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
SPTBN1	6711	broad.mit.edu	37	2	54880916	54880916	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:54880916C>T	ENST00000333896.5	+	26	6094	c.5709C>T	c.(5707-5709)ttC>ttT	p.F1903F	SPTBN1_ENST00000356805.4_Silent_p.F1916F	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1916	Interaction with ANK2.				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)			AGTTCCGCTTCTTCAGCATGG	0.597000													24	13					0	0	0.116897	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185606792	185606792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:185606792C>T	ENST00000314970.6	+	11	1682	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PRIMPOL_ENST00000515774.1_Missense_Mutation_p.R288W|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.R417W|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.R416W	NM_152683.2	NP_689896			primase and polymerase (DNA-directed)	417																	TTGTAAATATCGGTGGTGTGA	0.279000													44	37					0	0	0.139131	0	0
FAM13A	10144	broad.mit.edu	37	4	89671584	89671584	+	Missense_Mutation	SNP	G	G	C	rs141057688		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:89671584G>C	ENST00000264344.5	-	15	2138	c.1931C>G	c.(1930-1932)tCt>tGt	p.S644C	FAM13A_ENST00000508369.1_Missense_Mutation_p.S318C|FAM13A_ENST00000395002.2_Missense_Mutation_p.S318C|FAM13A_ENST00000503556.1_Missense_Mutation_p.S304C|FAM13A_ENST00000513837.1_Missense_Mutation_p.S290C|FAM13A_ENST00000511976.1_Missense_Mutation_p.S230C	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	644					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTCATGAAAGAATGGGAGTT	0.458000													34	58					0	0	0.225048	0	0
LRP1B	53353	broad.mit.edu	37	2	141128300	141128300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:141128300C>T	ENST00000389484.3	-	71	11958	c.10987G>A	c.(10987-10989)Gat>Aat	p.D3663N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3663	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTCTTCATCACTGCCATCC	0.398000										TSP Lung(27;0.18)			118	102					0	0	0.139131	0	0
UTP14C	9724	broad.mit.edu	37	13	52603133	52603133	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:52603133G>C	ENST00000521776.2	+	2	926	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	65					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGAGAGGTCTGAGGCTAGTCT	0.468000													74	164					0	0	0.139131	0	0
MAST3	23031	broad.mit.edu	37	19	18255941	18255941	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:18255941G>T	ENST00000262811.6	+	23	2854	c.2854G>T	c.(2854-2856)Gtt>Ttt	p.V952F	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		PDZ.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCCCCATCGTTATCCACAG	0.652000													74	105					2.76863e-45	3.03319e-45	0.139131	1	0
ANKRD34A	284615	broad.mit.edu	37	1	145473612	145473612	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:145473612C>T	ENST00000323397.4	+	4	1577	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	95										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGTGGCCTCGCTGCTCCTT	0.721000													29	16					0	0	0.144211	0	0
LMTK2	22853	broad.mit.edu	37	7	97822019	97822019	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:97822019G>C	ENST00000297293.5	+	11	2535	c.2242G>C	c.(2242-2244)Gaa>Caa	p.E748Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	748					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)					TCTTCAGACAGAACTTAAGAA	0.343000													17	12					0	0	0.175082	0	0
SPTLC2	9517	broad.mit.edu	37	14	77984460	77984460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:77984460C>G	ENST00000216484.2	-	11	1683	c.1490G>C	c.(1489-1491)gGa>gCa	p.G497A		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	497						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGCAGGAAATCCAACCACAAC	0.483000													25	41					0	0	0.099896	0	0
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	by1000genomes	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418000													6	130					0	0	0.217242	0	0
ITGA6	3655	broad.mit.edu	37	2	173352763	173352763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:173352763C>T	ENST00000375221.2	+	19	2719	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L	ITGA6_ENST00000343713.4_Missense_Mutation_p.S795L|ITGA6_ENST00000409080.1_Missense_Mutation_p.S800L|ITGA6_ENST00000409532.1_Missense_Mutation_p.S681L|ITGA6_ENST00000264107.7_Missense_Mutation_p.S800L|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.S839L			P23229	ITA6_HUMAN	integrin, alpha 6	839					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTATCGGTCTCGGGGTAAGTG	0.333000													33	99					0	0	0.246493	0	0
SGTB	54557	broad.mit.edu	37	5	64967757	64967757	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:64967757G>C	ENST00000381007.4	-	10	1023	c.788C>G	c.(787-789)tCa>tGa	p.S263*		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	263							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GATGAGGCTTGACAGGTCAGT	0.423000													16	19					0	0	0.189662	0	0
TTC29	83894	broad.mit.edu	37	4	147754965	147754965	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:147754965G>A	ENST00000513335.1	-	10	1247	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L	TTC29_ENST00000398886.4_Silent_p.L350L|TTC29_ENST00000325106.4_Silent_p.L324L			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	324							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TACCTCTGCAGGACCTTGGCT	0.448000													29	32					0	0	0.225048	0	0
STAU1	6780	broad.mit.edu	37	20	47736621	47736621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:47736621C>G	ENST00000371828.3	-	9	1273	c.786G>C	c.(784-786)aaG>aaC	p.K262N	STAU1_ENST00000360426.4_Missense_Mutation_p.K256N|STAU1_ENST00000371856.2_Missense_Mutation_p.K337N|STAU1_ENST00000340954.7_Missense_Mutation_p.K256N|STAU1_ENST00000347458.5_Missense_Mutation_p.K256N|STAU1_ENST00000371802.1_Missense_Mutation_p.K262N|STAU1_ENST00000371792.1_Missense_Mutation_p.K254N	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	337						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGCCACCTTCTTGTTGGTGC	0.522000													41	19					0	0	0.139131	0	0
SYNJ2	8871	broad.mit.edu	37	6	158449892	158449892	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:158449892C>T	ENST00000355585.4	+	3	394	c.319C>T	c.(319-321)Ctt>Ttt	p.L107F	SYNJ2_ENST00000449859.2_Missense_Mutation_p.L56F|SYNJ2_ENST00000367122.2_Missense_Mutation_p.L107F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L107F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	107							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTTTACCCTCTTCAGGAAGA	0.502000													23	16					0	0	0.125774	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36955630	36955630	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:36955630G>C	ENST00000269554.3	-	1	528	c.48C>G	c.(46-48)ctC>ctG	p.L16L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	16					cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGCTGGCGCTGAGCGGCGCCA	0.682000													14	20					0	0	0.146539	0	0
DNAH10	196385	broad.mit.edu	37	12	124415937	124415937	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:124415937C>G	ENST00000409039.3	+	73	12505	c.12480C>G	c.(12478-12480)ctC>ctG	p.L4160L	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4160					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTTTGGTCTCCACCCCAACG	0.577000													29	49					0	0	0.214465	0	0
FGFR3	2261	broad.mit.edu	37	4	1803377	1803377	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803377G>A	ENST00000340107.4	+	6	902	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	FGFR3_ENST00000440486.2_Missense_Mutation_p.E216K|FGFR3_ENST00000260795.2_Missense_Mutation_p.E216K|FGFR3_ENST00000412135.2_Missense_Mutation_p.E216K|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.E216K|FGFR3_ENST00000352904.1_Missense_Mutation_p.E216K	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	216	Ig-like C2-type 2.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTGGTCATGGAAAGCGTGGT	0.677000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				16	288					0	0	0.249174	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899848	45899848	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45899848G>A	ENST00000418234.2	-	4	745	c.667C>T	c.(667-669)Cta>Tta	p.L223L	PPP1R13L_ENST00000360957.5_Silent_p.L223L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	223	Pro-rich.			L -> I (in Ref. 3; AAW51146).	apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGGAGCCTAGCAGGGAGCTC	0.756000													13	9					0	0	0.119110	0	0
HRNR	388697	broad.mit.edu	37	1	152187697	152187697	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:152187697G>A	ENST00000368801.2	-	3	6483	c.6408C>T	c.(6406-6408)caC>caT	p.H2136H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2136					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTAGAGCCGTGTTGTCCGT	0.557000													106	1159					0	0	0.139131	0	0
WDR20	91833	broad.mit.edu	37	14	102606455	102606455	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:102606455C>G	ENST00000322340.5	+	1	244	c.195C>G	c.(193-195)ctC>ctG	p.L65L	WDR20_ENST00000556511.2_Silent_p.L65L|WDR20_ENST00000558567.1_Silent_p.L65L|WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000454394.2_Silent_p.L65L|WDR20_ENST00000335263.5_Silent_p.L65L|WDR20_ENST00000342702.3_Silent_p.L65L|WDR20_ENST00000424963.2_5'UTR|WDR20_ENST00000556807.1_Silent_p.L65L|WDR20_ENST00000299135.6_Silent_p.L65L|WDR20_ENST00000499851.2_5'UTR	NM_001242415.1	NP_001229344.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	65								p.L65L(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GCGACCGCCTCTGCTTCAATG	0.637000													25	25					0	0	0.125774	0	0
NANS	54187	broad.mit.edu	37	9	100845193	100845193	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:100845193C>T	ENST00000210444.5	+	6	1006	c.936C>T	c.(934-936)ctC>ctT	p.L312L	TRIM14_ENST00000478530.1_Intron|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	312	AFP-like.				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TGGACATGCTCACCGTGAAGG	0.493000													32	5					0	0	0.203993	0	0
EMC1	23065	broad.mit.edu	37	1	19557916	19557916	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:19557916C>G	ENST00000477853.1	-	16	1825	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	EMC1_ENST00000375208.3_Splice_Site_p.E573Q|EMC1_ENST00000375199.3_Splice_Site_p.E594Q|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		ATTCCCGACTCCTAAAATGAG	0.507000													5	13					0	0	0.217242	0	0
C10orf71	118461	broad.mit.edu	37	10	50532111	50532111	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:50532111G>A	ENST00000374144.3	+	3	1809	c.1521G>A	c.(1519-1521)cgG>cgA	p.R507R	C10orf71_ENST00000323868.4_Silent_p.R507R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	507										endometrium(1)	1						AGGACGTGCGGAAGCGTGTTA	0.488000													7	17					0	0	0.080935	0	0
ITIH6	347365	broad.mit.edu	37	X	54783589	54783589	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:54783589G>A	ENST00000218436.6	-	8	2947	c.2918C>T	c.(2917-2919)tCc>tTc	p.S973F		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	973	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGTAGGCCTGGAGCTGTTGAG	0.572000													24	0					0	0	0.108266	0	0
TRPM5	29850	broad.mit.edu	37	11	2436597	2436597	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:2436597C>T	ENST00000452833.1	-	9	1247	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	TRPM5_ENST00000155858.6_Silent_p.T411T|TRPM5_ENST00000533060.1_Silent_p.T411T|TRPM5_ENST00000528453.1_Silent_p.T411T			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	411						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGCCCATACGTCAGGAAGT	0.652000													5	9					0	0	0.184627	0	0
ATP2B1	490	broad.mit.edu	37	12	89997570	89997570	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:89997570G>C	ENST00000428670.3	-	17	3223	c.2767C>G	c.(2767-2769)Ctc>Gtc	p.L923V	ATP2B1_ENST00000393164.2_Missense_Mutation_p.L666V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.L923V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.L923V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.L923V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	923					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CGTGAGATGAGAGGCTTATTT	0.418000													48	67					0	0	0.139131	0	0
WDR13	64743	broad.mit.edu	37	X	48457331	48457331	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:48457331C>T	ENST00000218056.5	+	2	773	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	WDR13_ENST00000376729.5_Missense_Mutation_p.L90F|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	90						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCGCACTACTCTTGACCGCAT	0.617000													31	4					0	0	0.193644	0	0
TRIP12	9320	broad.mit.edu	37	2	230661454	230661454	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:230661454G>A	ENST00000283943.5	-	24	3622	c.3444C>T	c.(3442-3444)gtC>gtT	p.V1148V	TRIP12_ENST00000389044.4_Silent_p.V1196V|TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389045.3_Silent_p.V878V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1148					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGACTCTGAGACTATGCTAC	0.373000													19	43					0	0	0.091800	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149020	142149020	+	RNA	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:142149020G>A	ENST00000390372.3	-	0	257																											CTGGCGAGCTGAGAATCGATC	0.532000													58	56					0	0	0.139131	0	0
MAGI2	9863	broad.mit.edu	37	7	77649030	77649030	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:77649030C>T	ENST00000354212.4	-	22	4223	c.3970G>A	c.(3970-3972)Gcg>Acg	p.A1324T	MAGI2_ENST00000419488.1_Missense_Mutation_p.A1310T|MAGI2_ENST00000522391.1_3'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1324						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCGGCCGCGCGGCCCTCTGC	0.761000													4	4					0	0	0.150653	0	0
ZNF876P	642280	broad.mit.edu	37	4	206531	206531	+	RNA	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:206531C>G	ENST00000356347.3	+	0	133					NR_027481.1																						TTGGATGATTCGTAGCTAAGA	0.632000													3	173					0	0	0.115264	0	0
SPTSSB	165679	broad.mit.edu	37	3	161064103	161064103	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:161064103C>G	ENST00000359175.4	-	3	1579	c.9G>C	c.(7-9)ttG>ttC	p.L3F	SPTSSB_ENST00000497137.1_Missense_Mutation_p.L3F	NM_001040100.1	NP_001035189.1	Q8NFR3	SSPTB_HUMAN	serine palmitoyltransferase, small subunit B	3					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										TCACACGCCTCAAATCCATGG	0.403000													24	33					0	0	0.134883	0	0
NETO1	81832	broad.mit.edu	37	18	70417577	70417577	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:70417577G>A	ENST00000327305.6	-	9	1918	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	NETO1_ENST00000299430.2_Missense_Mutation_p.R420W|NETO1_ENST00000583169.1_Missense_Mutation_p.R421W	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	421					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.R421R(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATGACCTCCGCAGTTTATGG	0.458000													16	9					0	0	0.204396	0	0
IGSF3	3321	broad.mit.edu	37	1	117150798	117150798	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:117150798G>A	ENST00000369486.3	-	5	1753	c.988C>T	c.(988-990)Cct>Tct	p.P330S	IGSF3_ENST00000369483.1_Missense_Mutation_p.P330S|IGSF3_ENST00000318837.6_Missense_Mutation_p.P330S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	330	Ig-like C2-type 3.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACAGCGTTAGGACCCATGGTG	0.562000													11	13					0	0	0.119110	0	0
TEAD2	8463	broad.mit.edu	37	19	49852054	49852054	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:49852054G>C	ENST00000377214.4	-	7	1012	c.650C>G	c.(649-651)tCg>tGg	p.S217W	TEAD2_ENST00000601519.1_Missense_Mutation_p.S217W|TEAD2_ENST00000311227.2_Missense_Mutation_p.S214W|TEAD2_ENST00000539846.1_Missense_Mutation_p.S86W|TEAD2_ENST00000593945.1_Missense_Mutation_p.S218W|TEAD2_ENST00000598810.1_Missense_Mutation_p.S218W|TEAD2_ENST00000598397.1_5'UTR			Q15562	TEAD2_HUMAN	TEA domain family member 2	214	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGCTGGGGGCGATGGGGTAGG	0.572000													11	7					0	0	0.080935	0	0
NELFA	7469	broad.mit.edu	37	4	1985607	1985607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1985607G>A	ENST00000382882.3	-	9	2420	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	NELFA_ENST00000542778.1_Nonsense_Mutation_p.Q289*|NELFA_ENST00000411638.2_Nonsense_Mutation_p.Q424*					negative elongation factor complex member A																		GGCTGCTGCTGAGCAGGGGCC	0.672000													58	39					0	0	0.139131	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143885433	143885433	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:143885433G>A	ENST00000378115.2	-	2	173	c.44C>T	c.(43-45)tCt>tTt	p.S15F	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.S15F	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	15										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTCTATGGCAGAGATGGGAGG	0.512000													24	62					0	0	0.116897	0	0
TOP1MT	116447	broad.mit.edu	37	8	144411592	144411592	+	Silent	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:144411592A>G	ENST00000329245.4	-	3	322	c.288T>C	c.(286-288)taT>taC	p.Y96Y	TOP1MT_ENST00000519148.1_5'UTR|TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000523676.1_5'UTR	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	96					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ACATCCTCCCATAAAAAGTGG	0.552000													30	105					0	0	0.203993	0	0
VWA3B	200403	broad.mit.edu	37	2	98810866	98810866	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:98810866G>C	ENST00000477737.1	+	12	1852	c.1648G>C	c.(1648-1650)Gat>Cat	p.D550H	VWA3B_ENST00000451075.2_Missense_Mutation_p.D400H|VWA3B_ENST00000435344.1_Missense_Mutation_p.D550H	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	550	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGAAGTTTGATGGTCAAGC	0.373000													78	57					0	0	0.139131	0	0
DENND5B	160518	broad.mit.edu	37	12	31540565	31540565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540565C>T	ENST00000389082.5	-	21	4061	c.3797G>A	c.(3796-3798)gGa>gAa	p.G1266E	DENND5B_ENST00000536562.1_Missense_Mutation_p.G1301E|DENND5B_ENST00000306833.6_Missense_Mutation_p.G1301E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1266	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GATGAGTGATCCTTCTAGGAC	0.498000													20	33					0	0	0.116897	0	0
POLN	353497	broad.mit.edu	37	4	2129877	2129877	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2129877C>G	ENST00000511885.2	-	19	2298	c.1945G>C	c.(1945-1947)Gaa>Caa	p.E649Q	POLN_ENST00000382865.1_Missense_Mutation_p.E649Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	649					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCATCTCTTTCAGATTCCTGG	0.373000								DNA polymerases (catalytic subunits)					40	25					0	0	0.139131	0	0
TRMT6	51605	broad.mit.edu	37	20	5927104	5927104	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:5927104C>T	ENST00000203001.2	-	2	334	c.204G>A	c.(202-204)gtG>gtA	p.V68V	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	68					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CTCCACTGGTCACTTCAAATG	0.418000													31	55					0	0	0.193644	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319000	21319000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:21319000G>A	ENST00000583088.1	+	3	1241	c.346G>A	c.(346-348)Gag>Aag	p.E116K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E116K	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGAGCCGGCTGAGGGCCGGGG	0.647000										Prostate(3;0.18)			13	46					0	0	0.160694	0	0
C11orf83	790955	broad.mit.edu	37	11	62439585	62439585	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62439585G>A	ENST00000531323.1	+	3	824	c.281G>A	c.(280-282)tGa>tAa	p.*94*	C11orf83_ENST00000377953.3_Silent_p.*94*			Q6UW78	CK083_HUMAN	chromosome 11 open reading frame 83	0						extracellular region				cervix(1)|lung(1)|prostate(1)	3						AGGTCACCGTGAGACCGGACT	0.687000													2	1					0	0	0.115264	0	0
ITGB4	3691	broad.mit.edu	37	17	73749862	73749862	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:73749862C>G	ENST00000200181.3	+	33	4312	c.4125C>G	c.(4123-4125)ttC>ttG	p.F1375L	ITGB4_ENST00000339591.3_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000450894.3_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1375					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGAAGTTCGAGCCCCTGC	0.761000													14	15					0	0	0.234183	0	0
PPIC	5480	broad.mit.edu	37	5	122364492	122364492	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:122364492G>A	ENST00000306442.4	-	3	418	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	101	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CTCCAGTGGTGATGTCACCTC	0.393000													13	28					0	0	0.132662	0	0
PCNXL2	80003	broad.mit.edu	37	1	233136233	233136233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:233136233C>T	ENST00000258229.9	-	30	5380	c.5146G>A	c.(5146-5148)Gag>Aag	p.E1716K	PCNXL2_ENST00000344698.2_Missense_Mutation_p.E368K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGATGGCCTCGTAGAGGACT	0.612000													7	7					0	0	0.038147	0	0
WDR44	54521	broad.mit.edu	37	X	117566847	117566847	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:117566847C>T	ENST00000254029.3	+	13	2236	c.1841C>T	c.(1840-1842)tCa>tTa	p.S614L	WDR44_ENST00000371822.5_Missense_Mutation_p.S589L|WDR44_ENST00000371825.3_Missense_Mutation_p.S614L	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	614						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTGATCTTTCATGGTCTAAA	0.393000													47	4					0	0	0.139131	0	0
HDLBP	3069	broad.mit.edu	37	2	242187661	242187661	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:242187661C>G	ENST00000391975.1	-	13	1842	c.1615G>C	c.(1615-1617)Gag>Cag	p.E539Q	HDLBP_ENST00000427183.2_Missense_Mutation_p.E506Q|HDLBP_ENST00000391976.2_Missense_Mutation_p.E539Q|HDLBP_ENST00000310931.4_Missense_Mutation_p.E539Q	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	539	KH 6.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AACTTTACCTCTGGGAATTTG	0.403000													29	68					0	0	0.153744	0	0
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428000													5	154					0.0477658	0.0484537	0.047766	1	0
NMRK2	27231	broad.mit.edu	37	19	3938612	3938612	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3938612C>T	ENST00000168977.2	+	5	468	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	NMRK2_ENST00000593949.1_Silent_p.L65L|NMRK2_ENST00000599576.1_Silent_p.L51L	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		GCTGGAGTCTCTGGACATGGA	0.682000													15	22					0	0	0.175082	0	0
GLT8D2	83468	broad.mit.edu	37	12	104388223	104388223	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:104388223G>A	ENST00000360814.4	-	9	1062	c.657C>T	c.(655-657)atC>atT	p.I219I	GLT8D2_ENST00000546436.1_Silent_p.I219I|GLT8D2_ENST00000548660.1_Silent_p.I219I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	219						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGCTGGGGCTGATGCCAAGGT	0.483000													28	27					0	0	0.173368	0	0
CCKBR	887	broad.mit.edu	37	11	6281307	6281307	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:6281307G>A	ENST00000525462.1	+	1	152	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	CCKBR_ENST00000531712.1_Missense_Mutation_p.R50Q|CCKBR_ENST00000334619.2_Missense_Mutation_p.R50Q|CCKBR_ENST00000532715.1_Missense_Mutation_p.R50Q|CCKBR_ENST00000525014.1_Missense_Mutation_p.R50Q			P32239	GASR_HUMAN	cholecystokinin B receptor	50					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCCGGGACACGAGGTGGGTGC	0.647000													21	29					0	0	0.134883	0	0
HNRNPM	4670	broad.mit.edu	37	19	8509966	8509966	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:8509966G>T	ENST00000348943.3	+	1	316	c.84G>T	c.(82-84)ccG>ccT	p.P28P	HNRNPM_ENST00000325495.4_Silent_p.P28P	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	28				APGVPSGNGAP -> GPACERQRGS (in Ref. 1; AAA36192).	alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CCGGCGTGCCGAGCGGCAACG	0.711000													4	1					0.014758	0.0150324	0.184627	1	0
NOC3L	64318	broad.mit.edu	37	10	96116974	96116974	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:96116974G>C	ENST00000371361.3	-	4	565	c.465C>G	c.(463-465)atC>atG	p.I155M	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.I155M	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	155						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTTTATCTTTGATAGGAAGTA	0.368000													41	33					0	0	0.139131	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129680905	129680905	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:129680905G>C	ENST00000358303.4	-	3	379	c.295C>G	c.(295-297)Cca>Gca	p.P99A	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.P78A|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.P99A|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.P99A	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	99					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CAGACGAGTGGAGACAGCTCA	0.413000													110	191					0	0	0.139131	0	0
TMEM63C	57156	broad.mit.edu	37	14	77709324	77709324	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:77709324C>G	ENST00000298351.4	+	15	1410	c.1266C>G	c.(1264-1266)ttC>ttG	p.F422L		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	422						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCCTCTTCTTCTTTCTCACCA	0.552000													19	31					0	0	0.219247	0	0
ZNF600	162966	broad.mit.edu	37	19	53269283	53269283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:53269283G>A	ENST00000338230.3	-	3	1993	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTCCAGTATGAAGTCTACGA	0.438000													113	117					0	0	0.139131	0	0
SIN3A	25942	broad.mit.edu	37	15	75668200	75668200	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75668200T>C	ENST00000394947.3	-	20	3711	c.3397A>G	c.(3397-3399)Atc>Gtc	p.I1133V	SIN3A_ENST00000360439.4_Missense_Mutation_p.I1133V|SIN3A_ENST00000394949.4_Missense_Mutation_p.I1133V	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1133					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CACTTCCGGATCCGCCGTAGA	0.493000													19	95					0	0	0.139131	0	0
ECM2	1842	broad.mit.edu	37	9	95277062	95277062	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:95277062G>C	ENST00000344604.5	-	4	1054	c.905C>G	c.(904-906)tCt>tGt	p.S302C	ECM2_ENST00000444490.2_Missense_Mutation_p.S280C|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	302					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CGGGGATCGAGAGGGCATTCG	0.612000													31	6					0	0	0.183431	0	0
C2ORF15	150590	broad.mit.edu	37	2	99767109	99767109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:99767109G>A	ENST00000302513.2	+	4	826	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	TSGA10_ENST00000393483.3_Intron|C2ORF15_ENST00000409684.1_Missense_Mutation_p.E64K	NM_144706.2	NP_653307.1				64																	ACGAGGGACTGAAAAAAGCAG	0.363000													12	14					0	0	0.132662	0	0
HRH1	3269	broad.mit.edu	37	3	11300932	11300932	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:11300932C>T	ENST00000397056.1	+	3	400	c.209C>T	c.(208-210)tCg>tTg	p.S70L	HRH1_ENST00000431010.2_Missense_Mutation_p.S70L|HRH1_ENST00000438284.2_Missense_Mutation_p.S70L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	70					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GTCAGCCTCTCGGTGGCGGAC	0.577000													43	45					0	0	0.139131	0	0
ACAN	176	broad.mit.edu	37	15	89398558	89398558	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:89398558G>A	ENST00000439576.2	+	12	3116	c.2742G>A	c.(2740-2742)gtG>gtA	p.V914V	ACAN_ENST00000559004.1_Silent_p.V914V|ACAN_ENST00000561243.1_Silent_p.V914V|ACAN_ENST00000352105.7_Silent_p.V914V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	914					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCTGCCTGTGGAAAGTGGAC	0.587000													12	16					0	0	0.132662	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020560	46020560	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:46020560G>A	ENST00000380102.2	+	1	64	c.39G>A	c.(37-39)ctG>ctA	p.L13L	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	13						keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCAGCGACCTGAGCTACGGCA	0.622000													24	31					0	0	0.163468	0	0
ITGA11	22801	broad.mit.edu	37	15	68649618	68649618	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:68649618C>G	ENST00000423218.2	-	7	715	c.620G>C	c.(619-621)gGc>gCc	p.G207A	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Missense_Mutation_p.G207A			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	207	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CACATCTTCGCCATACTGCAC	0.507000													43	59					0	0	0.139131	0	0
SLC4A4	8671	broad.mit.edu	37	4	72222830	72222830	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:72222830C>A	ENST00000340595.3	+	3	720	c.524C>A	c.(523-525)tCc>tAc	p.S175Y	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S219Y|SLC4A4_ENST00000512686.1_Missense_Mutation_p.S175Y|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S219Y|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S219Y	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	219						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACCAAGAAATCCAACCTTCGG	0.483000													65	73					8.87156e-34	9.69773e-34	0.139131	1	0
PDGFRB	5159	broad.mit.edu	37	5	149498309	149498309	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:149498309C>A	ENST00000261799.4	-	21	3374		c.e21+1			NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide						aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCAACATACCTTTTTGTAA	0.557000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								49	33					8.72158e-25	9.44998e-25	0.139131	1	0
INTS2	57508	broad.mit.edu	37	17	59981823	59981823	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:59981823G>A	ENST00000444766.3	-	9	1404	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V	INTS2_ENST00000251334.6_Silent_p.V435V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	443					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTAGGTACCTGACAAGTGTAG	0.388000													3	5					0	0	0.184627	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19427759	19427759	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:19427759C>G	ENST00000538714.1	+	10	1141	c.1137C>G	c.(1135-1137)gtC>gtG	p.V379V	PLEKHA5_ENST00000359180.3_Silent_p.V379V|PLEKHA5_ENST00000543806.1_Silent_p.V271V|PLEKHA5_ENST00000299275.6_Silent_p.V379V|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000424268.1_Silent_p.V271V|PLEKHA5_ENST00000355397.3_Silent_p.V379V|PLEKHA5_ENST00000317589.4_Silent_p.V379V|PLEKHA5_ENST00000539256.1_Silent_p.V137V|PLEKHA5_ENST00000429027.2_Silent_p.V385V|PLEKHA5_ENST00000309364.4_Silent_p.V379V	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	379							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACAAAATAGTCAATGTTAGCC	0.468000													29	60					0	0	0.144211	0	0
TAF4	6874	broad.mit.edu	37	20	60582637	60582637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:60582637G>A	ENST00000252996.4	-	6	1939	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa		TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTGAGGTGAAGAATTAAGTTC	0.458000													134	75					0	0	0.139131	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36233667	36233667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:36233667C>G	ENST00000412391.2	-	8	629	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	U2AF1L4_ENST00000292879.5_Missense_Mutation_p.E147D|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.E167Q|AD000671.6_ENST00000589807.1_Intron			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	206					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGTTCCTCTCTCGGGGATGG	0.602000													46	74					0	0	0.139131	0	0
YTHDF3	253943	broad.mit.edu	37	8	64099964	64099964	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:64099964C>T	ENST00000539294.1	+	4	1708	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_Silent_p.F275F	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	465	YTH.											Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTTACTCTTCAGTGTGAATG	0.448000													22	27					0	0	0.099896	0	0
FAT2	2196	broad.mit.edu	37	5	150935954	150935954	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:150935954G>C	ENST00000261800.5	-	3	3596	c.3584C>G	c.(3583-3585)tCt>tGt	p.S1195C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1195	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGCTGTAGATAGGAGACC	0.458000													23	32					0	0	0.116897	0	0
LRRC45	201255	broad.mit.edu	37	17	79988565	79988565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:79988565G>A	ENST00000306688.3	+	17	2239	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	633						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGGCTCCGGGAGGCGGAGAT	0.697000													7	3					0	0	0.038147	0	0
MECOM	2122	broad.mit.edu	37	3	168830619	168830619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:168830619C>G	ENST00000464456.1	-	8	3169	c.1969G>C	c.(1969-1971)Gag>Cag	p.E657Q	MECOM_ENST00000494292.1_Missense_Mutation_p.E845Q|MECOM_ENST00000460814.1_Missense_Mutation_p.E657Q|MECOM_ENST00000392736.3_Missense_Mutation_p.E657Q|MECOM_ENST00000472280.1_Missense_Mutation_p.E658Q|MECOM_ENST00000468789.1_Missense_Mutation_p.E657Q|MECOM_ENST00000264674.3_Missense_Mutation_p.E722Q|MECOM_ENST00000433243.2_Missense_Mutation_p.E658Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAGTATTTCTCTTTTAAAGCT	0.353000													28	43					0	0	0.214465	0	0
DLGAP2	9228	broad.mit.edu	37	8	1645432	1645432	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:1645432C>T	ENST00000421627.2	+	11	2810	c.2676C>T	c.(2674-2676)aaC>aaT	p.N892N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	971					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCGGCTCAACGACTGGAAGA	0.612000													9	114					0	0	0.093190	0	0
SEPT5	5413	broad.mit.edu	37	22	19709361	19709361	+	Silent	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:19709361T>C	ENST00000438754.2	+	9	1127	c.847T>C	c.(847-849)Ttg>Ctg	p.L283L	SEPT5_ENST00000383045.3_Silent_p.H286H|SEPT5_ENST00000406395.1_Silent_p.L274L|SEPT5_ENST00000455784.2_Silent_p.H277H	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	0					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					ACCAGGCGCATTGCGACTTCG	0.632000													7	62					0	0	0.248553	0	0
ST14	6768	broad.mit.edu	37	11	130058506	130058506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:130058506C>T	ENST00000278742.5	+	3	741	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	108					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TACGAGAACTCCAACTCCACT	0.562000													23	50					0	0	0.134883	0	0
KMT2C	58508	broad.mit.edu	37	7	151891214	151891214	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:151891214C>G	ENST00000355193.2	-	31	4759		c.e31-1		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		CCGCCAAGCTCTAGGAGATAA	0.418000													30	32					0	0	0.163468	0	0
VWA7	80737	broad.mit.edu	37	6	31735166	31735166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:31735166C>T	ENST00000375686.3	-	12	1999	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	VWA7_ENST00000375688.4_Missense_Mutation_p.E588K|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.E588K	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	588						extracellular region											GGGGTGTCCTCAGCTGTGACC	0.592000													36	53					0	0	0.139131	0	0
DIRC2	84925	broad.mit.edu	37	3	122552196	122552196	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:122552196A>T	ENST00000261038.5	+	4	1134	c.736A>T	c.(736-738)Aca>Tca	p.T246S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	246					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ATTTTCTGCAACACTAGCTTA	0.393000													21	152					0	0	0.091800	0	0
OBP2B	29989	broad.mit.edu	37	9	136081794	136081794	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:136081794G>A	ENST00000372034.3	-	5	439	c.398C>T	c.(397-399)tCt>tTt	p.S133F	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		GTTGGTATCAGAATTCCTACC	0.612000													23	5					0	0	0.083992	0	0
LINC00610	399879	broad.mit.edu	37	11	36293222	36293222	+	RNA	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:36293222G>A	ENST00000355500.1	-	0	349																											CCGTCCTGATGAATACATAAG	0.483000													6	12					0	0	0.217242	0	0
IDI2	91734	broad.mit.edu	37	10	1070566	1070566	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:1070566G>A	ENST00000277517.1	-	2	162	c.98C>T	c.(97-99)gCc>gTc	p.A33V	IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	33					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CTTGGTGTCGGCACCAATAAC	0.478000													3	43					0	0	0.115264	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38345517	38345517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:38345517C>T	ENST00000436615.3	+	6	876	c.386C>T	c.(385-387)tCa>tTa	p.S129L	RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.S129L|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.S184L|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.S178L	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	335					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGCCGCCTTTCAGCATCTGTG	0.537000													9	246					0	0	0.058154	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593753	135593753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:135593753G>C	ENST00000535601.1	+	10	2271	c.1849G>C	c.(1849-1851)Gag>Cag	p.E617Q	HTATSF1_ENST00000218364.4_Missense_Mutation_p.E617Q	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	617	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GGAAGGCTCTGAGAGAGAGTT	0.363000													33	5					0	0	0.225048	0	0
ACTR8	93973	broad.mit.edu	37	3	53908332	53908332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:53908332C>T	ENST00000335754.3	-	8	1071	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	ACTR8_ENST00000231909.7_Intron|ACTR8_ENST00000482349.1_Missense_Mutation_p.R213Q	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	324					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GAACCCAGCTCGCTGCATTAG	0.398000													29	28					0	0	0.173368	0	0
PEX26	55670	broad.mit.edu	37	22	18561373	18561373	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:18561373G>C	ENST00000329627.7	+	2	436		c.e2+1		XXbac-B476C20.9_ENST00000607927.1_RNA|PEX26_ENST00000399744.3_Splice_Site|PEX26_ENST00000428061.2_Splice_Site	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26						protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCGCGGGCACGTACGTGCTGG	0.647000													5	7					0	0	0.217242	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148999931	148999931	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:148999931C>T	ENST00000333677.6	+	8	1072	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	303	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCCTCTACTTCAGGCCGCACG	0.512000													21	94					0	0	0.153744	0	0
ABCA5	23461	broad.mit.edu	37	17	67255906	67255906	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:67255906G>C	ENST00000392676.3	-	28	3736	c.3672C>G	c.(3670-3672)ctC>ctG	p.L1224L	ABCA5_ENST00000588877.1_Silent_p.L1224L|ABCA5_ENST00000392677.2_Silent_p.L1225L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1224					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AGTATTGTAAGAGGAAAATCC	0.308000													21	39					0	0	0.116897	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597706	47597706	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:47597706C>T	ENST00000253048.5	-	3	358	c.321G>A	c.(319-321)cgG>cgA	p.R107R	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	107							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCTCTTTCTTCCGTTTCCGCT	0.537000													124	212					0	0	0.139131	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114192016	114192016	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:114192016C>G	ENST00000369405.3	-	10	1543	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.D370H	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	374						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		AAGGAATCATCAAGAATTTTG	0.274000													5	11					0	0	0.217242	0	0
ADCY3	109	broad.mit.edu	37	2	25044461	25044461	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:25044461C>T	ENST00000260600.5	-	19	3903	c.3052G>A	c.(3052-3054)Gac>Aac	p.D1018N	CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.D605N|CENPO_ENST00000380834.2_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1018					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGCGAAGTCGGCCAGGTCA	0.612000													60	192					0	0	0.139131	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66766331	66766331	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:66766331G>C	ENST00000258198.2	-	7	1046	c.840C>G	c.(838-840)ctC>ctG	p.L280L	DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000440564.2_Silent_p.L241L|DYNC1LI2_ENST00000443351.2_Silent_p.L203L	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	280					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		ACAACAAGTCGAGGTTTTTCT	0.373000													10	23					0	0	0.069234	0	0
FOXF1	2294	broad.mit.edu	37	16	86544388	86544388	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:86544388G>A	ENST00000262426.4	+	1	256	c.213G>A	c.(211-213)ctG>ctA	p.L71L		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	71					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GCCTGACGCTGAGCGAGATCT	0.627000													37	27					0	0	0.131918	0	0
ARHGEF38	54848	broad.mit.edu	37	4	106510538	106510538	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:106510538C>G	ENST00000420470.2	+	2	474	c.330C>G	c.(328-330)ctC>ctG	p.L110L	ARHGEF38_ENST00000265154.2_Silent_p.L110L	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	110	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						AGGATTATCTCAATGATCTAG	0.378000													29	43					0	0	0.225048	0	0
KIAA1109	84162	broad.mit.edu	37	4	123159417	123159417	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:123159417G>A	ENST00000264501.4	+	28	4118	c.3745G>A	c.(3745-3747)Gaa>Aaa	p.E1249K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E1249K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E1249K|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1249					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTGGCTGGTGAAAAGGAAAG	0.433000													34	33					0	0	0.225048	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012277	160012277	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:160012277C>G	ENST00000368089.3	-	2	272	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	16						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCCGGCTTTCTGTCTGAGTG	0.532000													142	30					0	0	0.139131	0	0
MTMR14	64419	broad.mit.edu	37	3	9743604	9743604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:9743604G>C	ENST00000296003.4	+	19	2022	c.1900G>C	c.(1900-1902)Gag>Cag	p.E634Q	MTMR14_ENST00000353332.5_Missense_Mutation_p.E582Q|MTMR14_ENST00000420925.1_Missense_Mutation_p.E276Q|MTMR14_ENST00000351233.5_Missense_Mutation_p.E522Q	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	634						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GGGCCTGCTGGAGCAATTTGC	0.617000													49	76					0	0	0.139131	0	0
TRPS1	7227	broad.mit.edu	37	8	116616766	116616766	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:116616766G>A	ENST00000395715.3	-	4	2007	c.1430C>T	c.(1429-1431)tCa>tTa	p.S477L	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.S464L|TRPS1_ENST00000520276.1_Missense_Mutation_p.S468L|TRPS1_ENST00000220888.5_Missense_Mutation_p.S464L	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	464					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAGGCCGCCTGACTGCACTGC	0.433000									Langer-Giedion syndrome				20	34					0	0	0.249174	0	0
ST14	6768	broad.mit.edu	37	11	130066275	130066275	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:130066275C>T	ENST00000278742.5	+	10	1573	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	385	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCAAATTCTTCTACCTGCTGG	0.632000													6	7					0	0	0.058154	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499551	34499551	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:34499551C>G	ENST00000538621.1	+	9	1457	c.1212C>G	c.(1210-1212)ctC>ctG	p.L404L	PACSIN1_ENST00000374043.2_Silent_p.L362L|PACSIN1_ENST00000244458.2_Silent_p.L404L	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	404	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGACGAGCTCAGCTTTAAGG	0.652000													46	67					0	0	0.139131	0	0
CD101	9398	broad.mit.edu	37	1	117556174	117556174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:117556174G>A	ENST00000256652.4	+	4	1046	c.988G>A	c.(988-990)Gat>Aat	p.D330N	CD101_ENST00000369470.1_Missense_Mutation_p.D330N	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	330	Ig-like C2-type 3.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCTCACATTGATGCTGGTGG	0.493000													8	73					0	0	0.069234	0	0
YTHDF3	253943	broad.mit.edu	37	8	64100049	64100049	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:64100049C>G	ENST00000539294.1	+	4	1793	c.1477C>G	c.(1477-1479)Cag>Gag	p.Q493E	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_Missense_Mutation_p.Q304E	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	494	YTH.											Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTCTGGTCTCAGGATAAGTG	0.388000													31	27					0	0	0.246493	0	0
FBXW7	55294	broad.mit.edu	37	4	153303406	153303406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:153303406G>C	ENST00000296555.5	-	1	261	c.82C>G	c.(82-84)Caa>Gaa	p.Q28E	FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000281708.4_Intron	NM_001013415.1	NP_001013433.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	0					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCACAGTTTGATGTGGTAGA	0.388000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								29	39					0	0	0.183431	0	0
HES4	57801	broad.mit.edu	37	1	934921	934921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:934921G>A	ENST00000428771.2	-	2	553	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	HES4_ENST00000304952.6_Missense_Mutation_p.R93C|HES4_ENST00000484667.2_Missense_Mutation_p.R61C	NM_001142467.1|NM_021170.3	NP_001135939.1|NP_066993.1	Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	93	Orange.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTGCACGCGACGCAGGCTC	0.736000													3	10					0	0	0.115264	0	0
WSB2	55884	broad.mit.edu	37	12	118490215	118490215	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:118490215C>G	ENST00000315436.3	-	2	223	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	WSB2_ENST00000441406.2_Missense_Mutation_p.E45Q|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.E30Q|WSB2_ENST00000542304.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	28					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCAGGTTTCACAGCTGGAC	0.587000													78	106					0	0	0.139131	0	0
FBXO30	84085	broad.mit.edu	37	6	146127103	146127103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:146127103C>T	ENST00000237281.4	-	2	605	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	147							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GATACTTTATCAGTTGCTTTT	0.403000													53	36					0	0	0.139131	0	0
SRP72	6731	broad.mit.edu	37	4	57356772	57356772	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:57356772T>A	ENST00000342756.5	+	15	2184	c.1463T>A	c.(1462-1464)aTt>aAt	p.I488N	SRP72_ENST00000510663.1_Missense_Mutation_p.I427N	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	488					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GCACAGCTTATTTCTGCTTAC	0.333000													21	20					0	0	0.108266	0	0
PDIA3	2923	broad.mit.edu	37	15	44057680	44057680	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:44057680C>G	ENST00000300289.5	+	6	783	c.635C>G	c.(634-636)aCt>aGt	p.T212S	PDIA3_ENST00000538521.1_Missense_Mutation_p.T192S	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	212					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TCACATCTCACTAACAAGTTT	0.348000													33	46					0	0	0.225048	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61910306	61910306	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:61910306G>C	ENST00000370275.4	+	7	678	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E143Q|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E83Q|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E196Q|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E196Q|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E122Q	NM_001281482.1	NP_001268411.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	196					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TCAGAAGAAAGAAGATGACTT	0.597000													63	23					0	0	0.139131	0	0
HFM1	164045	broad.mit.edu	37	1	91778938	91778938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:91778938G>A	ENST00000370425.3	-	30	3457	c.3359C>T	c.(3358-3360)tCa>tTa	p.S1120L	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S799L|HFM1_ENST00000294696.5_Missense_Mutation_p.S352L	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1120							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.S1120L(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGATATGTCTGAATGTTTAGA	0.328000													4	74					0	0	0.217242	0	0
SYNGR3	9143	broad.mit.edu	37	16	2042986	2042986	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:2042986C>T	ENST00000248121.2	+	4	761	c.603C>T	c.(601-603)ggC>ggT	p.G201G	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	201					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						TGGGCAGCGGCGTGGAGGGCA	0.692000													13	26					0	0	0.204396	0	0
TMEM50A	23585	broad.mit.edu	37	1	25678151	25678151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:25678151G>T	ENST00000374358.4	+	4	794	c.241G>T	c.(241-243)Gat>Tat	p.D81Y	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	81						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		AGTCCGAGGTGATAGTTACAG	0.358000													44	46					1.20466e-24	1.30241e-24	0.139131	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62969059	62969059	+	RNA	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:62969059G>A	ENST00000430983.1	-	0	1290					NR_026903.1																						TAATATGGAAGAACATTTAAA	0.323000													3	9					0	0	0.115264	0	0
FNIP1	96459	broad.mit.edu	37	5	131046318	131046318	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:131046318G>C	ENST00000307954.8	-	6	552	c.524C>G	c.(523-525)tCt>tGt	p.S175C	FNIP1_ENST00000510461.1_Missense_Mutation_p.S220C|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.S220C					folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACCCTGCTCAGAGAATGCCCG	0.527000													14	12					0	0	0.175082	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238281	26238281	+	RNA	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:26238281C>T	ENST00000519902.1	-	0	1667																											GCCTGTTTTTCATCTTCATCT	0.413000													15	28					0	0	0.175082	0	0
KIRREL3	84623	broad.mit.edu	37	11	126294664	126294664	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:126294664G>T	ENST00000525144.2	-	17	2397	c.2148C>A	c.(2146-2148)ctC>ctA	p.L716L	KIRREL3_ENST00000416561.2_Silent_p.L183L|KIRREL3_ENST00000529097.2_Silent_p.L704L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	716	Ser-rich.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGCTGTCGCTGAGGGAGCCTC	0.632000													11	27					2.27111e-07	2.35717e-07	0.093190	1	0
FGFR3	2261	broad.mit.edu	37	4	1803435	1803435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803435G>A	ENST00000340107.4	+	6	960	c.704G>A	c.(703-705)gGc>gAc	p.G235D	FGFR3_ENST00000440486.2_Missense_Mutation_p.G235D|FGFR3_ENST00000260795.2_Missense_Mutation_p.G235D|FGFR3_ENST00000412135.2_Missense_Mutation_p.G235D|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.G235D|FGFR3_ENST00000352904.1_Missense_Mutation_p.G235D	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	235	Ig-like C2-type 2.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	AACAAGTTTGGCAGCATCCGG	0.697000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				9	270					0	0	0.080935	0	0
ZNF846	162993	broad.mit.edu	37	19	9868950	9868950	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9868950C>A	ENST00000397902.2	-	6	1216	c.803G>T	c.(802-804)gGa>gTa	p.G268V	ZNF846_ENST00000588267.1_Missense_Mutation_p.G139V|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.G139V	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TAATTTAAGTCCTGTGGATTG	0.388000													28	40					9.65021e-13	1.0144e-12	0.153744	1	0
CNPPD1	27013	broad.mit.edu	37	2	220041503	220041503	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220041503G>A	ENST00000409789.1	-	2	475	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CNPPD1_ENST00000360507.5_Silent_p.L16L			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	16					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						GGAAGCCGGCGAGGGAGAAGG	0.711000													4	3					0	0	0.248553	0	0
ITGAX	3687	broad.mit.edu	37	16	31383090	31383090	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:31383090C>T	ENST00000268296.4	+	17	2266	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	ITGAX_ENST00000562522.1_Silent_p.F715F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	715					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTGAAAACTTCAACCTGCTGC	0.647000													24	35					0	0	0.183431	0	0
HCAR1	27198	broad.mit.edu	37	12	123214482	123214482	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:123214482G>A	ENST00000432564.1	-	1	647	c.405C>T	c.(403-405)atC>atT	p.I135I	HCAR1_ENST00000436083.2_Silent_p.I135I|HCAR1_ENST00000356987.2_Silent_p.I135I	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	135					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GGGTGCAGACGATGCCAGCCG	0.592000													63	60					0	0	0.139131	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749555	8749555	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:8749555G>A	ENST00000276282.6	-	1	1600	c.1014C>T	c.(1012-1014)atC>atT	p.I338I		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	338										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCAGCTCCACGATGGAGTCCG	0.637000													63	79					0	0	0.139131	0	0
UBR5	51366	broad.mit.edu	37	8	103301750	103301750	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:103301750G>T	ENST00000520539.1	-	35	5250	c.4644C>A	c.(4642-4644)atC>atA	p.I1548I	UBR5_ENST00000521922.1_Silent_p.I1542I|UBR5_ENST00000220959.4_Silent_p.I1548I|UBR5_ENST00000519528.1_Intron	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1548					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTGACTGGCTGATGCGCCTCT	0.473000													14	157					9.7654e-05	0.000100299	0.189662	1	0
PREX1	57580	broad.mit.edu	37	20	47260976	47260976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:47260976G>C	ENST00000396220.1	-	27	3594	c.3572C>G	c.(3571-3573)tCc>tGc	p.S1191C	PREX1_ENST00000371941.3_Missense_Mutation_p.S1191C			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1191					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCAAGTAGGAGCTGTTACT	0.562000													30	24					0	0	0.246493	0	0
KIAA1109	84162	broad.mit.edu	37	4	123141550	123141550	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:123141550G>C	ENST00000264501.4	+	22	2911	c.2538G>C	c.(2536-2538)atG>atC	p.M846I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.M846I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M846I|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	846					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTTTGAAATGAAAAAAGGAT	0.393000													19	19					0	0	0.249174	0	0
TFAM	7019	broad.mit.edu	37	10	60148581	60148581	+	Splice_Site	SNP	T	T	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:60148581T>G	ENST00000487519.1	+	4	967		c.e4+2		TFAM_ENST00000373899.3_Splice_Site|TFAM_ENST00000373895.3_Splice_Site	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial						DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAAAAAAAAGTGAGTATCATT	0.269000													8	19					0	0	0.080935	0	0
GDF11	10220	broad.mit.edu	37	12	56137466	56137466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56137466C>G	ENST00000257868.5	+	1	403	c.366C>G	c.(364-366)gaC>gaG	p.D122E		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	122					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCCAGGGCGACGCGCTGCAGC	0.667000													24	19					0	0	0.116897	0	0
ATG4D	84971	broad.mit.edu	37	19	10663612	10663612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:10663612G>A	ENST00000309469.4	+	10	1467	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	ATG4D_ENST00000540862.1_Missense_Mutation_p.E99K	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	432					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	p.E432K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CACCCTGGCCGAGGGCCATGC	0.662000													79	90					0	0	0.139131	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20240714	20240714	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:20240714A>T	ENST00000175091.4	-	2	677	c.170T>A	c.(169-171)aTg>aAg	p.M57K		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	57					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAGCTGGCATGGAGTTTGG	0.373000													8	134					0	0	0.069234	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062585	76062585	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:76062585C>G	ENST00000260045.3	-	5	1714	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	537					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GTGGCTTCCTCAAACCAAAAT	0.428000													7	13					0	0	0.058154	0	0
KRT79	338785	broad.mit.edu	37	12	53227664	53227664	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:53227664G>C	ENST00000330553.5	-	1	415	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	127	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTCCACATGGAGGGGGGTCA	0.602000													46	70					0	0	0.139131	0	0
DENND4A	10260	broad.mit.edu	37	15	65982875	65982875	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:65982875C>G	ENST00000443035.3	-	23	4269	c.4054G>C	c.(4054-4056)Gat>Cat	p.D1352H	DENND4A_ENST00000567323.1_5'UTR|DENND4A_ENST00000431932.2_Missense_Mutation_p.D1309H	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGTAGTGTATCTAAGTTAAAT	0.398000													23	32					0	0	0.153744	0	0
HTT	3064	broad.mit.edu	37	4	3241734	3241734	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:3241734A>G	ENST00000355072.5	+	67	9522	c.9377A>G	c.(9376-9378)tAt>tGt	p.Y3126C		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3126					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGAAGCCCATATCACCGGCTG	0.602000													4	14					0	0	0.184627	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303448	151303448	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:151303448C>T	ENST00000370323.4	-	4	961	c.645G>A	c.(643-645)ctG>ctA	p.L215L	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.L215L	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	215	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGACATCACTCAGCATCCCAT	0.522000													49	8					0	0	0.139131	0	0
POLN	353497	broad.mit.edu	37	4	2130961	2130961	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2130961C>G	ENST00000511885.2	-	18	2165	c.1812G>C	c.(1810-1812)acG>acC	p.T604T	POLN_ENST00000382865.1_Silent_p.T604T			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	604					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCGGGGAGATCGTGAGAATCT	0.393000								DNA polymerases (catalytic subunits)					63	46					0	0	0.139131	0	0
ZNF43	7594	broad.mit.edu	37	19	21990730	21990730	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:21990730C>T	ENST00000594012.1	-	7	2605	c.2091G>A	c.(2089-2091)gaG>gaA	p.E697E	ZNF43_ENST00000595461.1_Silent_p.E697E|ZNF43_ENST00000598381.1_Silent_p.E697E|ZNF43_ENST00000354959.4_Silent_p.E703E	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGTAGGGTTTCTCTCCAGTAT	0.363000													20	24					0	0	0.249174	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													5	71					0	0	0.080935	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367800	145367800	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:145367800G>A	ENST00000342960.5	+	83	10431	c.10396G>A	c.(10396-10398)Gat>Aat	p.D3466N	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3466								p.D3466N(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aggggaagaagaTCAAAACCC	0.428000													4	69					0	0	0.217242	0	0
RUVBL1	8607	broad.mit.edu	37	3	127842458	127842458	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:127842458G>A	ENST00000322623.5	-	1	209	c.110C>T	c.(109-111)tCa>tTa	p.S37L	RUVBL1_ENST00000417360.1_Missense_Mutation_p.S37L|RUVBL1_ENST00000464873.1_Intron	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	37					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CACAAGCCCTGAGGCCGCCTG	0.667000													22	17					0	0	0.091800	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29959767	29959767	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:29959767G>C	ENST00000378993.1	+	9	1730		c.e9-1		IL1RAPL1_ENST00000302196.4_Splice_Site	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1						innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTTCTTTCTAGAGCTAATGTA	0.368000													99	5					0	0	0.139131	0	0
KRT6C	286887	broad.mit.edu	37	12	52865237	52865237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:52865237C>T	ENST00000252250.6	-	4	927	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	294	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AAGTTGATCTCATCTGTGAGA	0.488000													42	74					0	0	0.139131	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947797	21947797	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:21947797G>A	ENST00000406877.3	-	4	911	c.632C>T	c.(631-633)tCa>tTa	p.S211L	CDCA7L_ENST00000373934.4_Missense_Mutation_p.S165L|CDCA7L_ENST00000356195.5_Missense_Mutation_p.S177L|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	211					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CAAAGCATCTGAACTCTCCTG	0.498000													10	10					0	0	0.069234	0	0
USHBP1	83878	broad.mit.edu	37	19	17362467	17362467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:17362467C>T	ENST00000252597.3	-	12	2019	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	USHBP1_ENST00000431146.2_Missense_Mutation_p.E552K|AC010646.3_ENST00000594059.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	616							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCACCTGTTCCAGCTCCCTG	0.607000													46	82					0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9083056	9083056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9083056G>A	ENST00000397910.4	-	1	8962	c.8759C>T	c.(8758-8760)tCa>tTa	p.S2920L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2921	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGCATCTGAGTCTGGAAT	0.463000													22	17					0	0	0.083992	0	0
SENP7	57337	broad.mit.edu	37	3	101060619	101060619	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:101060619G>C	ENST00000394095.2	-	15	2164	c.2111C>G	c.(2110-2112)tCa>tGa	p.S704*	SENP7_ENST00000348610.3_Nonsense_Mutation_p.S671*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.S639*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.S638*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.S540*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.S540*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	704					proteolysis	nucleus	cysteine-type peptidase activity	p.S704L(1)|p.S638L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCTGTGTTTGAGGGCTGACA	0.418000													14	22					0	0	0.189662	0	0
DIP2B	57609	broad.mit.edu	37	12	51072628	51072628	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:51072628G>A	ENST00000301180.5	+	8	1117	c.1083G>A	c.(1081-1083)atG>atA	p.M361I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	361						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CACTGGACATGACAGGGAAAC	0.468000													30	56					0	0	0.225048	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533413	94533413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:94533413C>T	ENST00000433060.2	+	3	1198	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.Q303*|AMOTL1_ENST00000317837.9_Nonsense_Mutation_p.Q353*	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	353						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCCTGCTCCTCAGCCTGTGAG	0.567000													54	99					0	0	0.139131	0	0
SNED1	25992	broad.mit.edu	37	2	241992606	241992606	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:241992606C>A	ENST00000310397.8	+	16	2120	c.2120C>A	c.(2119-2121)gCc>gAc	p.A707D	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.A707D|SNED1_ENST00000405547.3_Missense_Mutation_p.A707D|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Missense_Mutation_p.A707D	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	707	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTGAAGCACGCCACACTGCGC	0.711000													5	13					0.0381472	0.0387765	0.038147	1	0
NTM	50863	broad.mit.edu	37	11	132184470	132184470	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:132184470G>A	ENST00000374786.1	+	6	1286	c.807G>A	c.(805-807)gtG>gtA	p.V269V	NTM_ENST00000427481.2_Silent_p.V260V|NTM_ENST00000374791.3_Silent_p.V269V|NTM_ENST00000374784.1_Silent_p.V269V|NTM_ENST00000539799.1_Silent_p.V269V|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Silent_p.V269V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	269	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGAAAGGGGTGAAAGTGGAAA	0.433000													3	22					0	0	0.115264	0	0
PVRL2	5819	broad.mit.edu	37	19	45375398	45375398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45375398C>G	ENST00000252483.5	+	3	767	c.767C>G	c.(766-768)tCt>tGt	p.S256C	PVRL2_ENST00000252485.4_Missense_Mutation_p.S256C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	256	Ig-like C2-type 1.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTGACCCTCTCTGTACGCTGT	0.547000													65	67					0	0	0.139131	0	0
LYZL6	57151	broad.mit.edu	37	17	34261801	34261801	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34261801C>T	ENST00000585556.1	-	5	780	c.446G>A	c.(445-447)tGa>tAa	p.*149*	LYZL6_ENST00000394523.3_Silent_p.*149*|LYZL6_ENST00000293274.4_Silent_p.*149*			O75951	LYZL6_HUMAN	lysozyme-like 6	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACCCTGTTTCATCTCAGGCG	0.512000													40	53					0	0	0.139131	0	0
IFT46	56912	broad.mit.edu	37	11	118416128	118416128	+	Nonsense_Mutation	SNP	G	G	C	rs45508996		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:118416128G>C	ENST00000264020.2	-	12	1345	c.968C>G	c.(967-969)tCa>tGa	p.S323*	IFT46_ENST00000264021.3_Nonsense_Mutation_p.S272*|TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000530872.1_Intron|TMEM25_ENST00000442938.2_Intron	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	272					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GCTCACCTGTGAGTTCTTGAA	0.458000													56	47					0	0	0.139131	0	0
FTSJ2	29960	broad.mit.edu	37	7	2278827	2278827	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:2278827C>G	ENST00000407040.1	-	1	52	c.5G>C	c.(4-6)aGa>aCa	p.R2T	FTSJ2_ENST00000486040.1_Intron|FTSJ2_ENST00000242257.8_Intron|FTSJ2_ENST00000440306.2_Intron			Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	0					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TGCGGGCGGTCTCATGCGAGG	0.468000													53	64					0	0	0.139131	0	0
DNAH3	55567	broad.mit.edu	37	16	20990840	20990840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:20990840C>G	ENST00000261383.3	-	50	7887	c.7888G>C	c.(7888-7890)Gag>Cag	p.E2630Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2630	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGACGCTCTCTTGGAAATAT	0.463000													42	51					0	0	0.139131	0	0
IQGAP1	8826	broad.mit.edu	37	15	91025471	91025471	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:91025471G>A	ENST00000268182.5	+	28	3637	c.3513G>A	c.(3511-3513)ttG>ttA	p.L1171L	IQGAP1_ENST00000560738.1_Silent_p.L599L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1171	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGACTCGTTGCATGAGAAGT	0.502000											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	65					0	0	0.139131	0	0
LDB3	11155	broad.mit.edu	37	10	88446870	88446870	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:88446870C>T	ENST00000429277.2	+	6	879	c.734C>T	c.(733-735)tCg>tTg	p.S245L	LDB3_ENST00000372066.3_Missense_Mutation_p.S130L|LDB3_ENST00000372056.4_Missense_Mutation_p.S245L|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000263066.6_Missense_Mutation_p.S130L|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Missense_Mutation_p.S130L|LDB3_ENST00000310944.6_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	237						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGAAGGACTCGGCCCTGTCC	0.637000													75	208					0	0	0.139131	0	0
ANKRD40	91369	broad.mit.edu	37	17	48784970	48784970	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48784970C>T	ENST00000285243.6	-	1	315	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	16										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GCCGCGGCCTCCCGCAGCCTC	0.682000													65	114					0	0	0.139131	0	0
APPL2	55198	broad.mit.edu	37	12	105582222	105582222	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:105582222G>T	ENST00000258530.3	-	17	1688	c.1463C>A	c.(1462-1464)tCt>tAt	p.S488Y	APPL2_ENST00000539978.2_Missense_Mutation_p.S445Y|APPL2_ENST00000551662.1_Missense_Mutation_p.S494Y	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	488	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGCAAAAGAGAATCTGGAAG	0.418000													17	20					2.37509e-13	2.50732e-13	0.219247	1	0
ZFP64	55734	broad.mit.edu	37	20	50769825	50769825	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:50769825G>C	ENST00000216923.4	-	6	1255	c.906C>G	c.(904-906)ctC>ctG	p.L302L	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.L300L|ZFP64_ENST00000346617.4_Silent_p.L248L	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTGCGACTTGAGGTTCCCCT	0.557000													45	147					0	0	0.139131	0	0
C1S	716	broad.mit.edu	37	12	7177945	7177945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:7177945G>A	ENST00000406697.1	+	15	2685	c.2057G>A	c.(2056-2058)cGt>cAt	p.R686H	C1S_ENST00000360817.5_Missense_Mutation_p.R686H|C1S_ENST00000328916.3_Missense_Mutation_p.R686H|C1S_ENST00000402681.3_Missense_Mutation_p.R519H			P09871	C1S_HUMAN	complement component 1, s subcomponent	686					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.R686H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGCACCCCCCGTGAGGACTAA	0.483000													45	71					0	0	0.139131	0	0
FAM105B	90268	broad.mit.edu	37	5	14690313	14690313	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:14690313C>T	ENST00000284274.4	+	6	838	c.760C>T	c.(760-762)Cca>Tca	p.P254S		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	254										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAAGGAAGTACCATTTTTCTC	0.428000													28	20					0	0	0.125774	0	0
INTS12	57117	broad.mit.edu	37	4	106603932	106603932	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:106603932C>T	ENST00000451321.2	-	7	1826	c.1347G>A	c.(1345-1347)caG>caA	p.Q449Q	INTS12_ENST00000340139.5_Silent_p.Q449Q|INTS12_ENST00000394735.1_Silent_p.Q449Q	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	449					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCTTGACCATCTGTAATCGCT	0.408000													67	110					0	0	0.139131	0	0
MYCBP2	23077	broad.mit.edu	37	13	77667465	77667465	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:77667465T>C	ENST00000407578.2	-	59	10468	c.10202A>G	c.(10201-10203)cAt>cGt	p.H3401R	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H3363R|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H3363R	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCATGATGATGCCTGCATTA	0.358000													7	127					0	0	0.248553	0	0
OIP5	11339	broad.mit.edu	37	15	41624731	41624731	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:41624731G>C	ENST00000220514.3	-	1	88	c.29C>G	c.(28-30)tCa>tGa	p.S10*		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	10					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGCACAACGTGAGCGATGCCG	0.637000													59	62					0	0	0.139131	0	0
NLRP2	55655	broad.mit.edu	37	19	55494122	55494122	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55494122C>G	ENST00000543010.1	+	6	1199	c.1056C>G	c.(1054-1056)atC>atG	p.I352M	NLRP2_ENST00000263437.6_Missense_Mutation_p.I349M|NLRP2_ENST00000339757.7_Missense_Mutation_p.I330M|NLRP2_ENST00000427260.2_Missense_Mutation_p.I329M|NLRP2_ENST00000391721.4_Missense_Mutation_p.I328M|NLRP2_ENST00000448584.2_Missense_Mutation_p.I352M|NLRP2_ENST00000538819.1_Missense_Mutation_p.I328M|NLRP2_ENST00000537859.1_Missense_Mutation_p.I330M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	352	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGCCGATCTACATAAGGG	0.607000													10	13					0	0	0.080935	0	0
SREBF2	6721	broad.mit.edu	37	22	42280950	42280950	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:42280950G>C	ENST00000361204.4	+	11	2309	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	715					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CACACTGGTTGAGATCCATCT	0.587000													41	56					0	0	0.139131	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097727	43097727	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:43097727C>A	ENST00000244336.5	-	2	491	c.390G>T	c.(388-390)atG>atT	p.M130I	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	130	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTTCTTCACTCATAAGATTTA	0.473000													43	85					1.22674e-20	1.31475e-20	0.268233	1	0
CELF5	60680	broad.mit.edu	37	19	3275921	3275921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3275921C>G	ENST00000541430.2	+	4	498	c.462C>G	c.(460-462)ttC>ttG	p.F154L	CELF5_ENST00000292672.2_Missense_Mutation_p.F154L	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	154	RRM 2.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TGCGGCTGTTCCAGCCCTTCG	0.697000													37	27					0	0	0.139131	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260398	44260398	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:44260398C>T	ENST00000315087.7	-	7	1398	c.738G>A	c.(736-738)ctG>ctA	p.L246L	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.L282L|ST8SIA5_ENST00000536490.1_Silent_p.L215L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	246					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGAAGGCAGGCAGCAGCACCG	0.607000													7	15					0	0	0.038147	0	0
PHKA1	5255	broad.mit.edu	37	X	71843049	71843049	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:71843049C>T	ENST00000373545.3	-	18	2308	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	PHKA1_ENST00000373539.3_Missense_Mutation_p.E624K|PHKA1_ENST00000541944.1_Missense_Mutation_p.E624K|PHKA1_ENST00000339490.3_Missense_Mutation_p.E624K|PHKA1_ENST00000373542.4_Missense_Mutation_p.E624K			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	624					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGCTTACCCTCAGGTCCAGGG	0.408000													38	1					0	0	0.268233	0	0
ZNF224	7767	broad.mit.edu	37	19	44612276	44612276	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:44612276G>A	ENST00000336976.6	+	6	2217	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	655					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				ATACAAATGTGAGGACTGTGG	0.433000													36	59					0	0	0.131918	0	0
CYP1B1	1545	broad.mit.edu	37	2	38298398	38298398	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:38298398C>A	ENST00000260630.3	-	3	1500	c.1099G>T	c.(1099-1101)Gac>Tac	p.D367Y	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.D367Y	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	367					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GGCAGACGGTCCCTCCCCACG	0.517000													35	22					3.4345e-17	3.64915e-17	0.124865	1	0
GTSF1L	149699	broad.mit.edu	37	20	42354926	42354926	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:42354926C>G	ENST00000373003.1	-	1	712	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	GTSF1L_ENST00000373005.2_Missense_Mutation_p.E112Q	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	137							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGACTGGTCTCTCTTGCTGAC	0.473000													67	39					0	0	0.139131	0	0
GIT1	28964	broad.mit.edu	37	17	27903633	27903633	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:27903633C>T	ENST00000225394.3	-	13	1535	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L	GIT1_ENST00000581348.1_Silent_p.L438L|GIT1_ENST00000394869.3_Silent_p.L438L|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Silent_p.L429L	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	429					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGGCCTTCTTCAGCTCCAGGT	0.617000													25	30					0	0	0.108266	0	0
GRM5	2915	broad.mit.edu	37	11	88780766	88780766	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:88780766C>T	ENST00000418177.2	-	2	642	c.275G>A	c.(274-276)gGc>gAc	p.G92D	GRM5_ENST00000305447.4_Missense_Mutation_p.G92D|GRM5_ENST00000393297.1_Missense_Mutation_p.G92D|GRM5_ENST00000393294.3_Missense_Mutation_p.G92D|GRM5_ENST00000305432.5_Missense_Mutation_p.G92D|GRM5_ENST00000455756.2_Missense_Mutation_p.G92D			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	92					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TATCTCACAGCCCAGTGTGAT	0.522000													10	16					0	0	0.132662	0	0
TENM1	10178	broad.mit.edu	37	X	124097480	124097480	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:124097480G>A	ENST00000422452.2	-	1	186	c.123C>T	c.(121-123)aaC>aaT	p.N41N	TENM1_ENST00000371130.3_Silent_p.N41N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCTCCCTGGAGTTGTATGACT	0.428000													55	77					0	0	0.139131	0	0
N4BP2	55728	broad.mit.edu	37	4	40122276	40122276	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:40122276G>C	ENST00000261435.6	+	9	2961	c.2545G>C	c.(2545-2547)Gag>Cag	p.E849Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	849						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGAAAGTGTAGAGGATGGCAG	0.358000													36	45					0	0	0.268233	0	0
ACOX3	8310	broad.mit.edu	37	4	8396454	8396454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:8396454G>A	ENST00000356406.5	-	10	1149	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	ACOX3_ENST00000413009.2_Missense_Mutation_p.P358S|ACOX3_ENST00000503233.1_Missense_Mutation_p.P358S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	358					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCCAGATATGGAAGCAAGCGC	0.577000													13	139					0	0	0.119110	0	0
GDAP1	54332	broad.mit.edu	37	8	75272520	75272520	+	Silent	SNP	G	G	T	rs149804782	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:75272520G>T	ENST00000220822.7	+	3	539	c.459G>T	c.(457-459)ccG>ccT	p.P153P	GDAP1_ENST00000434412.2_Silent_p.P85P|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	153	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCATGATCCCGGCTTATGCAA	0.418000													42	61					3.50607e-19	3.74944e-19	0.139131	1	0
GSAP	54103	broad.mit.edu	37	7	77011907	77011907	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:77011907C>T	ENST00000257626.7	-	7	588	c.510G>A	c.(508-510)ctG>ctA	p.L170L		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		CTTCTGAAATCAGTAACAGAT	0.343000													13	31					0	0	0.189662	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062117	76062117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:76062117C>G	ENST00000260045.3	-	5	2182	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	693					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CGCTCATTCTCAACCTTCATC	0.418000													34	20					0	0	0.268233	0	0
EXPH5	23086	broad.mit.edu	37	11	108383904	108383904	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:108383904T>A	ENST00000265843.4	-	6	2440	c.2330A>T	c.(2329-2331)gAt>gTt	p.D777V	EXPH5_ENST00000428840.1_Missense_Mutation_p.D701V|EXPH5_ENST00000443411.1_Missense_Mutation_p.D589V|EXPH5_ENST00000525344.1_Missense_Mutation_p.D770V	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	777					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTGGAGGTATCTTTCCTGGA	0.388000													34	52					0	0	0.139131	0	0
GALK1	2584	broad.mit.edu	37	17	73759154	73759154	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:73759154G>A	ENST00000588479.1	-	4	1126	c.552C>T	c.(550-552)atC>atT	p.I184I	GALK1_ENST00000225614.2_Silent_p.I184I|GALK1_ENST00000437911.1_Silent_p.I214I			P51570	GALK1_HUMAN	galactokinase 1	184			I -> M.		galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGTCCATGATGCCACAGG	0.632000													42	64					0	0	0.139131	0	0
SLC12A6	9990	broad.mit.edu	37	15	34544565	34544565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:34544565C>T	ENST00000354181.3	-	10	1631	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	SLC12A6_ENST00000560164.1_Missense_Mutation_p.R192H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R380H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R380H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R321H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R329H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R365H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R371H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R321H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R192H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	380					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TGAAAGGGTGCGGTTACCCAG	0.383000													23	40					0	0	0.125774	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222358	140222358	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:140222358G>A	ENST00000531613.1	+	1	1452	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.A484A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.657000													44	69					0	0	0.139131	0	0
HERC1	8925	broad.mit.edu	37	15	64048748	64048748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:64048748G>A	ENST00000443617.2	-	5	1508	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	474					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCTTCTGTCGTAAAGGCTAA	0.393000													31	29					0	0	0.163468	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													20	9					0	0	0.116897	0	0
RSPH10B	222967	broad.mit.edu	37	7	5967926	5967926	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:5967926T>C	ENST00000405415.1	-	19	2719	c.2333A>G	c.(2332-2334)aAa>aGa	p.K778R	RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000404406.1_Missense_Mutation_p.K778R|RSPH10B_ENST00000337579.3_Missense_Mutation_p.K778R|RSPH10B_ENST00000441023.2_Missense_Mutation_p.K778R			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	778										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TTCTTCACGTTTATACGCATG	0.463000													28	177					0	0	0.139131	0	0
MED1	5469	broad.mit.edu	37	17	37564544	37564544	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:37564544C>T	ENST00000300651.6	-	17	4153	c.3930G>A	c.(3928-3930)ctG>ctA	p.L1310L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1310	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCCCATGCTTCAGTTTATCTA	0.522000										HNSCC(31;0.082)			44	61					0	0	0.139131	0	0
FSTL5	56884	broad.mit.edu	37	4	163032430	163032430	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:163032430C>T	ENST00000306100.5	-	2	555	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	FSTL5_ENST00000427802.2_Missense_Mutation_p.R40Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.R40Q|FSTL5_ENST00000536695.1_Missense_Mutation_p.R40Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	40						extracellular region	calcium ion binding	p.R40Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TACCTTATGTCGCAATCTCAT	0.393000													12	176					0	0	0.160694	0	0
PTPN9	5780	broad.mit.edu	37	15	75798201	75798201	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75798201G>A	ENST00000306726.2	-	7	1295	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	261						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATCTCATCGAAGGGATCTG	0.527000													23	46					0	0	0.108266	0	0
KIAA1009	22832	broad.mit.edu	37	6	84872884	84872884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:84872884C>T	ENST00000403245.3	-	19	2605	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.D755N	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	831					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GCAATCTGATCTTTGGCTTGG	0.333000													25	79					0	0	0.125774	0	0
SNAPC2	6618	broad.mit.edu	37	19	7986331	7986331	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:7986331C>G	ENST00000221573.6	+	2	258	c.207C>G	c.(205-207)ctC>ctG	p.L69L	SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	69					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TCCAGCAGCTCAAGGGCCGCG	0.622000													27	38					0	0	0.193644	0	0
FAM13A	10144	broad.mit.edu	37	4	89671699	89671699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:89671699G>A	ENST00000264344.5	-	15	2023	c.1816C>T	c.(1816-1818)Cag>Tag	p.Q606*	FAM13A_ENST00000508369.1_Nonsense_Mutation_p.Q280*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.Q280*|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.Q266*|FAM13A_ENST00000513837.1_Nonsense_Mutation_p.Q252*|FAM13A_ENST00000511976.1_Nonsense_Mutation_p.Q192*	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	606					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCCAGCAGCTGACGGATCAGG	0.592000													25	46					0	0	0.091800	0	0
KRT20	54474	broad.mit.edu	37	17	39041067	39041067	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:39041067A>G	ENST00000167588.3	-	1	412	c.371T>C	c.(370-372)aTt>aCt	p.I124T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	124	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CAGCTCTTCAATTTGTCTGTA	0.458000													38	58					0	0	0.139131	0	0
FBXO21	23014	broad.mit.edu	37	12	117595695	117595695	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:117595695G>A	ENST00000427718.2	-	10	1574	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	FBXO21_ENST00000330622.5_Silent_p.L507L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	507					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCTTCATAATGAGCCCGATGG	0.562000													51	65					0	0	0.139131	0	0
TRPC4	7223	broad.mit.edu	37	13	38225530	38225530	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:38225530C>A	ENST00000379705.3	-	8	2808	c.1951G>T	c.(1951-1953)Ggt>Tgt	p.G651C	TRPC4_ENST00000379679.1_Missense_Mutation_p.G478C|TRPC4_ENST00000358477.2_Missense_Mutation_p.G651C|TRPC4_ENST00000338947.5_Missense_Mutation_p.G478C|TRPC4_ENST00000447043.1_Missense_Mutation_p.G651C|TRPC4_ENST00000355779.2_Missense_Mutation_p.G651C|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.G651C			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	651	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCAGAGTACCTCCTTCTTCA	0.433000													60	47					3.13765e-25	3.40719e-25	0.139131	1	0
ZFR	51663	broad.mit.edu	37	5	32364311	32364311	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:32364311C>G	ENST00000265069.8	-	18	3008	c.2906G>C	c.(2905-2907)aGa>aCa	p.R969T	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	969	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AAAAACTCTTCTCAGTGCATC	0.353000													51	45					0	0	0.139131	0	0
POLN	353497	broad.mit.edu	37	4	2130975	2130975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2130975C>T	ENST00000511885.2	-	18	2151	c.1798G>A	c.(1798-1800)Gac>Aac	p.D600N	POLN_ENST00000382865.1_Missense_Mutation_p.D600N			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	600					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGAATCTTGTCTTCTTTACCT	0.378000								DNA polymerases (catalytic subunits)					40	38					0	0	0.139131	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102980483	102980483	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:102980483C>G	ENST00000375735.2	+	1	324	c.180C>G	c.(178-180)atC>atG	p.I60M	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.I60M|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I60M	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	60	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACGCAGGAATCTCCTTTTCCA	0.557000													27	21					0	0	0.163468	0	0
KIAA1468	57614	broad.mit.edu	37	18	59954630	59954630	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:59954630G>A	ENST00000256858.6	+	27	3650	c.3402G>A	c.(3400-3402)caG>caA	p.Q1134Q	KIAA1468_ENST00000398130.2_Silent_p.Q1100Q			Q9P260	K1468_HUMAN	KIAA1468	1100							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACAACTTACAGATTGTGGATT	0.348000													39	24					0	0	0.124865	0	0
BBOX1	8424	broad.mit.edu	37	11	27077157	27077157	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:27077157G>A	ENST00000263182.3	+	3	548	c.180G>A	c.(178-180)gtG>gtA	p.V60V	RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Silent_p.V60V|BBOX1_ENST00000529202.1_Silent_p.V60V|BBOX1_ENST00000528583.1_Silent_p.V60V|BBOX1_ENST00000527505.1_3'UTR	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	60					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTCTTGATGTGAACATTGGAA	0.408000													9	12					0	0	0.080935	0	0
C11orf57	55216	broad.mit.edu	37	11	111946331	111946331	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:111946331G>T	ENST00000280352.9	+	2	669	c.33G>T	c.(31-33)ctG>ctT	p.L11L	C11orf57_ENST00000530104.1_Silent_p.L11L|C11orf57_ENST00000420986.2_Silent_p.L11L|C11orf57_ENST00000532163.1_5'UTR|C11orf57_ENST00000393047.3_Silent_p.L11L	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	11										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGGTCCTCCTGAGGAATGTCA	0.413000													22	25					6.07407e-21	6.52401e-21	0.125774	1	0
OGDH	4967	broad.mit.edu	37	7	44664045	44664045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:44664045C>T	ENST00000222673.5	+	2	145	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	OGDH_ENST00000447398.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000449767.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000439616.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000443864.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000444676.1_Nonsense_Mutation_p.Q35*	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	35					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.Q35K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TAGGACATTTCAACAGATTCG	0.468000													101	124					0	0	0.139131	0	0
TEX11	56159	broad.mit.edu	37	X	70099855	70099855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:70099855C>A	ENST00000395889.2	-	4	342	c.187G>T	c.(187-189)Gaa>Taa	p.E63*	TEX11_ENST00000344304.3_Nonsense_Mutation_p.E63*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.E48*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	63							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTGTTATTTCAGCCATAGAC	0.313000													10	20					9.31168e-06	9.58384e-06	0.105934	1	0
NCOA2	10499	broad.mit.edu	37	8	71068649	71068649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:71068649G>A	ENST00000452400.2	-	11	2132	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	651					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTCCATCTGATCAGATTTG	0.567000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								48	85					0	0	0.139131	0	0
STAT5B	6777	broad.mit.edu	37	17	40370258	40370258	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:40370258C>T	ENST00000293328.3	-	9	1248	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	360					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGTGCACGTTCAGCTTCCCGC	0.577000													5	105					0	0	0.184627	0	0
C16orf98	100652740	broad.mit.edu	37	16	31214087	31214087	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:31214087G>A	ENST00000561916.2	+	2	409	c.313G>A	c.(313-315)Gga>Aga	p.G105R	PYCARD_ENST00000247470.9_5'UTR					chromosome 16 open reading frame 98																		GCTCCGGGGCGGAACCTGGAC	0.721000													2	2					0	0	0.115264	0	0
SLC15A3	51296	broad.mit.edu	37	11	60718900	60718900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:60718900C>T	ENST00000227880.3	-	1	357	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	42					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TCCAGCATCTCCACCAGCAGC	0.756000													3	7					0	0	0.150653	0	0
GLT8D1	55830	broad.mit.edu	37	3	52730304	52730304	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:52730304G>A	ENST00000407584.3	-	7	1328	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	GLT8D1_ENST00000394783.3_Silent_p.L160L|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000478968.2_Silent_p.L160L|GLT8D1_ENST00000266014.5_Silent_p.L160L|GLT8D1_ENST00000491606.1_Silent_p.L160L	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	160						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGGAACCAGAATTGGCAAG	0.418000													3	61					0	0	0.150653	0	0
AZI1	22994	broad.mit.edu	37	17	79170817	79170817	+	Silent	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:79170817C>A	ENST00000269392.4	-	14	1942	c.1695G>T	c.(1693-1695)ctG>ctT	p.L565L	AZI1_ENST00000450824.2_Silent_p.L562L|AZI1_ENST00000575907.1_Silent_p.L565L|AZI1_ENST00000374782.3_Silent_p.L562L	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	565					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTCGGACCCCAGCTCCAGGG	0.692000													7	6					3.09899e-07	3.20966e-07	0.047766	1	0
BIRC3	330	broad.mit.edu	37	11	102195686	102195686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:102195686G>C	ENST00000263464.3	+	2	3196	c.446G>C	c.(445-447)aGa>aCa	p.R149T	BIRC3_ENST00000532808.1_Missense_Mutation_p.R149T	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	149					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GTAAACTCCAGAGCAAATCAA	0.393000			T	MALT1	MALT								41	73					0	0	0.139131	0	0
FAM83B	222584	broad.mit.edu	37	6	54735420	54735420	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:54735420C>A	ENST00000306858.7	+	2	492	c.376C>A	c.(376-378)Cat>Aat	p.H126N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	126										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTCCTTTTTCATCCACCAAG	0.398000													16	35					5.03518e-11	5.28159e-11	0.189662	1	0
MYO1H	283446	broad.mit.edu	37	12	109872912	109872912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:109872912C>T	ENST00000310903.5	+	21	2192	c.2086C>T	c.(2086-2088)Caa>Taa	p.Q696*	MYO1H_ENST00000431443.2_Nonsense_Mutation_p.Q706*			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TAGTAAACATCAACTAGGTAT	0.343000													10	18					0	0	0.093190	0	0
CCDC140	151278	broad.mit.edu	37	2	223169071	223169071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:223169071G>C	ENST00000295226.1	+	2	834	c.450G>C	c.(448-450)aaG>aaC	p.K150N		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	150										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		aagagagaaagagaagaaaag	0.473000													5	2					0	0	0.184627	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968353	64968353	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:64968353G>A	ENST00000399262.2	-	10	3294	c.3076C>T	c.(3076-3078)Ctt>Ttt	p.L1026F	JMJD1C_ENST00000542921.1_Missense_Mutation_p.L844F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.L807F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L807F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1026					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.L1026F(1)|p.L807F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTTTCTTGAAGAATTCGACGG	0.423000													31	69					0	0	0.163468	0	0
SACS	26278	broad.mit.edu	37	13	23909330	23909330	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:23909330G>A	ENST00000382298.3	-	10	9273	c.8685C>T	c.(8683-8685)aaC>aaT	p.N2895N	SACS_ENST00000382292.3_Silent_p.N2895N|SACS_ENST00000402364.1_Silent_p.N2145N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2895					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACGCCACAGGTTCCTTCTGG	0.433000													35	28					0	0	0.235728	0	0
KCNC1	3746	broad.mit.edu	37	11	17757753	17757753	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:17757753G>A	ENST00000379472.3	+	1	234	c.204G>A	c.(202-204)ctG>ctA	p.L68L	KCNC1_ENST00000265969.6_Silent_p.L68L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	68						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCACATCCTGAACTACTACC	0.672000													24	33					0	0	0.099896	0	0
PCNT	5116	broad.mit.edu	37	21	47855826	47855826	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:47855826G>A	ENST00000359568.5	+	39	8868	c.8761G>A	c.(8761-8763)Gaa>Aaa	p.E2921K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2921					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCGAGAATTAGAACTGCAGCG	0.527000													20	38					0	0	0.234183	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179358588	179358588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:179358588G>A	ENST00000234453.5	+	4	724	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AGAAATAAGTGAAACCAGTGA	0.308000													6	24					0	0	0.047766	0	0
NOS3	4846	broad.mit.edu	37	7	150693932	150693932	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:150693932G>C	ENST00000297494.3	+	5	858	c.501G>C	c.(499-501)gaG>gaC	p.E167D	NOS3_ENST00000467517.1_Missense_Mutation_p.E167D|NOS3_ENST00000461406.1_Intron|NOS3_ENST00000484524.1_Missense_Mutation_p.E167D	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	167	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGCTTAGGGAGAGCGAGCTGG	0.692000													7	11					0	0	0.058154	0	0
C9	735	broad.mit.edu	37	5	39311467	39311467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:39311467G>C	ENST00000263408.4	-	7	978	c.883C>G	c.(883-885)Ctg>Gtg	p.L295V		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	295	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTCACATGCAGAAACATTTTT	0.348000													27	15					0	0	0.153744	0	0
URGCP	55665	broad.mit.edu	37	7	43916794	43916794	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:43916794C>G	ENST00000336086.6	-	4	4375	c.2139G>C	c.(2137-2139)ttG>ttC	p.L713F	URGCP_ENST00000443736.1_Missense_Mutation_p.L713F|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.L713F|URGCP_ENST00000223341.7_Missense_Mutation_p.L713F|URGCP_ENST00000453200.1_Missense_Mutation_p.L756F|URGCP_ENST00000402306.3_Missense_Mutation_p.L747F			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	756					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCACCTATCAAGCCCCCGG	0.597000													19	21					0	0	0.234183	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097723	43097723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:43097723C>T	ENST00000244336.5	-	2	495	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	132	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GTTACTTCTTCACTCATAAGA	0.483000													39	80					0	0	0.235728	0	0
DGKA	1606	broad.mit.edu	37	12	56345848	56345848	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56345848C>T	ENST00000331886.5	+	19	2071	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	DGKA_ENST00000551156.1_Silent_p.I539I|DGKA_ENST00000394147.1_Silent_p.I539I|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	539					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GATTCCACATCATGCGAGAGA	0.522000													73	53					0	0	0.139131	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													3	93					0	0	0.150653	0	0
SLK	9748	broad.mit.edu	37	10	105763061	105763061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:105763061C>G	ENST00000369755.3	+	9	2670	c.2125C>G	c.(2125-2127)Cta>Gta	p.L709V	SLK_ENST00000335753.4_Missense_Mutation_p.L709V	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	709					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCAGCCTGTTCTAATACCCAG	0.353000													30	20					0	0	0.111260	0	0
BGN	633	broad.mit.edu	37	X	152770152	152770152	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:152770152G>A	ENST00000331595.4	+	2	249	c.63G>A	c.(61-63)caG>caA	p.Q21Q	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	21						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGAGCAGAGAGGCTTCT	0.642000													34	1					0	0	0.225048	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64132939	64132939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:64132939C>G	ENST00000295902.6	-	7	1812	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q465H	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	409						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGGTCTGGTTCTGCTCCATCT	0.612000													50	73					0	0	0.139131	0	0
CAD	790	broad.mit.edu	37	2	27465812	27465812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:27465812C>T	ENST00000264705.4	+	42	6613	c.6451C>T	c.(6451-6453)Cga>Tga	p.R2151*	CAD_ENST00000403525.1_Nonsense_Mutation_p.R2088*	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2151	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGAAGGAACGATTTGGCTC	0.552000													14	42					0	0	0.219247	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519256	50519256	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:50519256G>C	ENST00000267842.5	+	7	1570	c.1338G>C	c.(1336-1338)gaG>gaC	p.E446D	SLC27A2_ENST00000544960.1_Missense_Mutation_p.E211D|SLC27A2_ENST00000380902.4_Missense_Mutation_p.E393D	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	446					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTCAGACAGAGAAGAAAAAAC	0.383000													10	13					0	0	0.069234	0	0
FGFR3	2261	broad.mit.edu	37	4	1803395	1803395	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803395G>A	ENST00000340107.4	+	6	920	c.664G>A	c.(664-666)Gac>Aac	p.D222N	FGFR3_ENST00000440486.2_Missense_Mutation_p.D222N|FGFR3_ENST00000260795.2_Missense_Mutation_p.D222N|FGFR3_ENST00000412135.2_Missense_Mutation_p.D222N|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.D222N|FGFR3_ENST00000352904.1_Missense_Mutation_p.D222N	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	222	Ig-like C2-type 2.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGTGCCCTCGGACCGCGGCAA	0.692000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				15	292					0	0	0.264190	0	0
RXFP2	122042	broad.mit.edu	37	13	32366994	32366994	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:32366994G>C	ENST00000298386.2	+	16	1626	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	RXFP2_ENST00000380314.1_Missense_Mutation_p.E495Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	519						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTGACTTTGGAGAAGTTCCT	0.517000													20	28					0	0	0.091800	0	0
HSPA8	3312	broad.mit.edu	37	11	122931883	122931883	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:122931883C>T	ENST00000534624.1	-	2	426	c.150G>A	c.(148-150)ttG>ttA	p.L50L	HSPA8_ENST00000532636.1_Silent_p.L50L|HSPA8_ENST00000453788.2_Silent_p.L50L|HSPA8_ENST00000227378.3_Silent_p.L50L|HSPA8_ENST00000526110.1_Silent_p.L50L|HSPA8_ENST00000533540.1_Silent_p.L50L	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	50					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CATCACCGATCAACCGTTCAG	0.448000													15	33					0	0	0.204396	0	0
ITGA3	3675	broad.mit.edu	37	17	48133990	48133990	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48133990G>A	ENST00000320031.8	+	1	517	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ITGA3_ENST00000544892.1_5'UTR|ITGA3_ENST00000007722.7_Missense_Mutation_p.E63K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	63					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCGGCAGACAGAGCGGCAGCA	0.662000													12	17					0	0	0.160694	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751570	33751570	+	Silent	SNP	C	C	T	rs143045075		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:33751570C>T	ENST00000504830.1	-	3	908	c.573G>A	c.(571-573)ccG>ccA	p.P191P	ADAMTS12_ENST00000352040.3_Silent_p.P191P|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Silent_p.P191P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	191					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P191P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAACGATGTGCGGGTGGTACC	0.463000										HNSCC(64;0.19)			26	70					0	0	0.134883	0	0
MYO3B	140469	broad.mit.edu	37	2	171070928	171070928	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:171070928C>G	ENST00000334231.6	+	4	388	c.388C>G	c.(388-390)Cta>Gta	p.L130V	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.L121V|MYO3B_ENST00000408978.4_Missense_Mutation_p.L121V			Q8WXR4	MYO3B_HUMAN	myosin IIIB	121	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTCAAAGGTCTACTCAGATG	0.483000													46	48					0	0	0.139131	0	0
DENND5B	160518	broad.mit.edu	37	12	31540607	31540607	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540607C>T	ENST00000389082.5	-	21	4019	c.3755G>A	c.(3754-3756)cGa>cAa	p.R1252Q	DENND5B_ENST00000536562.1_Missense_Mutation_p.R1287Q|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1287Q	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1252	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGCAGAATTCGGATAAGGGA	0.488000													16	29					0	0	0.175082	0	0
ZAN	7455	broad.mit.edu	37	7	100382358	100382358	+	RNA	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100382358G>A	ENST00000542585.1	+	0	6881				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCTGCGCTGAGGGCTGCAT	0.612000													23	36					0	0	0.091800	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													5	153					0	0	0.058154	0	0
FRYL	285527	broad.mit.edu	37	4	48503750	48503750	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:48503750C>G	ENST00000537810.1	-	62	9086	c.8482G>C	c.(8482-8484)Gaa>Caa	p.E2828Q	FRYL_ENST00000507873.2_Splice_Site_p.E218Q|FRYL_ENST00000503238.1_Splice_Site_p.E2828Q|FRYL_ENST00000264319.7_Splice_Site_p.E218Q|FRYL_ENST00000358350.4_Splice_Site_p.E2828Q			O94915	FRYL_HUMAN	FRY-like	2828					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGCTCCAATTCCTAGAAATAA	0.294000													62	46					0	0	0.139131	0	0
TMC2	117532	broad.mit.edu	37	20	2582792	2582792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:2582792G>C	ENST00000358864.1	+	11	1273	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	420						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGTAACAAAGAAGAAAATAT	0.403000													40	32					0	0	0.139131	0	0
C1orf173	127254	broad.mit.edu	37	1	75037663	75037663	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:75037663G>T	ENST00000326665.5	-	14	3949	c.3731C>A	c.(3730-3732)gCa>gAa	p.A1244E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1244	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATCTTTGGCTGCTAGCTCCTC	0.617000													15	40					1.01871e-10	1.0663e-10	0.204396	1	0
NCSTN	23385	broad.mit.edu	37	1	160322686	160322686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:160322686G>A	ENST00000368063.1	+	10	1226	c.946G>A	c.(946-948)Gac>Aac	p.D316N	NCSTN_ENST00000535857.1_Missense_Mutation_p.D198N|NCSTN_ENST00000392212.4_Missense_Mutation_p.D316N|NCSTN_ENST00000368065.4_Missense_Mutation_p.D78N|NCSTN_ENST00000294785.5_Missense_Mutation_p.D336N|NCSTN_ENST00000459963.1_3'UTR			Q92542	NICA_HUMAN	nicastrin	336					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAACTTTTGACTACATTGG	0.502000													22	132					0	0	0.116897	0	0
BTNL2	56244	broad.mit.edu	37	6	32362585	32362585	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:32362585G>A	ENST00000454136.3	-	6	1300	c.1296C>T	c.(1294-1296)gaC>gaT	p.D432D	BTNL2_ENST00000544175.1_Silent_p.D155D|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374993.1_Silent_p.D432D|BTNL2_ENST00000374995.3_Silent_p.D338D|BTNL2_ENST00000414363.1_Silent_p.D222D|BTNL2_ENST00000540315.1_Silent_p.D222D			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	432						integral to membrane		p.D432D(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AACAAGTGACGTCCACAGCGG	0.498000													11	140					0	0	0.119110	0	0
CAST	831	broad.mit.edu	37	5	96031567	96031567	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:96031567C>G	ENST00000395813.1	+	3	352	c.166C>G	c.(166-168)Caa>Gaa	p.Q56E	CAST_ENST00000395812.2_Missense_Mutation_p.Q56E|CAST_ENST00000341926.3_5'UTR|CAST_ENST00000508830.1_Missense_Mutation_p.Q56E|CAST_ENST00000359176.4_Missense_Mutation_p.Q56E|CAST_ENST00000510756.1_Missense_Mutation_p.Q56E|CAST_ENST00000508608.1_Missense_Mutation_p.Q41E|CAST_ENST00000338252.3_5'UTR|CAST_ENST00000325674.7_Missense_Mutation_p.Q56E	NM_001284213.1	NP_001271142.1	P20810	ICAL_HUMAN	calpastatin	125							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CGGCAGCAGTCAATCCTCCAG	0.423000													14	12					0	0	0.160694	0	0
MPHOSPH6	10200	broad.mit.edu	37	16	82203772	82203772	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:82203772G>A	ENST00000258169.4	-	1	59	c.9C>T	c.(7-9)gcC>gcT	p.A3A	MPHOSPH6_ENST00000569021.1_Silent_p.A3A|MPHOSPH6_ENST00000563504.1_5'UTR|MPHOSPH6_ENST00000567729.1_5'UTR	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	3					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TCTTTCGCTCGGCCGCCATGG	0.692000													4	2					0	0	0.119110	0	0
ACVR2A	92	broad.mit.edu	37	2	148653908	148653908	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:148653908T>G	ENST00000241416.7	+	2	730	c.94T>G	c.(94-96)Ttc>Gtc	p.F32V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.F32V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	32					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GGAGTGTCTTTTCTTTAATGC	0.348000													34	22					0	0	0.139131	0	0
IKZF2	22807	broad.mit.edu	37	2	213914495	213914495	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:213914495G>T	ENST00000457361.1	-	5	684	c.516C>A	c.(514-516)ttC>ttA	p.F172L	IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000374319.4_Missense_Mutation_p.F146L|IKZF2_ENST00000421754.2_Missense_Mutation_p.F146L|IKZF2_ENST00000451136.2_Missense_Mutation_p.F146L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F172L|IKZF2_ENST00000434687.1_Missense_Mutation_p.F172L|IKZF2_ENST00000342002.2_Missense_Mutation_p.F178L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CGTAGCTACAGAAAGGACATT	0.473000													23	37					2.41591e-17	2.57245e-17	0.099896	1	0
NFKBIE	4794	broad.mit.edu	37	6	44233273	44233273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233273C>T	ENST00000275015.5	-	1	227	c.228G>A	c.(226-228)tgG>tgA	p.W76*		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	76					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGCCAGGTCCACCCAGCGG	0.771000													3	6					0	0	0.150653	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759135	121759135	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:121759135G>A	ENST00000261367.7	+	6	2272	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	SNCAIP_ENST00000261368.8_Missense_Mutation_p.E235K|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E282K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E282K|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E235K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	235					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTCCACTGAAGAAACCGAGAT	0.458000													23	39					0	0	0.083992	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925317	6925317	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:6925317G>A	ENST00000409757.4	+	2	325	c.201G>A	c.(199-201)ggG>ggA	p.G67G	TBC1D14_ENST00000448507.1_Silent_p.G67G	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	67						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGGACTCGGGGATTCCTACCC	0.652000													7	87					0	0	0.047766	0	0
NBR1	4077	broad.mit.edu	37	17	41345231	41345231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:41345231G>A	ENST00000422280.1	+	11	1653	c.1194G>A	c.(1192-1194)atG>atA	p.M398I	NBR1_ENST00000590996.1_Missense_Mutation_p.M398I|NBR1_ENST00000589872.1_Missense_Mutation_p.M398I|NBR1_ENST00000542611.1_Missense_Mutation_p.M377I|NBR1_ENST00000389312.4_Missense_Mutation_p.M398I|NBR1_ENST00000341165.6_Missense_Mutation_p.M398I	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	398					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		ACTGGAGGATGAAAAATACAG	0.443000													9	21					0	0	0.058154	0	0
KMT2C	58508	broad.mit.edu	37	7	151880184	151880184	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:151880184C>G	ENST00000355193.2	-	35	5358	c.5140G>C	c.(5140-5142)Gat>Cat	p.D1714H	KMT2C_ENST00000262189.6_Missense_Mutation_p.D1714H					lysine (K)-specific methyltransferase 2C																		TTCATGGAATCATTTGACATC	0.353000													162	215					0	0	0.139131	0	0
PSAPL1	768239	broad.mit.edu	37	4	7436007	7436007	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:7436007G>T	ENST00000319098.4	-	1	693	c.600C>A	c.(598-600)tcC>tcA	p.S200S	SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	200	Saposin B-type 2.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						AGGTCAAGTTGGACCGGACAG	0.607000													10	11					2.80697e-09	2.92566e-09	0.080935	1	0
PTAFR	5724	broad.mit.edu	37	1	28477482	28477482	+	Silent	SNP	G	G	C	rs143590918		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:28477482G>C	ENST00000373857.3	-	2	685	c.51C>G	c.(49-51)ctC>ctG	p.L17L	PTAFR_ENST00000305392.3_Silent_p.L17L|PTAFR_ENST00000539896.1_Silent_p.L17L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	17					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCGGGAAGAGAGTGTATC	0.527000													30	29					0	0	0.257332	0	0
TMEM139	135932	broad.mit.edu	37	7	142983919	142983919	+	Silent	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:142983919T>C	ENST00000359333.3	+	3	1161	c.648T>C	c.(646-648)ccT>ccC	p.P216P	TMEM139_ENST00000410004.1_Silent_p.P216P|TMEM139_ENST00000409244.1_Silent_p.P216P|TMEM139_ENST00000409102.1_Silent_p.P216P|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409541.1_Silent_p.P216P	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	216						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					GGGCACCCCCTTAAATGACTC	0.468000													3	164					0	0	0.115264	0	0
NPR2	4882	broad.mit.edu	37	9	35805555	35805555	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:35805555C>G	ENST00000342694.2	+	13	2190	c.1935C>G	c.(1933-1935)ctC>ctG	p.L645L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	645	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATGGGAGTCTCAAGTCCTCCA	0.488000													77	9					0	0	0.139131	0	0
EIF3L	51386	broad.mit.edu	37	22	38245481	38245481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:38245481G>A	ENST00000412331.2	+	1	607	c.25G>A	c.(25-27)Gag>Aag	p.E9K	EIF3L_ENST00000381683.6_Missense_Mutation_p.E9K|EIF3L_ENST00000476955.1_3'UTR	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	9						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGATGATTATGAGTCTGAGGT	0.647000													100	150					0	0	0.139131	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									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)		AAATGCACATCGCTGAAAGGG	0.383000													8	214					0	0	0.093190	0	0
KLK8	11202	broad.mit.edu	37	19	51503318	51503318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:51503318C>T	ENST00000600767.1	-	5	916	c.427G>A	c.(427-429)Gat>Aat	p.D143N	KLK8_ENST00000291726.7_Missense_Mutation_p.D143N|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.D188N			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	143	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GTGCAATGATCTGCCAGGCTG	0.587000													16	23					0	0	0.146539	0	0
GPN1	11321	broad.mit.edu	37	2	27858051	27858051	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:27858051G>A	ENST00000264718.3	+	7	537	c.516G>A	c.(514-516)tcG>tcA	p.S172S	GPN1_ENST00000458167.2_Silent_p.S63S|GPN1_ENST00000424214.1_Silent_p.S79S|GPN1_ENST00000515877.1_Silent_p.S79S|GPN1_ENST00000503738.1_Silent_p.S63S|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000610189.1_Silent_p.S158S|GPN1_ENST00000407583.3_Silent_p.S146S			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	158						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						TGGACACATCGAGAAGTACCA	0.443000													65	44					0	0	0.139131	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618708	77618708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:77618708G>A	ENST00000521891.2	+	2	2833	c.2385G>A	c.(2383-2385)atG>atA	p.M795I	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M795I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M795I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M795I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	795						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCATAATATGATGCTTTTGC	0.483000										HNSCC(33;0.089)			6	13					0	0	0.248553	0	0
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716000													15	19					0	0	0.175082	0	0
MX2	4600	broad.mit.edu	37	21	42752066	42752066	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:42752066G>C	ENST00000330714.3	+	4	749	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	189					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GGTGGAGAAAGAGATACACAA	0.577000													33	9					0	0	0.268233	0	0
ACP5	54	broad.mit.edu	37	19	11687649	11687649	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:11687649C>G	ENST00000592828.1	-	5	673	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	ACP5_ENST00000433365.2_Missense_Mutation_p.E91Q|ACP5_ENST00000218758.5_Missense_Mutation_p.E91Q|ACP5_ENST00000412435.2_Missense_Mutation_p.E91Q|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	91					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AATACGTCCTCAAAGGTCTCC	0.552000													54	48					0	0	0.139131	0	0
PAOX	196743	broad.mit.edu	37	10	135204914	135204914	+	Nonsense_Mutation	SNP	C	C	T	rs140094339		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:135204914C>T	ENST00000357296.3	+	6	1389	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	PAOX_ENST00000278060.5_Silent_p.L497L|PAOX_ENST00000480071.2_3'UTR|RP11-108K14.8_ENST00000468317.2_Nonsense_Mutation_p.Q37*|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR	NM_207128.1	NP_997011.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	592					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACCGCCTCCTCAGTCTGTGGG	0.662000													24	35					0	0	0.091800	0	0
HIVEP3	59269	broad.mit.edu	37	1	42041338	42041338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:42041338G>A	ENST00000372584.1	-	4	6098	c.5084C>T	c.(5083-5085)tCc>tTc	p.S1695F	HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1695F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1695F|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1695F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1695					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.S1695F(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCTTCCGGGGAAACCAGTGA	0.542000													39	37					0	0	0.131918	0	0
TMOD2	29767	broad.mit.edu	37	15	52090495	52090495	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:52090495G>A	ENST00000249700.4	+	8	1055	c.834G>A	c.(832-834)ctG>ctA	p.L278L	TMOD2_ENST00000539962.2_Silent_p.L234L|TMOD2_ENST00000435126.2_Silent_p.L242L	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	278					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TAGAGGCACTGAAAGAAAATG	0.453000													9	22					0	0	0.093190	0	0
NEB	4703	broad.mit.edu	37	2	152397312	152397312	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:152397312G>C	ENST00000397345.3	-	137	20888	c.20686C>G	c.(20686-20688)Ctg>Gtg	p.L6896V	NEB_ENST00000172853.10_Missense_Mutation_p.L5195V|NEB_ENST00000604864.1_Missense_Mutation_p.L6896V|NEB_ENST00000427231.2_Missense_Mutation_p.L6896V|NEB_ENST00000409198.1_Missense_Mutation_p.L5195V|NEB_ENST00000603639.1_Missense_Mutation_p.L6896V	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	5195					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAACATACAGATACTGAATA	0.418000													15	24					0	0	0.146539	0	0
IL31RA	133396	broad.mit.edu	37	5	55178999	55178999	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:55178999C>T	ENST00000396834.1	+	7	1021	c.525C>T	c.(523-525)ttC>ttT	p.F175F	IL31RA_ENST00000359040.5_Silent_p.F194F|IL31RA_ENST00000447346.2_Silent_p.F194F|IL31RA_ENST00000354961.4_Silent_p.F175F|IL31RA_ENST00000297015.3_Silent_p.F52F|IL31RA_ENST00000490985.1_Silent_p.F52F|IL31RA_ENST00000396836.2_Silent_p.F194F	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	162	Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CACTTCGATTCAGGACAGTCA	0.388000													31	13					0	0	0.235728	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646670	122646670	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:122646670G>T	ENST00000195173.4	-	8	1120	c.817C>A	c.(817-819)Cgc>Agc	p.R273S	SEMA5B_ENST00000357599.3_Missense_Mutation_p.R273S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R327S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	273	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGGCAGTGCGAAGCGGTGGC	0.627000													30	38					9.9191e-30	1.08188e-29	0.268233	1	0
FAM117A	81558	broad.mit.edu	37	17	47797711	47797711	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:47797711G>C	ENST00000240364.2	-	4	629	c.550C>G	c.(550-552)Cac>Gac	p.H184D	FAM117A_ENST00000513602.1_5'UTR|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	184										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CGCACTGCGTGGTCCCCTAGG	0.587000													50	99					0	0	0.139131	0	0
ACOT11	26027	broad.mit.edu	37	1	55058277	55058277	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:55058277G>C	ENST00000371316.3	+	4	452	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	ACOT11_ENST00000343744.2_Missense_Mutation_p.E124Q|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	124	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CTCCAGCATGGAGGTGTGTGG	0.597000													35	49					0	0	0.246493	0	0
ATP6V0E1	8992	broad.mit.edu	37	5	172410891	172410891	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:172410891C>G	ENST00000519374.1	+	1	132	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.L10V|ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.L10V|ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.L10V	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	10					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACTGTGCCTCTCATTGTGAT	0.617000													91	180					0	0	0.139131	0	0
NFIL3	4783	broad.mit.edu	37	9	94172288	94172288	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:94172288G>A	ENST00000297689.3	-	2	1123	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	243					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AGTTTTGATAGATGGACGCTG	0.488000													46	8					0	0	0.139131	0	0
CLCN4	1183	broad.mit.edu	37	X	10188910	10188910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:10188910C>T	ENST00000380833.4	+	12	2576	c.2185C>T	c.(2185-2187)Cgg>Tgg	p.R729W	CLCN4_ENST00000380829.1_Missense_Mutation_p.R698W|CLCN4_ENST00000421085.2_Missense_Mutation_p.R635W	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	729	CBS 2.					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGGTGACGCGGAGCGGGTG	0.567000													47	4					0	0	0.139131	0	0
AMACR	23600	broad.mit.edu	37	5	33997421	33997421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:33997421G>A	ENST00000382068.3	-	4	789	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	AMACR_ENST00000335606.6_Intron|AMACR_ENST00000502637.1_Intron|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000426255.2_3'UTR|AMACR_ENST00000512079.1_Intron|AMACR_ENST00000441713.2_Intron|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000382085.3_Intron			Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase				M -> I (in dbSNP:rs9282593).|M -> T (in dbSNP:rs3195678).		bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCAGCAGCCTGAGTGTAACAT	0.418000											OREG0016555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	45					0	0	0.139131	0	0
GK2	2712	broad.mit.edu	37	4	80328945	80328945	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:80328945A>T	ENST00000358842.3	-	1	427	c.410T>A	c.(409-411)gTc>gAc	p.V137D		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	137					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTAGACTTGACGAAGTTACT	0.428000													16	125					0	0	0.160694	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197163	26197163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:26197163C>T	ENST00000377831.5	-	2	769	c.316G>A	c.(316-318)Gag>Aag	p.E106K	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.E106K	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.E106Q(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TTGGTGTCCTCAAACAGCCCC	0.592000													61	67					0	0	0.139131	0	0
OGG1	4968	broad.mit.edu	37	3	9791955	9791955	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:9791955G>A	ENST00000302036.7	+	0	328				OGG1_ENST00000302003.7_De_novo_Start_InFrame|OGG1_ENST00000383826.5_De_novo_Start_InFrame|OGG1_ENST00000344629.7_De_novo_Start_InFrame|OGG1_ENST00000339511.5_De_novo_Start_InFrame|OGG1_ENST00000349503.5_De_novo_Start_InFrame|OGG1_ENST00000302008.8_De_novo_Start_InFrame|OGG1_ENST00000449570.2_De_novo_Start_InFrame|OGG1_ENST00000436092.1_3'UTR	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase						depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ACTACGGGGCGGTGCCTGCTG	0.682000								Base excision repair (BER), DNA glycosylases					18	29					0	0	0.264190	0	0
MRPS22	56945	broad.mit.edu	37	3	139062910	139062910	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:139062910G>C	ENST00000495075.1	+	3	474	c.42G>C	c.(40-42)ttG>ttC	p.L14F	MRPS22_ENST00000310776.4_Missense_Mutation_p.L14F|MRPS22_ENST00000465056.1_Missense_Mutation_p.L14F			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	14						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GGAGCCTCTTGAGGAGTTCTC	0.602000													20	30					0	0	0.091800	0	0
BGN	633	broad.mit.edu	37	X	152770154	152770154	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:152770154G>A	ENST00000331595.4	+	2	251	c.65G>A	c.(64-66)aGa>aAa	p.R22K	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	22						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGCAGAGAGGCTTCTGG	0.642000													39	1					0	0	0.117977	0	0
DOCK9	23348	broad.mit.edu	37	13	99538841	99538841	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:99538841C>G	ENST00000376460.1	-	19	2161	c.2081G>C	c.(2080-2082)aGa>aCa	p.R694T	DOCK9_ENST00000339416.2_Missense_Mutation_p.R695T|DOCK9_ENST00000442173.1_Missense_Mutation_p.R694T|DOCK9_ENST00000448493.2_Missense_Mutation_p.R706T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	695	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAGGCGCTTCTTGTGAAAAC	0.383000													13	15					0	0	0.189662	0	0
RAET1E	135250	broad.mit.edu	37	6	150209697	150209697	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:150209697G>A	ENST00000357183.4	-	4	861	c.729C>T	c.(727-729)ctC>ctT	p.L243L	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L207L|RAET1E_ENST00000532335.1_Intron	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	243					antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGACACAGATGAGAACAATTC	0.473000													34	71					0	0	0.268233	0	0
ERBB2	2064	broad.mit.edu	37	17	37879820	37879820	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:37879820G>A	ENST00000406381.2	+	20	2535	c.2025G>A	c.(2023-2025)gcG>gcA	p.A675A	ERBB2_ENST00000584450.1_Silent_p.A705A|ERBB2_ENST00000584601.1_Silent_p.A675A|ERBB2_ENST00000540147.1_Silent_p.A675A|ERBB2_ENST00000269571.5_Silent_p.A705A|ERBB2_ENST00000541774.1_Silent_p.A690A|ERBB2_ENST00000445658.2_Silent_p.A429A	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	705					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTAGCGGAGCGATGCCCAACC	0.652000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			6	8					0	0	0.038147	0	0
MUC16	94025	broad.mit.edu	37	19	9082528	9082528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9082528G>T	ENST00000397910.4	-	1	9490	c.9287C>A	c.(9286-9288)tCa>tAa	p.S3096*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3097	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCTGGCTTGAGGTTAACTC	0.478000													82	73					4.03479e-65	4.44007e-65	0.139131	1	0
RNF213	57674	broad.mit.edu	37	17	78237494	78237494	+	Missense_Mutation	SNP	C	C	T	rs142962817		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:78237494C>T	ENST00000582970.1	+	2	157	c.14C>T	c.(13-15)tCg>tTg	p.S5L	RNF213_ENST00000456466.1_Missense_Mutation_p.S5L|RNF213_ENST00000508628.2_Missense_Mutation_p.S5L|RNF213_ENST00000319921.4_Missense_Mutation_p.S5L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	5										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGTGTCCTTCGTGCCAGCAT	0.607000													41	54					0	0	0.139131	0	0
TDP1	55775	broad.mit.edu	37	14	90437609	90437609	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:90437609C>T	ENST00000357382.3	+	6	996	c.68C>T	c.(67-69)tCt>tTt	p.S23F	TDP1_ENST00000393452.3_Silent_p.L250L|TDP1_ENST00000555880.1_Silent_p.L250L|TDP1_ENST00000335725.4_Silent_p.L250L|TDP1_ENST00000393454.2_Silent_p.L250L|TDP1_ENST00000555565.1_3'UTR			Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	0					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACATCTCTCTCTGCCAGGTAA	0.498000								Repair of DNA-protein crosslinks					41	29					0	0	0.139131	0	0
ZMYM2	7750	broad.mit.edu	37	13	20608481	20608481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:20608481G>A	ENST00000382869.3	+	11	2307	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	ZMYM2_ENST00000382871.2_Missense_Mutation_p.E686K|ZMYM2_ENST00000382883.3_Missense_Mutation_p.E168K|ZMYM2_ENST00000382874.2_Missense_Mutation_p.E686K	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATACTGTCAAGAGGAGAAGAC	0.358000													30	53					0	0	0.173368	0	0
ZNF622	90441	broad.mit.edu	37	5	16453158	16453158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:16453158G>A	ENST00000308683.2	-	5	1396	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	424						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGTACTGCTGAAGTACTCGG	0.502000													18	39					0	0	0.234183	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396376	22396376	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:22396376C>G	ENST00000263160.3	+	9	1554	c.1117C>G	c.(1117-1119)Cta>Gta	p.L373V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	373					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCAGATTTTCTAAGAAGCAA	0.388000													84	103					0	0	0.139131	0	0
USP10	9100	broad.mit.edu	37	16	84778635	84778635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:84778635C>T	ENST00000219473.7	+	4	661	c.548C>T	c.(547-549)tCa>tTa	p.S183L	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.S187L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	183					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CATGCCAATTCAGCAGTCCCG	0.498000													35	38					0	0	0.139131	0	0
SMARCA4	6597	broad.mit.edu	37	19	11123777	11123777	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:11123777C>T	ENST00000358026.2	+	16	2711	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000429416.3_Silent_p.I809I|SMARCA4_ENST00000541122.2_Silent_p.I809I|SMARCA4_ENST00000450717.3_Silent_p.I809I|SMARCA4_ENST00000590574.1_Silent_p.I809I|SMARCA4_ENST00000413806.3_Silent_p.I809I|SMARCA4_ENST00000589677.1_Silent_p.I809I|SMARCA4_ENST00000444061.3_Silent_p.I809I|SMARCA4_ENST00000344626.4_Silent_p.I809I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	809	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCTCATCATCGTGCCTCTCT	0.567000			"""F, N, Mis"""		NSCLC								18	26					0	0	0.091800	0	0
TACC3	10460	broad.mit.edu	37	4	1737475	1737475	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1737475G>T	ENST00000313288.4	+	8	1768	c.1662G>T	c.(1660-1662)ttG>ttT	p.L554F		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	554						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGTCGGCCTTGAGGAAGCAGT	0.607000													740	418					1.79415e-318	1.97878e-318	0.139131	1	0
DHX37	57647	broad.mit.edu	37	12	125451375	125451375	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:125451375C>T	ENST00000308736.2	-	12	1652	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	DHX37_ENST00000544745.1_Silent_p.K305K	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	518	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCCTTGACTTCTTAAACTTCC	0.617000													34	58					0	0	0.131918	0	0
PAK7	57144	broad.mit.edu	37	20	9520184	9520184	+	Silent	SNP	G	G	A	rs141553527		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:9520184G>A	ENST00000378429.3	-	11	2631	c.2085C>T	c.(2083-2085)ctC>ctT	p.L695L	PAK7_ENST00000378423.1_Silent_p.L695L|PAK7_ENST00000353224.5_Silent_p.L695L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	695	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATGGATGTCCGAGGAGTTCCT	0.512000													87	137					0	0	0.139131	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95067591	95067591	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:95067591G>A	ENST00000379982.3	+	2	539	c.31G>A	c.(31-33)Gag>Aag	p.E11K	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.E11K	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	11	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGGGGAACGAGGGGGACAC	0.652000													18	42					0	0	0.108266	0	0
KIF15	56992	broad.mit.edu	37	3	44835802	44835802	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:44835802G>C	ENST00000326047.4	+	8	882	c.733G>C	c.(733-735)Gag>Cag	p.E245Q		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	245	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATTACAATAGAGTCAATGGA	0.428000													40	66					0	0	0.117977	0	0
RAET1E	135250	broad.mit.edu	37	6	150210554	150210554	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:150210554G>C	ENST00000532335.1	-	4	898	c.552C>G	c.(550-552)ctC>ctG	p.L184L	RAET1E_ENST00000529948.1_Silent_p.L184L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000357183.4_Silent_p.L184L|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L148L	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	184	MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CTCCCTTTGAGAGCTTCCTGA	0.493000													24	42					0	0	0.108266	0	0
NASP	4678	broad.mit.edu	37	1	46083736	46083736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:46083736G>A	ENST00000350030.3	+	15	2377	c.2290G>A	c.(2290-2292)Gag>Aag	p.E764K	NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Missense_Mutation_p.E425K|NASP_ENST00000372052.4_Missense_Mutation_p.E398K|NASP_ENST00000402363.3_Missense_Mutation_p.E766K|NASP_ENST00000537798.1_Missense_Mutation_p.E700K	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	764					blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CTTCCAGGCTGAGAATCAGGC	0.517000													5	7					0	0	0.038147	0	0
NOMO1	23420	broad.mit.edu	37	16	14969017	14969017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:14969017G>A	ENST00000287667.7	+	19	2350	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	727						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AAACGGCAATGAGGAAGGCGA	0.567000													78	169					0	0	0.139131	0	0
SEMA3F	6405	broad.mit.edu	37	3	50222226	50222226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:50222226G>A	ENST00000002829.3	+	13	1919	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	SEMA3F_ENST00000434342.1_Missense_Mutation_p.E448K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E380K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	479	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGGGCGCTATGAGGTGCTTTT	0.682000													15	16					0	0	0.175082	0	0
TENM4	26011	broad.mit.edu	37	11	78516497	78516497	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:78516497G>A	ENST00000278550.7	-	15	2481	c.2019C>T	c.(2017-2019)tgC>tgT	p.C673C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CGCCTCTCACGCAGACACCCC	0.582000													4	12					0	0	0.217242	0	0
ZNF200	7752	broad.mit.edu	37	16	3274554	3274554	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:3274554C>G	ENST00000431561.3	-	5	1138	c.526G>C	c.(526-528)Gat>Cat	p.D176H	ZNF200_ENST00000414144.2_Missense_Mutation_p.D176H|ZNF200_ENST00000396871.4_Missense_Mutation_p.D175H|ZNF200_ENST00000396870.4_Missense_Mutation_p.D175H|ZNF200_ENST00000396868.3_Missense_Mutation_p.D175H|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Missense_Mutation_p.D175H	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TCTCTATAATCTTCATTTTCT	0.398000													3	41					0	0	0.115264	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914896	94914896	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:94914896G>A	ENST00000334708.3	-	2	280	c.216C>T	c.(214-216)aaC>aaT	p.N72N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	72					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AGAAGAAGATGTTTCCGGGGG	0.567000													82	107					0	0	0.139131	0	0
ZAN	7455	broad.mit.edu	37	7	100334701	100334701	+	RNA	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100334701C>T	ENST00000542585.1	+	0	671				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTGCCCACCCGGGTAAGGCC	0.657000													9	0					0	0	0.093190	0	0
CHERP	10523	broad.mit.edu	37	19	16631645	16631645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:16631645C>G	ENST00000546361.2	-	13	2344	c.2193G>C	c.(2191-2193)aaG>aaC	p.K731N	CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.K742N	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	731	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ACCTGTTCCTCTTCTCCTGGC	0.592000													36	47					0	0	0.117977	0	0
NGLY1	55768	broad.mit.edu	37	3	25805630	25805630	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:25805630G>C	ENST00000428257.1	-	3	526	c.419C>G	c.(418-420)tCa>tGa	p.S140*	NGLY1_ENST00000422724.2_Nonsense_Mutation_p.S63*|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.S140*|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.S98*|NGLY1_ENST00000280700.5_Nonsense_Mutation_p.S140*	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	140					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ACTGGGATTTGAAGATGGTGT	0.448000													47	55					0	0	0.139131	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155921970	155921970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:155921970G>A	ENST00000462460.2	-	20	2430	c.2176C>T	c.(2176-2178)Cga>Tga	p.R726*	ARHGEF2_ENST00000368315.4_Nonsense_Mutation_p.R682*|ARHGEF2_ENST00000361247.4_Nonsense_Mutation_p.R681*|ARHGEF2_ENST00000313667.4_Nonsense_Mutation_p.R680*|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Nonsense_Mutation_p.R653*|ARHGEF2_ENST00000313695.7_Nonsense_Mutation_p.R653*			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTGGCTCTCGGGGTGTCAAG	0.602000													8	63					0	0	0.047766	0	0
RTF1	23168	broad.mit.edu	37	15	41763545	41763545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:41763545C>T	ENST00000389629.4	+	8	1213	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	401	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACCAGTTTACCGGGTTGGTAT	0.443000													27	31					0	0	0.125774	0	0
FGGY	55277	broad.mit.edu	37	1	60139745	60139745	+	Silent	SNP	C	C	G	rs114601020	by1000genomes	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:60139745C>G	ENST00000371218.4	+	15	1708	c.1524C>G	c.(1522-1524)tcC>tcG	p.S508S	FGGY_ENST00000371210.1_Silent_p.S185S|FGGY_ENST00000303721.7_Silent_p.S484S|FGGY_ENST00000371212.1_Silent_p.S396S	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	484					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGGTGGAGTCCGTTCTTGTGG	0.612000													15	28					0	0	0.219247	0	0
TBC1D4	9882	broad.mit.edu	37	13	75933988	75933988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:75933988G>A	ENST00000377636.3	-	3	1433	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*	TBC1D4_ENST00000377625.2_Nonsense_Mutation_p.R363*|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Nonsense_Mutation_p.R363*	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	363	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATCTCAAATCGCCCAACCTTA	0.274000													11	38					0	0	0.080935	0	0
ZBTB41	360023	broad.mit.edu	37	1	197169253	197169253	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:197169253C>G	ENST00000367405.4	-	1	419	c.351G>C	c.(349-351)ttG>ttC	p.L117F	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	117	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GATTTTTGCTCAAACACGCAT	0.358000													60	26					0	0	0.139131	0	0
UBBP4	23666	broad.mit.edu	37	17	21730744	21730744	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:21730744G>A	ENST00000584755.1	+	2	443	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	UBBP4_ENST00000578713.1_Missense_Mutation_p.E16K|UBBP4_ENST00000584398.1_Missense_Mutation_p.E16K|UBBP4_ENST00000583708.1_Missense_Mutation_p.E16K																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CATCACCCTTGAAGTGGAGCC	0.438000													4	5					0	0	0.217242	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950948	30950948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:30950948G>A	ENST00000402321.1	-	3	1581	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R422W|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R422W|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R422W|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R422W|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R422W|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R422W			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	422				R -> E (in Ref. 1; AA sequence).	protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGTCACCACCGCAGGAAATCG	0.687000													3	22					0	0	0.150653	0	0
MED12	9968	broad.mit.edu	37	X	70360617	70360617	+	Silent	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:70360617A>G	ENST00000333646.6	+	42	6385	c.6186A>G	c.(6184-6186)caA>caG	p.Q2062Q	MED12_ENST00000374080.3_Silent_p.Q2059Q|MED12_ENST00000374102.1_Silent_p.Q2058Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2059	Gln-rich.				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			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)					aacagcagcaacagcaacagc	0.592000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						9	22					0	0	0.132662	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30906540	30906540	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:30906540G>A	ENST00000251071.5	-	1	908	c.158C>T	c.(157-159)tCa>tTa	p.S53L	CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.S53L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.S53L|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.S53L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	53					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGAAACAGATGAGGCTGAAGG	0.463000											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	50					0	0	0.139131	0	0
SIN3A	25942	broad.mit.edu	37	15	75676654	75676654	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75676654G>T	ENST00000394947.3	-	17	3460	c.3146C>A	c.(3145-3147)aCg>aAg	p.T1049K	SIN3A_ENST00000360439.4_Missense_Mutation_p.T1049K|SIN3A_ENST00000394949.4_Missense_Mutation_p.T1049K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1049					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CCGCTGATACGTTGACTCCAG	0.493000													8	144					4.1943e-16	4.44686e-16	0.069234	1	0
TEX26	122046	broad.mit.edu	37	13	31506889	31506889	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:31506889C>T	ENST00000380473.3	+	1	50	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	TEX26-AS1_ENST00000587596.1_RNA|TEX26-AS1_ENST00000591131.1_RNA|TEX26-AS1_ENST00000591300.1_RNA	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	13																	GGATCCCTCTCTCTGCCACCA	0.672000													15	22					0	0	0.189662	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556270	45556270	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:45556270C>T	ENST00000588982.1	-	4	1722	c.1221G>A	c.(1219-1221)ctG>ctA	p.L407L	ZBTB7C_ENST00000590800.1_Silent_p.L407L|ZBTB7C_ENST00000535628.2_Silent_p.L407L|ZBTB7C_ENST00000332053.2_Silent_p.L407L|ZBTB7C_ENST00000586438.1_Silent_p.L407L			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	407						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGTGGATTTTCAGCTTGTCCT	0.577000													14	40					0	0	0.119110	0	0
TAAR5	9038	broad.mit.edu	37	6	132909813	132909813	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:132909813C>G	ENST00000258034.2	-	1	1064	c.1013G>C	c.(1012-1014)tGa>tCa	p.*338S		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	0					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TAGAAGGAATCATTCTTGGTA	0.488000													32	27					0	0	0.111260	0	0
NHEJ1	79840	broad.mit.edu	37	2	220022246	220022246	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220022246G>C	ENST00000356853.5	-	3	471	c.338C>G	c.(337-339)tCt>tGt	p.S113C	NHEJ1_ENST00000409720.1_Missense_Mutation_p.S113C	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	113					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		GGGGAGGCCAGAGAGCTCACT	0.527000								Non-homologous end-joining					32	33					0	0	0.225048	0	0
MPPED1	758	broad.mit.edu	37	22	43870629	43870629	+	Silent	SNP	C	C	T	rs139800936	by1000genomes	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:43870629C>T	ENST00000417669.2	+	4	864	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582000													4	171					0	0	0.150653	0	0
COL6A1	1291	broad.mit.edu	37	21	47419594	47419594	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:47419594G>A	ENST00000361866.3	+	27	1878	c.1764G>A	c.(1762-1764)ccG>ccA	p.P588P		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	588	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ACCAAGGACCGCCTGGGCCGG	0.632000													17	17					0	0	0.219247	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968350	64968350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:64968350G>A	ENST00000399262.2	-	10	3297	c.3079C>T	c.(3079-3081)Caa>Taa	p.Q1027*	JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q845*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q808*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q808*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1027					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATACTTTCTTGAAGAATTCGA	0.418000													30	72					0	0	0.144211	0	0
MOCS3	27304	broad.mit.edu	37	20	49576100	49576100	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:49576100G>A	ENST00000244051.1	+	1	738	c.721G>A	c.(721-723)Gac>Aac	p.D241N		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	241					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CAACTGCGCGGACGGCGGGGT	0.622000													64	173					0	0	0.139131	0	0
NFKBIE	4794	broad.mit.edu	37	6	44233256	44233256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233256C>T	ENST00000275015.5	-	1	244	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	82					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGACAAGGTTCGGAGCGCTGG	0.761000													3	5					0	0	0.150653	0	0
MOGAT3	346606	broad.mit.edu	37	7	100843571	100843571	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100843571C>T	ENST00000223114.4	-	3	398	c.232G>A	c.(232-234)Gag>Aag	p.E78K	MOGAT3_ENST00000379423.3_Missense_Mutation_p.E78K|MOGAT3_ENST00000440203.2_Missense_Mutation_p.E78K	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	78					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CTTATCCACTCCGAACGCCTT	0.562000													81	128					0	0	0.139131	0	0
ZFR2	23217	broad.mit.edu	37	19	3816707	3816707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3816707G>A	ENST00000262961.4	-	13	2078	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	690						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCGATCCTCCGCAGCAGGCTG	0.687000													3	35					0	0	0.150653	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111929934	111929934	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:111929934G>A	ENST00000375741.2	+	14	1733	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	ARHGEF7_ENST00000375737.5_Splice_Site_p.E392K|ARHGEF7_ENST00000375739.2_Splice_Site_p.E445K|ARHGEF7_ENST00000426073.2_Splice_Site_p.E317K|ARHGEF7_ENST00000375723.1_Splice_Site_p.E317K|ARHGEF7_ENST00000370623.3_Splice_Site_p.E402K|ARHGEF7_ENST00000317133.5_Splice_Site_p.E474K|ARHGEF7_ENST00000544132.1_Splice_Site_p.E151K|ARHGEF7_ENST00000375736.4_Splice_Site_p.E317K|ARHGEF7_ENST00000478679.1_Splice_Site_p.E239K|ARHGEF7_ENST00000218789.5_Splice_Site_p.E317K	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	495	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTTGTATTAGGAAAAGAATGA	0.313000													9	19					0	0	0.069234	0	0
TNS3	64759	broad.mit.edu	37	7	47454805	47454805	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:47454805C>T	ENST00000398879.1	-	11	840		c.e11-1		TNS3_ENST00000442536.2_Splice_Site|TNS3_ENST00000458317.2_Splice_Site|TNS3_ENST00000355730.3_Splice_Site|TNS3_ENST00000311160.9_Splice_Site			Q68CZ2	TENS3_HUMAN	tensin 3							focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTGAACATACCTGCAAAACGG	0.537000													13	16					0	0	0.132662	0	0
ZNF852	285346	broad.mit.edu	37	3	44541938	44541938	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:44541938C>T	ENST00000436261.1	-	4	491	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	111					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						AAATCACTTTCTAGTCTGCTC	0.408000													7	16					0	0	0.038147	0	0
PBLD	64081	broad.mit.edu	37	10	70044041	70044041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:70044041G>A	ENST00000358769.2	-	10	962	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	PBLD_ENST00000336578.1_Nonsense_Mutation_p.Q221*|PBLD_ENST00000309049.4_Nonsense_Mutation_p.Q254*	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	254					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGGAACACTGAAAAGCTAAA	0.423000													18	31					0	0	0.175082	0	0
COG1	9382	broad.mit.edu	37	17	71197795	71197795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:71197795C>T	ENST00000299886.4	+	7	1909	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	610					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGCTGCACTCAGTTCTTTTC	0.552000													20	27					0	0	0.219247	0	0
CHTF18	63922	broad.mit.edu	37	16	847068	847068	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:847068G>C	ENST00000317063.6	+	22	3336	c.3336G>C	c.(3334-3336)atG>atC	p.M1112I	CHTF18_ENST00000262315.9_Missense_Mutation_p.M903I|CHTF18_ENST00000455171.2_Missense_Mutation_p.M931I			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	903					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				AGCACATCATGAGGCGAGCGG	0.672000													43	48					0	0	0.139131	0	0
SPTAN1	6709	broad.mit.edu	37	9	131342008	131342008	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:131342008G>A	ENST00000358161.5	+	10	1427	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	SPTAN1_ENST00000372739.3_Silent_p.V438V|SPTAN1_ENST00000372731.4_Silent_p.V438V			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	438					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAGATGAAGTGAGGGAGAAGG	0.428000													15	1					0	0	0.160694	0	0
CHD3	1107	broad.mit.edu	37	17	7797534	7797534	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:7797534C>T	ENST00000380358.4	+	7	1204	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	CHD3_ENST00000330494.7_Silent_p.V342V|CHD3_ENST00000358181.4_Silent_p.V342V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	342					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGGCCCTGTCCGCACCAAGA	0.557000													20	4					0	0	0.189662	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86090557	86090557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:86090557G>A	ENST00000377332.3	-	2	242	c.134C>T	c.(133-135)cCt>cTt	p.P45L	ST3GAL5_ENST00000393808.3_Missense_Mutation_p.P22L|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.P45L|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.P17L|ST3GAL5_ENST00000484728.1_5'UTR	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	45					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TTGCAGGGAAGGCCTCGAGCA	0.498000													15	52					0	0	0.146539	0	0
OR10G8	219869	broad.mit.edu	37	11	123900527	123900527	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:123900527C>T	ENST00000431524.1	+	1	231	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACCTGTCGTTCATTGACATGT	0.542000													48	101					0	0	0.139131	0	0
MEPCE	56257	broad.mit.edu	37	7	100028615	100028615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100028615G>A	ENST00000310512.2	+	1	1362	c.974G>A	c.(973-975)aGg>aAg	p.R325K	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	325							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCAACTGCAGGGATGAAGTG	0.627000													78	110					0	0	0.139131	0	0
DENND5B	160518	broad.mit.edu	37	12	31540637	31540637	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540637C>G	ENST00000389082.5	-	21	3989	c.3725G>C	c.(3724-3726)cGa>cCa	p.R1242P	DENND5B_ENST00000536562.1_Missense_Mutation_p.R1277P|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1277P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1242	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CATGCGGTCTCGCAGGAGAGC	0.498000													22	28					0	0	0.116897	0	0
SPEN	23013	broad.mit.edu	37	1	16261448	16261448	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:16261448G>A	ENST00000375759.3	+	11	8917	c.8713G>A	c.(8713-8715)Gat>Aat	p.D2905N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2905					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGTGAAGGCCGATAGGCCATC	0.577000													18	19					0	0	0.249174	0	0
SNHG14	104472715	broad.mit.edu	37	15	25470278	25470278	+	RNA	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:25470278C>A	ENST00000453082.2	+	0	1046					NR_003343.1																						ACCCTGGTCTCCTGCACTGAG	0.562000													28	20					6.32553e-13	6.66343e-13	0.099896	1	0
SMC5	23137	broad.mit.edu	37	9	72879297	72879297	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:72879297G>C	ENST00000361138.5	+	2	321	c.263G>C	c.(262-264)aGc>aCc	p.S88T		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	88					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GGGAAGTCGAGCATTGTGTGT	0.373000													14	34					0	0	0.204396	0	0
BMPR2	659	broad.mit.edu	37	2	203397422	203397422	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:203397422G>C	ENST00000374580.4	+	9	1782	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E415Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	415	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATCTATTGGGAGATATTTAT	0.373000													23	19					0	0	0.125774	0	0
SLC35C2	51006	broad.mit.edu	37	20	44984459	44984459	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:44984459G>T	ENST00000372227.1	-	5	930	c.390C>A	c.(388-390)atC>atA	p.I130I	SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000243896.2_Silent_p.I130I|SLC35C2_ENST00000543605.1_Silent_p.I159I|SLC35C2_ENST00000317734.8_Silent_p.I130I|SLC35C2_ENST00000372230.5_Silent_p.I130I	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	130					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CCAGCTTGAAGATCAGAGAGA	0.517000													45	123					2.29192e-23	2.47246e-23	0.139131	1	0
SPTBN1	6711	broad.mit.edu	37	2	54882218	54882218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:54882218C>G	ENST00000333896.5	+	27	6180	c.5795C>G	c.(5794-5796)tCt>tGt	p.S1932C	SPTBN1_ENST00000356805.4_Missense_Mutation_p.S1945C	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1945	Interaction with ANK2.				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)			GATGTATCATCTGTTGAACTC	0.348000													10	11					0	0	0.069234	0	0
STK11IP	114790	broad.mit.edu	37	2	220470931	220470931	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220470931G>C	ENST00000456909.1	+	10	954	c.864G>C	c.(862-864)ggG>ggC	p.G288G	STK11IP_ENST00000295641.10_Silent_p.G299G			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	299					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGGAGGGGAACCCTCTTT	0.632000											OREG0003992	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2	6					0	0	0.115264	0	0
PTAFR	5724	broad.mit.edu	37	1	28476921	28476921	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:28476921G>T	ENST00000373857.3	-	2	1246	c.612C>A	c.(610-612)ttC>ttA	p.F204L	PTAFR_ENST00000305392.3_Missense_Mutation_p.F204L|PTAFR_ENST00000539896.1_Missense_Mutation_p.F204L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	204					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTTGCAGAAGAGGATGA	0.567000													15	13					2.32078e-09	2.42404e-09	0.132662	1	0
ZNF846	162993	broad.mit.edu	37	19	9868234	9868234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9868234C>A	ENST00000397902.2	-	6	1932	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTCTTACATTCATATGGTTTT	0.393000													42	81					3.39706e-21	3.65666e-21	0.139131	1	0
ABCC3	8714	broad.mit.edu	37	17	48750918	48750918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48750918G>A	ENST00000285238.8	+	19	2578	c.2498G>A	c.(2497-2499)gGc>gAc	p.G833D		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	833	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCTGAGATGGGCCCGTACCCA	0.602000													27	120					0	0	0.125774	0	0
WIPI1	55062	broad.mit.edu	37	17	66430741	66430741	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:66430741G>A	ENST00000262139.5	-	7	647	c.648C>T	c.(646-648)gtC>gtT	p.V216V	WIPI1_ENST00000546360.1_Silent_p.V134V|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	216					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GCCCATCAGGGACAGAGAACA	0.488000													24	36					0	0	0.144211	0	0
DNMT1	1786	broad.mit.edu	37	19	10266565	10266565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:10266565C>T	ENST00000340748.4	-	18	1643	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	DNMT1_ENST00000540357.1_Missense_Mutation_p.D470N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D486N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	470	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCACCTCCATCAAAGCCAGTG	0.502000													10	16					0	0	0.105934	0	0
KDM6A	7403	broad.mit.edu	37	X	44894182	44894182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:44894182C>T	ENST00000377967.4	+	7	612	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q191*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q191*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q191*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	191					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCAGCATTTTCAGTTAGCTTT	0.343000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								49	2					0	0	0.139131	0	0
KLHL6	89857	broad.mit.edu	37	3	183273151	183273151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:183273151G>T	ENST00000341319.3	-	1	326	c.291C>A	c.(289-291)ttC>ttA	p.F97L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	97	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGCTGACCTGAAATAGTTGC	0.502000													43	72					2.01807e-28	2.19627e-28	0.139131	1	0
OR5L2	26338	broad.mit.edu	37	11	55594854	55594854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:55594854C>T	ENST00000378397.1	+	1	160	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R54G(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GGTCAGCTCTCGGCTCCACAC	0.473000										HNSCC(27;0.073)			144	59					0	0	0.139131	0	0
RYR2	6262	broad.mit.edu	37	1	237806719	237806719	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:237806719C>T	ENST00000366574.2	+	48	7631	c.7314C>T	c.(7312-7314)atC>atT	p.I2438I	RYR2_ENST00000360064.6_Silent_p.I2436I|RYR2_ENST00000542537.1_Silent_p.I2422I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2438	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I2436M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTATCAGCATCGCTTTTCAGA	0.438000													42	34					0	0	0.124865	0	0
FNBP4	23360	broad.mit.edu	37	11	47767859	47767859	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:47767859C>G	ENST00000263773.5	-	7	1006	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	332										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTTATTCCCTCAGGCAATAAA	0.398000													13	14					0	0	0.105934	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453585	22453585	+	RNA	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:22453585G>C	ENST00000390283.2	+	0	377																											TGATGAATCTGATTATTACTG	0.468000													38	50					0	0	0.139131	0	0
KIAA0141	9812	broad.mit.edu	37	5	141314121	141314121	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:141314121G>A	ENST00000432126.2	+	10	1253	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	KIAA0141_ENST00000194118.4_Silent_p.V373V	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	373					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGAGCTGTGAAATATCTTT	0.507000													65	31					0	0	0.139131	0	0
PAPOLA	10914	broad.mit.edu	37	14	96991650	96991650	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:96991650C>G	ENST00000216277.8	+	4	473	c.253C>G	c.(253-255)Ctt>Gtt	p.L85V	PAPOLA_ENST00000554130.1_Intron|PAPOLA_ENST00000557471.1_Missense_Mutation_p.L85V|PAPOLA_ENST00000392990.2_Missense_Mutation_p.L85V|PAPOLA_ENST00000557320.1_Missense_Mutation_p.L85V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	85					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCAACAGAATCTTCCACAATC	0.333000													15	31					0	0	0.219247	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133814	21133814	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:21133814G>C	ENST00000215727.5	+	2	497	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.E72Q	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	72	Chemotactic activity.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGATTCCAGAGGGGGAGGA	0.517000													23	42					0	0	0.125774	0	0
GDPD1	284161	broad.mit.edu	37	17	57335175	57335175	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:57335175G>C	ENST00000284116.4	+	6	687	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	GDPD1_ENST00000581140.1_Missense_Mutation_p.E184Q|GDPD1_ENST00000581276.1_Missense_Mutation_p.E184Q	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	184	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGCCAATTATGAAATTGTAGA	0.323000													40	54					0	0	0.139131	0	0
ESPNP	284729	broad.mit.edu	37	1	17046617	17046617	+	RNA	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:17046617C>T	ENST00000492551.1	-	0	35					NR_026567.1																						AGCGGGCAGTCAGATGCAAGA	0.622000													6	144					0	0	0.047766	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806821	15806821	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:15806821C>T	ENST00000550308.1	+	10	1571	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	CYP4F12_ENST00000324632.10_Silent_p.F397F	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CAGCTCCCTTCATCTCCCGAT	0.617000													48	64					0	0	0.139131	0	0
TMEM231	79583	broad.mit.edu	37	16	75579280	75579280	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:75579280C>T	ENST00000568377.1	-	3	677	c.639G>A	c.(637-639)ctG>ctA	p.L213L	TMEM231_ENST00000258173.6_Silent_p.L184L|TMEM231_ENST00000569294.1_5'UTR|TMEM231_ENST00000565067.1_Intron|RP11-77K12.7_ENST00000460606.1_Silent_p.*16*|RP11-77K12.8_ENST00000564489.1_RNA	NM_001077416.1	NP_001070884	Q9H6L2	TM231_HUMAN	transmembrane protein 231							integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CACCACAGCTCAGCGGCTGCT	0.517000													46	72					0	0	0.139131	0	0
DBF4	10926	broad.mit.edu	37	7	87529618	87529618	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:87529618G>A	ENST00000265728.1	+	9	1267	c.763G>A	c.(763-765)Gta>Ata	p.V255I		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	255					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TCCATTTGATGTAGACAAGCC	0.323000													26	28					0	0	0.153744	0	0
AKAP9	10142	broad.mit.edu	37	7	91736731	91736731	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:91736731G>C	ENST00000359028.2	+	48	11778	c.11553G>C	c.(11551-11553)caG>caC	p.Q3851H	AKAP9_ENST00000358100.2_Missense_Mutation_p.Q3797H|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q3847H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3851					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACCATTTCAGAATAGGTAAG	0.363000			T	BRAF	papillary thyroid								24	19					0	0	0.134883	0	0
RNF11	26994	broad.mit.edu	37	1	51736896	51736896	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:51736896C>T	ENST00000242719.3	+	3	853	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						CATCTATCACCTGGACTGTAT	0.473000													27	168					0	0	0.173368	0	0
ASAP1	50807	broad.mit.edu	37	8	131138243	131138243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:131138243G>A	ENST00000357668.1	-	16	1501	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	ASAP1_ENST00000518721.1_Nonsense_Mutation_p.Q492*			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	492	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCCAAAGACTGAATGCGAGAA	0.383000													33	48					0	0	0.214465	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95067677	95067677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:95067677G>C	ENST00000379982.3	+	2	625	c.117G>C	c.(115-117)gaG>gaC	p.E39D	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.E39D	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	39	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CCGGGGACGAGAGCAGCTTGT	0.637000													18	42					0	0	0.234183	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807291	15807291	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:15807291C>G	ENST00000550308.1	+	12	1746	c.1366C>G	c.(1366-1368)Ctg>Gtg	p.L456V	CYP4F12_ENST00000324632.10_Missense_Mutation_p.L456V	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GAGGTCACCTCTGGCTTTTAT	0.557000													63	99					0	0	0.139131	0	0
GGNBP2	79893	broad.mit.edu	37	17	34910697	34910697	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34910697G>A	ENST00000304718.4	+	3	446	c.130G>A	c.(130-132)Gat>Aat	p.D44N		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	44					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTTAAATCTCGATGGACATCA	0.348000													69	94					0	0	0.139131	0	0
ZNF320	162967	broad.mit.edu	37	19	53384365	53384365	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:53384365G>A	ENST00000595635.1	-	8	1515	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Silent_p.F338F|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATTTGCGACTGAAAACTTTGT	0.423000													36	36					0	0	0.225048	0	0
SPIB	6689	broad.mit.edu	37	19	50926888	50926888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:50926888G>A	ENST00000599632.1	+	9	769	c.769G>A	c.(769-771)Gta>Ata	p.V257I	SPIB_ENST00000595883.1_Silent_p.P122P|SPIB_ENST00000596074.1_Missense_Mutation_p.V51I|SPIB_ENST00000597855.1_Intron|SPIB_ENST00000439922.2_Silent_p.P31P|SPIB_ENST00000270632.7_Silent_p.P122P						0																	CATATGCCCCGTACCCCAGCC	0.647000													22	29					0	0	0.144211	0	0
HINFP	25988	broad.mit.edu	37	11	119003647	119003647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:119003647G>T	ENST00000350777.2	+	8	1012	c.949G>T	c.(949-951)Gag>Tag	p.E317*	HINFP_ENST00000527410.1_Nonsense_Mutation_p.E317*	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	317					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGTGATTTTGAGAACTGCAC	0.517000													19	42					1.00905e-13	1.06751e-13	0.204396	1	0
OTOP1	133060	broad.mit.edu	37	4	4199404	4199404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:4199404G>A	ENST00000296358.4	-	5	1181	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	386					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTTTGCGGGCCGGATTTTT	0.592000													31	39					0	0	0.225048	0	0
ZNF649	65251	broad.mit.edu	37	19	52394736	52394736	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:52394736T>C	ENST00000354957.3	-	5	937	c.653A>G	c.(652-654)aAg>aGg	p.K218R	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Splice_Site_p.K218R	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACTTCTTGTAGAA	0.483000													3	60					0	0	0.115264	0	0
TMBIM4	51643	broad.mit.edu	37	12	66531814	66531814	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:66531814T>C	ENST00000358230.3	-	7	763	c.643A>G	c.(643-645)Atc>Gtc	p.I215V	TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.I262V|TMBIM4_ENST00000542724.1_Missense_Mutation_p.I184V|TMBIM4_ENST00000544599.1_Missense_Mutation_p.I38V	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	215						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TAGAGGCTGATGGCAGCTAAT	0.418000													35	80					0	0	0.139131	0	0
RBM19	9904	broad.mit.edu	37	12	114392942	114392942	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:114392942G>A	ENST00000545145.2	-	7	993	c.915C>T	c.(913-915)gtC>gtT	p.V305V	RBM19_ENST00000392561.3_Silent_p.V305V|RBM19_ENST00000261741.5_Silent_p.V305V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	305	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ATACCTCTGTGACATTGAACG	0.572000													4	155					0	0	0.217242	0	0
MKKS	8195	broad.mit.edu	37	20	10389350	10389350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:10389350G>A	ENST00000347364.3	-	4	1849	c.1087C>T	c.(1087-1089)Ctt>Ttt	p.L363F	MKKS_ENST00000399054.2_Missense_Mutation_p.L363F	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome		Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTAGGAATAAGATGAAAAAAA	0.398000													23	32					0	0	0.264190	0	0
PAN2	9924	broad.mit.edu	37	12	56717846	56717846	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56717846G>C	ENST00000425394.2	-	13	2428	c.2052C>G	c.(2050-2052)ctC>ctG	p.L684L	PAN2_ENST00000257931.5_Silent_p.L683L|PAN2_ENST00000548043.1_Silent_p.L684L|PAN2_ENST00000440411.3_Silent_p.L684L	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	684					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAGGGTAGGAGAGTGTGAAAA	0.532000													99	80					0	0	0.139131	0	0
ARVCF	421	broad.mit.edu	37	22	19961739	19961739	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:19961739C>T	ENST00000263207.3	-	12	2275	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K	ARVCF_ENST00000406522.1_Missense_Mutation_p.E593K|ARVCF_ENST00000406259.1_Missense_Mutation_p.E656K|ARVCF_ENST00000401994.1_Missense_Mutation_p.E599K|ARVCF_ENST00000344269.3_Missense_Mutation_p.E599K	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	662					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGTACCACCTCGGGCTGGTAC	0.632000													15	16					0	0	0.175082	0	0
USP34	9736	broad.mit.edu	37	2	61575533	61575533	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:61575533C>G	ENST00000398571.2	-	15	1833	c.1757G>C	c.(1756-1758)aGt>aCt	p.S586T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	586					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGATCCATCACTATGCCCACT	0.483000													3	196					0	0	0.150653	0	0
PROCA1	147011	broad.mit.edu	37	17	27038664	27038664	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:27038664C>T	ENST00000301039.2	-	1	208	c.15G>A	c.(13-15)acG>acA	p.T5T	PROCA1_ENST00000581289.1_Silent_p.T5T	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	5					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TTGTGAGCGTCGTCCTGACCC	0.637000													37	39					0	0	0.225048	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671645	112671645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:112671645C>G	ENST00000441065.2	+	3	1047	c.735C>G	c.(733-735)ttC>ttG	p.F245L		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	245	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GTCCATTCTTCTGTCTTGAGC	0.438000													28	19					0	0	0.193644	0	0
NLRP12	91662	broad.mit.edu	37	19	54313767	54313767	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:54313767C>T	ENST00000324134.6	-	3	1314	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E	NLRP12_ENST00000535162.1_Silent_p.E382E|NLRP12_ENST00000351894.4_Silent_p.E382E|NLRP12_ENST00000391772.1_Silent_p.E382E|NLRP12_ENST00000391773.1_Silent_p.E382E|NLRP12_ENST00000354278.3_Silent_p.E382E|NLRP12_ENST00000391775.3_Silent_p.E382E|NLRP12_ENST00000345770.5_Silent_p.E382E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	382	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCCCGCCTGCTCTGCATTGT	0.562000													104	184					0	0	0.139131	0	0
NSFL1C	55968	broad.mit.edu	37	20	1433191	1433191	+	Silent	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:1433191C>A	ENST00000216879.4	-	7	1599	c.732G>T	c.(730-732)gtG>gtT	p.V244V	NSFL1C_ENST00000381658.4_Silent_p.V133V|NSFL1C_ENST00000350991.4_Silent_p.V246V|NSFL1C_ENST00000476071.1_Silent_p.V246V|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Silent_p.V213V	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	244	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CTTTGGGCTTCACAAAGTCCT	0.567000													79	84					2.1089e-46	2.31557e-46	0.139131	1	0
PPL	5493	broad.mit.edu	37	16	4938143	4938143	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:4938143C>T	ENST00000345988.2	-	20	2563	c.2474G>A	c.(2473-2475)aGa>aAa	p.R825K	PPL_ENST00000590782.2_Missense_Mutation_p.R823K	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	825					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAGCCTGGCTCTCTTGCTCAC	0.562000													41	41					0	0	0.139131	0	0
ROBO2	6092	broad.mit.edu	37	3	77623749	77623749	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:77623749G>T	ENST00000461745.1	+	14	2971	c.2071G>T	c.(2071-2073)Gtc>Ttc	p.V691F	ROBO2_ENST00000332191.8_Missense_Mutation_p.V691F|ROBO2_ENST00000487694.3_Missense_Mutation_p.V707F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	691	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATGCCAAAGTCCCGACTGA	0.458000													3	92					0.004672	0.00476873	0.115264	1	0
FOXK2	3607	broad.mit.edu	37	17	80478010	80478010	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:80478010C>T	ENST00000335255.5	+	1	420	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	82	FHA.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACCTCGAGATCTTCAcgcccc	0.731000													27	20					0	0	0.163468	0	0
CAAP1	79886	broad.mit.edu	37	9	26884835	26884835	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:26884835G>A	ENST00000333916.5	-	4	726	c.638C>T	c.(637-639)tCt>tTt	p.S213F	CAAP1_ENST00000520187.1_Intron|CAAP1_ENST00000535437.1_Missense_Mutation_p.S68F|CAAP1_ENST00000495958.1_5'UTR	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	213																	TCCCATCTTAGAACCATCATC	0.294000													74	11					0	0	0.139131	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665898	8665898	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:8665898C>G	ENST00000270328.4	-	5	990	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E242Q			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	242	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACCAGGGTCTCCACGTAGCGC	0.622000													45	60					0	0	0.139131	0	0
DNAAF3	352909	broad.mit.edu	37	19	55673126	55673126	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55673126G>A	ENST00000527223.2	-	6	753	c.752C>T	c.(751-753)gCg>gTg	p.A251V	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A230V|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A129V|DNAAF3_ENST00000524407.2_Missense_Mutation_p.A183V	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	183																	CATGGGGAACGCCTGGGGCCC	0.711000													4	1					0	0	0.184627	0	0
HRC	3270	broad.mit.edu	37	19	49657096	49657096	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:49657096C>G	ENST00000252825.4	-	1	1585	c.1399G>C	c.(1399-1401)Gga>Cga	p.G467R	HRC_ENST00000595625.1_Missense_Mutation_p.G467R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	467					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ACTGTGTGTCCTGGGGGGTGA	0.547000													33	58					0	0	0.268233	0	0
MUC16	94025	broad.mit.edu	37	19	9082810	9082810	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9082810G>A	ENST00000397910.4	-	1	9208	c.9005C>T	c.(9004-9006)tCa>tTa	p.S3002L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3003	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCATAGCTGATGATGCCTT	0.507000													50	55					0	0	0.139131	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241516112	241516112	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:241516112C>G	ENST00000270357.4	+	9	1571	c.978C>G	c.(976-978)atC>atG	p.I326M	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1						leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCATTGACATCTCCAAGTGGA	0.672000													48	30					0	0	0.139131	0	0
PSIP1	11168	broad.mit.edu	37	9	15472667	15472667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:15472667G>A	ENST00000380733.4	-	10	1283	c.940C>T	c.(940-942)Cga>Tga	p.R314*	PSIP1_ENST00000380715.1_Nonsense_Mutation_p.R314*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.R314*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.R314*|PSIP1_ENST00000380716.4_Nonsense_Mutation_p.R314*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	314					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGCGTTTTCGATCTGCTGCT	0.363000													32	5					0	0	0.214465	0	0
AHNAK	79026	broad.mit.edu	37	11	62295516	62295516	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62295516G>T	ENST00000378024.4	-	5	6647	c.6373C>A	c.(6373-6375)Cac>Aac	p.H2125N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2125					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCAAGTGTAAGTCCACA	0.522000													5	240					0.00198382	0.00202909	0.248553	1	0
PRDX2	7001	broad.mit.edu	37	19	12911854	12911854	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:12911854G>C	ENST00000301522.2	-	3	261	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	PRDX2_ENST00000435703.1_Missense_Mutation_p.L45V|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Missense_Mutation_p.L45V	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	45	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GTGAAGTCCAGAGGGTAGAAA	0.602000													20	25					0	0	0.249174	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81072474	81072474	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:81072474G>A	ENST00000334512.5	+	25	3744	c.3172G>A	c.(3172-3174)Gat>Aat	p.D1058N	ZMIZ1_ENST00000446377.2_Missense_Mutation_p.D124N	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1058					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAATAGTAACGATGACCTCCT	0.537000													54	104					0	0	0.139131	0	0
MSH3	4437	broad.mit.edu	37	5	80063775	80063775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:80063775G>C	ENST00000265081.6	+	14	2000	c.1920G>C	c.(1918-1920)ttG>ttC	p.L640F		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	640					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGTTCTTCTTGATTGTCAAAA	0.303000								Mismatch excision repair (MMR)					8	27					0	0	0.069234	0	0
RYR2	6262	broad.mit.edu	37	1	237947553	237947553	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:237947553G>A	ENST00000366574.2	+	90	12858	c.12541G>A	c.(12541-12543)Gga>Aga	p.G4181R	RYR2_ENST00000360064.6_Missense_Mutation_p.G4187R|RYR2_ENST00000542537.1_Missense_Mutation_p.G4165R|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4181					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACGAAGGCGGAGAGAAAGA	0.502000													6	76					0	0	0.038147	0	0
TAP1	6890	broad.mit.edu	37	6	32821186	32821186	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:32821186G>A	ENST00000354258.4	-	1	569	c.408C>T	c.(406-408)ctC>ctT	p.L136L	PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	136					antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CCGTTGCCCTGAGGACCCCGC	0.697000													5	10					0	0	0.217242	0	0
CORO6	84940	broad.mit.edu	37	17	27946116	27946116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:27946116G>C	ENST00000345068.5	-	4	626	c.413C>G	c.(412-414)tCc>tGc	p.S138C	CORO6_ENST00000580212.1_Missense_Mutation_p.S138C|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.S138C|CORO6_ENST00000584969.1_Missense_Mutation_p.S138C|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000445145.2_Missense_Mutation_p.S138C			Q6QEF8	CORO6_HUMAN	coronin 6	138					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						AGGGTGCCAGGAGAGGATGCC	0.597000													26	31					0	0	0.091800	0	0
ZNF559	84527	broad.mit.edu	37	19	9453579	9453579	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9453579G>T	ENST00000393883.2	+	6	2100	c.1452G>T	c.(1450-1452)atG>atT	p.M484I	ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.M548I|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.M484I|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.M404I	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CAGTACACATGAGAACTCACA	0.433000													28	29					4.3181e-19	4.60784e-19	0.173368	1	0
ENTPD4	9583	broad.mit.edu	37	8	23290508	23290508	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:23290508C>T	ENST00000358689.4	-	13	2017	c.1782G>A	c.(1780-1782)cgG>cgA	p.R594R	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Silent_p.R586R	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	594					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CCGAGCTGCTCCGGGGAGTGC	0.647000													22	27					0	0	0.083992	0	0
CYP27C1	339761	broad.mit.edu	37	2	127951379	127951379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:127951379G>C	ENST00000335247.7	-	6	914	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V	CYP27C1_ENST00000409327.1_Missense_Mutation_p.L262V	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	262						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TTCGGAATCAGATACCCGCCA	0.597000													26	24					0	0	0.099896	0	0
TBC1D14	57533	broad.mit.edu	37	4	6969065	6969065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:6969065G>C	ENST00000409757.4	+	3	881	c.757G>C	c.(757-759)Gac>Cac	p.D253H	TBC1D14_ENST00000410031.1_Missense_Mutation_p.D25H|TBC1D14_ENST00000448507.1_Missense_Mutation_p.D253H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	253						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGCAAGGCTTGACAAACACAA	0.413000													8	136					0	0	0.069234	0	0
SACS	26278	broad.mit.edu	37	13	23915753	23915753	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:23915753G>A	ENST00000382298.3	-	10	2850	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	SACS_ENST00000382292.3_Silent_p.F754F|SACS_ENST00000402364.1_Silent_p.F4F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	754					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGCCAGGCCAGAATGTATTCA	0.373000													31	52					0	0	0.111260	0	0
ZMYM4	9202	broad.mit.edu	37	1	35851047	35851047	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:35851047C>G	ENST00000314607.6	+	10	1654	c.1574C>G	c.(1573-1575)tCa>tGa	p.S525*	ZMYM4_ENST00000373297.2_Intron	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	525					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAATAGAAATCAGCCAAAATT	0.318000													29	50					0	0	0.111260	0	0
MALAT1	378938	broad.mit.edu	37	11	65268331	65268331	+	RNA	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:65268331G>A	ENST00000534336.1	+	0	3099					NR_002819.2																						GTTTCGTACTGAGGTGTAAAG	0.383000													8	6					0	0	0.069234	0	0
ATG3	64422	broad.mit.edu	37	3	112255401	112255401	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:112255401C>G	ENST00000402314.2	-	10	1102	c.715G>C	c.(715-717)Gat>Cat	p.D239H	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.D239H	NM_001278712.1	NP_001265641.1	Q9NT62	ATG3_HUMAN	autophagy related 3	239					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						TTCACATGATCCTGACTGATG	0.428000													35	50					0	0	0.193644	0	0
DDR2	4921	broad.mit.edu	37	1	162745932	162745932	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:162745932C>G	ENST00000367922.3	+	17	2493	c.2055C>G	c.(2053-2055)acC>acG	p.T685T	DDR2_ENST00000367921.3_Silent_p.T685T	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2		Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCAGTTACACCAATCTGAAGT	0.413000													231	61					0	0	0.139131	0	0
FNDC7	163479	broad.mit.edu	37	1	109271379	109271379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:109271379C>T	ENST00000370017.3	+	8	1772	c.1495C>T	c.(1495-1497)Cag>Tag	p.Q499*	FNDC7_ENST00000271311.2_Nonsense_Mutation_p.Q500*	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	500	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AGGACTGTATCAGTGCAGCAG	0.542000													30	40					0	0	0.225048	0	0
C12orf60	144608	broad.mit.edu	37	12	14975926	14975926	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:14975926C>T	ENST00000330828.2	+	2	261	c.57C>T	c.(55-57)ttC>ttT	p.F19F	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	19										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CCAAAATGTTCTTCTTTCATG	0.368000													27	48					0	0	0.116897	0	0
ZNF846	162993	broad.mit.edu	37	19	9869338	9869338	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9869338C>T	ENST00000397902.2	-	6	828	c.415G>A	c.(415-417)Gag>Aag	p.E139K	ZNF846_ENST00000588267.1_Missense_Mutation_p.E10K|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.E10K	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						GAAGTTTTCTCTCCAATGTGA	0.378000													27	47					0	0	0.144211	0	0
SYMPK	8189	broad.mit.edu	37	19	46328437	46328437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:46328437C>T	ENST00000245934.7	-	18	2726	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	828					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACCGGCTGCTCAATGACCCTC	0.652000													56	68					0	0	0.139131	0	0
RTL1	388015	broad.mit.edu	37	14	101349286	101349286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:101349286C>T	ENST00000534062.1	-	1	1898	c.1840G>A	c.(1840-1842)Gcg>Acg	p.A614T		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	614										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCCCAAGGCGCGGTGGAGGGA	0.552000													11	29					0	0	0.080935	0	0
OR3A2	4995	broad.mit.edu	37	17	3181494	3181494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:3181494C>T	ENST00000408891.2	-	1	774	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	246					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GTGGAGAAGGCCTTCTTTCGG	0.517000													10	16					0	0	0.105934	0	0
EFCC1	79825	broad.mit.edu	37	3	128758636	128758636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:128758636C>T	ENST00000436022.2	+	8	1742	c.431C>T	c.(430-432)tCg>tTg	p.S144L	EFCC1_ENST00000480450.1_Missense_Mutation_p.S581L	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		AGACAGCCCTCGGCACCAGCC	0.667000													56	48					0	0	0.139131	0	0
PTPN4	5775	broad.mit.edu	37	2	120712877	120712877	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:120712877G>C	ENST00000263708.2	+	20	2729	c.1958G>C	c.(1957-1959)gGa>gCa	p.G653A	PTPN4_ENST00000544261.1_Missense_Mutation_p.G286A	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	653						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CTTATCACTGGAACAGTCCTG	0.398000													17	23					0	0	0.091800	0	0
EVA1B	55194	broad.mit.edu	37	1	36788636	36788636	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:36788636C>T	ENST00000270824.1	-	2	294	c.3G>A	c.(1-3)atG>atA	p.M1I	SH3D21_ENST00000474766.1_Intron|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1			eva-1 homolog B (C. elegans)																		GCGGGGCATCCATGCTGCTCT	0.687000													37	44					0	0	0.131918	0	0
GABRE	2564	broad.mit.edu	37	X	151123200	151123200	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:151123200G>C	ENST00000370328.3	-	9	1547	c.1494C>G	c.(1492-1494)ctC>ctG	p.L498L	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	498					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGCCAGTAGAGCACATTGA	0.547000													11	3					0	0	0.080935	0	0
ZNF687	57592	broad.mit.edu	37	1	151261980	151261980	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:151261980C>G	ENST00000368879.2	+	5	2696	c.2598C>G	c.(2596-2598)ctC>ctG	p.L866L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCCTCTGCTCTTTGCCCAAA	0.547000													33	70					0	0	0.214465	0	0
TMEM156	80008	broad.mit.edu	37	4	39000395	39000395	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:39000395G>C	ENST00000381938.3	-	2	330	c.223C>G	c.(223-225)Cta>Gta	p.L75V	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	75						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GAGGGATTTAGAAAGATTCTC	0.363000													18	13					0	0	0.091800	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66299177	66299177	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:66299177G>C	ENST00000419755.3	+	16	1848	c.1770G>C	c.(1768-1770)gaG>gaC	p.E590D	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.E424D|BBS1_ENST00000455748.2_Missense_Mutation_p.E456D|BBS1_ENST00000318312.7_Missense_Mutation_p.E553D																							CCTTTGTGGAGAGTCTCAGTA	0.552000													61	99					0	0	0.139131	0	0
OR4C15	81309	broad.mit.edu	37	11	55322235	55322235	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:55322235G>A	ENST00000314644.2	+	1	453	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAGGCTGCATGATGCAGCTCT	0.483000										HNSCC(20;0.049)			42	66					0	0	0.111260	0	0
ZNF177	7730	broad.mit.edu	37	19	9492184	9492184	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9492184G>C	ENST00000541595.2	+	12	1326	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	ZNF177_ENST00000343499.4_Missense_Mutation_p.E233Q|ZNF177_ENST00000434737.2_Missense_Mutation_p.E393Q|ZNF177_ENST00000602738.1_Missense_Mutation_p.E233Q|ZNF177_ENST00000589262.1_Missense_Mutation_p.E393Q|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	233					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TCACACTGGAGAGAAGCCTTA	0.468000													55	101					0	0	0.139131	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291238	1291238	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:1291238G>C	ENST00000461509.2	+	2	361	c.167G>C	c.(166-168)aGa>aCa	p.R56T	TPSAB1_ENST00000338844.3_Missense_Mutation_p.R49T			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	49	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GTGAGCCTGAGAGTCCACGGC	0.706000													27	55					0	0	0.153744	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763619	77763619	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:77763619G>C	ENST00000521891.2	+	10	4910	c.4462G>C	c.(4462-4464)Gag>Cag	p.E1488Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1462Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1443Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1443Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1443						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGGAAATGGAGAGAGAGTA	0.502000										HNSCC(33;0.089)			21	30					0	0	0.099896	0	0
IMPG1	3617	broad.mit.edu	37	6	76734920	76734920	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:76734920T>A	ENST00000369963.3	-	4	508	c.319A>T	c.(319-321)Att>Ttt	p.I107F	IMPG1_ENST00000369950.3_Missense_Mutation_p.I185F			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	185					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.I185F(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGTTGAAATGACAATGGTT	0.323000													15	49					0	0	0.189662	0	0
ETV4	2118	broad.mit.edu	37	17	41606896	41606896	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:41606896C>T	ENST00000319349.5	-	11	1402	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	ETV4_ENST00000545089.1_Silent_p.E314E|ETV4_ENST00000393664.2_Silent_p.E368E|ETV4_ENST00000545954.1_Silent_p.E329E|ETV4_ENST00000591713.1_Silent_p.E368E|ETV4_ENST00000586826.1_Silent_p.E91E|ETV4_ENST00000538265.1_Silent_p.E329E	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	368					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TGAGCTTGAACTCCATTCCCC	0.587000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								28	38					0	0	0.134883	0	0
STAG2	10735	broad.mit.edu	37	X	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:123197011C>T	ENST00000371160.1	+	19	2067	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	593					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAGTTGCCTCAGTACTTTGA	0.279000													20	2					0	0	0.099896	0	0
CRHR1	1394	broad.mit.edu	37	17	43912040	43912040	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:43912040G>A	ENST00000339069.5	+	13	1350	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	CRHR1_ENST00000293493.7_Silent_p.S211S|CRHR1_ENST00000398285.3_Silent_p.S415S|CRHR1_ENST00000352855.5_Silent_p.S346S|CRHR1_ENST00000577353.1_Silent_p.S372S|CRHR1_ENST00000314537.5_Silent_p.S386S			P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	0					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACAAGCACTCGATCCGTGCCC	0.637000													55	58					0	0	0.139131	0	0
RRP1B	23076	broad.mit.edu	37	21	45093792	45093792	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:45093792G>A	ENST00000340648.4	+	4	430	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	105					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CATGAATCGAGAATGGAAAGG	0.408000													40	6					0	0	0.131918	0	0
KRT79	338785	broad.mit.edu	37	12	53227586	53227586	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:53227586G>A	ENST00000330553.5	-	1	493	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	153	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAAGGAGGCGAACTTGTTGT	0.607000													81	122					0	0	0.139131	0	0
CTCFL	140690	broad.mit.edu	37	20	56090809	56090809	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:56090809C>G	ENST00000608263.1	-	5	1802	c.1141G>C	c.(1141-1143)Gat>Cat	p.D381H	CTCFL_ENST00000243914.3_Missense_Mutation_p.D381H|CTCFL_ENST00000502686.2_Missense_Mutation_p.D119H|CTCFL_ENST00000539382.1_Missense_Mutation_p.D176H|CTCFL_ENST00000423479.3_Missense_Mutation_p.D381H|CTCFL_ENST00000433949.3_Missense_Mutation_p.D176H|CTCFL_ENST00000429804.3_Missense_Mutation_p.D381H|CTCFL_ENST00000422869.2_Missense_Mutation_p.D381H|CTCFL_ENST00000609232.1_Missense_Mutation_p.D381H|CTCFL_ENST00000608440.1_Missense_Mutation_p.D381H|CTCFL_ENST00000608903.1_Missense_Mutation_p.D119H|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000608425.1_Missense_Mutation_p.D381H|CTCFL_ENST00000371196.2_Missense_Mutation_p.D381H|CTCFL_ENST00000432255.2_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTGTAGGTATCTCTGCTGGCA	0.478000													174	105					0	0	0.139131	0	0
NFKBIE	4794	broad.mit.edu	37	6	44233167	44233167	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233167C>G	ENST00000275015.5	-	1	333	c.334G>C	c.(334-336)Gac>Cac	p.D112H		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	112					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTTGCGGGTCCGCTTGGCAG	0.786000													2	4					0	0	0.115264	0	0
IER2	9592	broad.mit.edu	37	19	13264409	13264409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:13264409C>T	ENST00000588173.1	+	1	1621	c.409C>T	c.(409-411)Ccg>Tcg	p.P137S	CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Missense_Mutation_p.P137S|IER2_ENST00000587885.1_Missense_Mutation_p.P137S|CTC-250I14.6_ENST00000592882.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	137										kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGACTGGTCCCGAGCAAGAA	0.687000											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	2					0	0	0.150653	0	0
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	by1000genomes	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:11058248G>A	ENST00000470054.1	-	0	399									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)		GCAGCACAAGGATAATGATAC	0.433000													4	133					0	0	0.184627	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162438	141162438	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:141162438G>C	ENST00000514251.1	+	4	1487	c.1208G>C	c.(1207-1209)gGa>gCa	p.G403A	ZBTB38_ENST00000441582.2_Missense_Mutation_p.G403A|ZBTB38_ENST00000321464.5_Missense_Mutation_p.G404A			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	403					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CCCATTCCTGGAGGAAACCAA	0.428000													47	51					0	0	0.139131	0	0
FGFR3	2261	broad.mit.edu	37	4	1808937	1808937	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1808937delC	ENST00000340107.4	+	18	2631	c.2375delC	c.(2374-2376)gccfs	p.A792fs	FGFR3_ENST00000481110.2_Frame_Shift_Del_p.C767fs|FGFR3_ENST00000352904.1_Frame_Shift_Del_p.A678fs|FGFR3_ENST00000260795.2_Frame_Shift_Del_p.A790fs|FGFR3_ENST00000412135.2_Frame_Shift_Del_p.A678fs|FGFR3_ENST00000440486.2_Frame_Shift_Del_p.A790fs	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	790					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCGTGTTTGCCCACGACCTG	0.687		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				265	83	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22748956	22748956	+	RNA	DEL	A	A	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:22748956delA	ENST00000511446.2	+	0	328				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGATTTGTTAAAAAATGGGG	0.363													12	208	---	---	---	---					
LNX1	84708	broad.mit.edu	37	4	54342918	54342918	+	Splice_Site	DEL	A	A	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:54342918delA	ENST00000306888.2	-	8	1856		c.e8+1		FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Splice_Site	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase							cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTGGACTTACCGTGGTAAT	0.532													38	144	---	---	---	---					
ELN	2006	broad.mit.edu	37	7	73477649	73477651	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:73477649_73477651delCCG	ENST00000252034.7	+	28	2267_2269	c.1868_1870delCCG	c.(1867-1872)cccgcc>ccc	p.A630del	ELN_ENST00000320492.7_In_Frame_Del_p.A549del|ELN_ENST00000358929.4_In_Frame_Del_p.A698del|ELN_ENST00000458204.1_In_Frame_Del_p.A620del|ELN_ENST00000357036.5_In_Frame_Del_p.A635del|ELN_ENST00000414324.1_In_Frame_Del_p.A606del|ELN_ENST00000380553.4_In_Frame_Del_p.A494del|ELN_ENST00000380584.4_In_Frame_Del_p.A582del|ELN_ENST00000380575.4_In_Frame_Del_p.A601del|ELN_ENST00000380562.4_In_Frame_Del_p.A636del|ELN_ENST00000445912.1_In_Frame_Del_p.A630del|ELN_ENST00000380576.5_In_Frame_Del_p.A611del|ELN_ENST00000429192.1_In_Frame_Del_p.A616del|ELN_ENST00000320399.6_In_Frame_Del_p.A663del	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	692	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGAGCCGGACccgccgccgccgc	0.680			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						2	4	---	---	---	---					
MMP16	4325	broad.mit.edu	37	8	89339798	89339800	+	RNA	DEL	CTC	CTC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:89339798_89339800delCTC	ENST00000523254.1	+	0	357																											gcactgcctactcctcctcctcc	0.734													2	4	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del		NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													2	4	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8051117	8051128	+	In_Frame_Del	DEL	GCCCCCGCGCCC	GCCCCCGCGCCC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:8051117_8051128delGCCCCCGCGCCC	ENST00000344293.5	+	5	2598_2609	c.2392_2403delGCCCCCGCGCCC	c.(2392-2403)gcccccgcgcccdel	p.APAP798del		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	798	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.A800A(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						cccaccgccggcccccgcgcccgcccccggcc	0.750													10	41	---	---	---	---					
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)ttcdel	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	97	---	---	---	---					
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:104879687delT	ENST00000393141.2	-	2	98	c.67delA	c.(67-69)aggfs	p.R24fs	CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388													7	30	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577562	7577563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:7577562_7577563insT	ENST00000420246.2	-	7	850_851	c.718_719insA	c.(718-720)agtfs	p.S240fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.S240fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S240fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S240fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S240fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S240fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	240	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (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.S240G(14)|p.0?(8)|p.S240I(6)|p.?(5)|p.N239_C242delNSSC(3)|p.M237_N239delMCN(3)|p.S240C(3)|p.N239_S240insX(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.H233_C242del10(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.S240R(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.S240fs*23(1)|p.N239_C242>S(1)|p.N239_C242del(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)		CATGCAGGAACTGTTACACATG	0.574		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)			71	19	---	---	---	---					
SALL3	27164	broad.mit.edu	37	18	76752223	76752223	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:76752223delC	ENST00000575389.2	+	2	232	c.232delC	c.(232-234)cccfs	p.P78fs	SALL3_ENST00000537592.2_Frame_Shift_Del_p.P78fs|SALL3_ENST00000536229.3_5'UTR			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAAGCTCCCGCCCGTGCTGAT	0.716													26	18	---	---	---	---					
DAZAP1	26528	broad.mit.edu	37	19	1434776	1434776	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:1434776delC	ENST00000233078.4	+	12	1250	c.1089delC	c.(1087-1089)ttcfs	p.F363fs	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	363	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGGGCTTCTCAGACCCCA	0.706													48	67	---	---	---	---					
LRG1	116844	broad.mit.edu	37	19	4538453	4538453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:4538453delG	ENST00000306390.6	-	2	1003	c.543delC	c.(541-543)cccfs	p.P181fs	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	181						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCCCGGGGGGCAGTT	0.622													7	264	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45567607_45567609delCTC	ENST00000544944.2	+	12	1820_1822	c.1128_1130delCTC	c.(1126-1131)cgctcc>cgc	p.S385del	CLASRP_ENST00000391953.4_In_Frame_Del_p.S323del|CLASRP_ENST00000221455.3_In_Frame_Del_p.S385del			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	385	Arg-rich.|Ser-rich.				mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCAGCCGCCGctcctcctcctcc	0.744													4	9	---	---	---	---					
