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
PRDM9	56979	broad.mit.edu	37	5	23527407	23527407	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:23527407G>C	ENST00000296682.3	+	11	2392	c.2210G>C	c.(2209-2211)aGa>aCa	p.R737T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	737					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCTCCTCAGACACCAGAGG	0.582000										HNSCC(3;0.000094)			4	89					0	0	0.047766	0	0
NCAPH	23397	broad.mit.edu	37	2	97024792	97024792	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:97024792G>A	ENST00000455200.1	+	10	1480	c.1185G>A	c.(1183-1185)atG>atA	p.M395I	NCAPH_ENST00000240423.4_Missense_Mutation_p.M406I|NCAPH_ENST00000427946.1_Missense_Mutation_p.M270I			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	406					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGGAAGAAATGATTTCCCTTG	0.403000													25	45					0	0	0.108266	0	0
LPIN2	9663	broad.mit.edu	37	18	2931293	2931293	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr18:2931293G>A	ENST00000261596.4	-	9	1655	c.1417C>T	c.(1417-1419)Ctt>Ttt	p.L473F		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	473					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CCCCCGCAAAGGGAGAGGGTA	0.537000													4	51					0	0	0.021553	0	0
SIX5	147912	broad.mit.edu	37	19	46268862	46268862	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:46268862A>G	ENST00000317578.6	-	3	2498	c.2117T>C	c.(2116-2118)cTg>cCg	p.L706P	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	706						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GGTGGCCCCCAGGAGCAGCCC	0.677000													30	82					0	0	0.144211	0	0
TCERG1	10915	broad.mit.edu	37	5	145836770	145836770	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:145836770A>G	ENST00000296702.5	+	3	348	c.310A>G	c.(310-312)Atg>Gtg	p.M104V	TCERG1_ENST00000394421.2_Missense_Mutation_p.M104V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	104	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTCCTCCCATGAGTTCCAT	0.443000													37	134					0	0	0.074837	0	0
TBX5	6910	broad.mit.edu	37	12	114836387	114836387	+	Silent	SNP	T	T	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:114836387T>G	ENST00000310346.4	-	5	1167	c.501A>C	c.(499-501)ccA>ccC	p.P167P	TBX5_ENST00000349716.5_Silent_p.P117P|TBX5_ENST00000405440.2_Silent_p.P167P|TBX5_ENST00000526441.1_Silent_p.P167P|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	167					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CATGCCCAAATGGGTCCAGGT	0.592000													6	22					0	0	0.021553	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234742916	234742916	+	Silent	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:234742916T>A	ENST00000366609.3	-	2	1761	c.1731A>T	c.(1729-1731)ggA>ggT	p.G577G	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Silent_p.G561G	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CTTTCACATCTCCAGCAAGGA	0.433000													53	134					0	0	0.139131	0	0
TAF15	8148	broad.mit.edu	37	17	34174079	34174079	+	Silent	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:34174079G>T	ENST00000592237.1	+	19	1852	c.1323G>T	c.(1321-1323)gtG>gtT	p.V441V	TAF15_ENST00000311979.3_3'UTR|TAF15_ENST00000588240.1_3'UTR			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTATTTGGGTGGGAGGGCTGG	0.433000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								3	14					0.115264	0.120364	0.115264	1	0
ZNF408	79797	broad.mit.edu	37	11	46726525	46726525	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:46726525A>T	ENST00000311764.2	+	5	1505	c.1275A>T	c.(1273-1275)aaA>aaT	p.K425N		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGACCTCAAAGAGCACCAGG	0.637000													13	88					0	0	0.119110	0	0
GSTA5	221357	broad.mit.edu	37	6	52699031	52699031	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:52699031G>C	ENST00000370989.1	-	5	480	c.322C>G	c.(322-324)Ctt>Gtt	p.L108V	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L108V			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	108	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.L108V(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGAGCAGAAGAAGGATCATT	0.368000													41	176					0	0	0.080422	0	0
ESF1	51575	broad.mit.edu	37	20	13695669	13695669	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr20:13695669T>C	ENST00000202816.1	-	14	2515	c.2408A>G	c.(2407-2409)gAa>gGa	p.E803G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	803	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTGAGTAAGTTCTTGTTCTTT	0.368000													6	198					0	0	0.021553	0	0
ZNF404	342908	broad.mit.edu	37	19	44377272	44377272	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:44377272C>T	ENST00000587539.1	-	3	1093	c.1094G>A	c.(1093-1095)tGt>tAt	p.C365Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.C363Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGAGCCTCTACAAAAGGCCTT	0.383000													14	35					0	0	0.119110	0	0
WAPAL	23063	broad.mit.edu	37	10	88230780	88230780	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:88230780A>G	ENST00000298767.5	-	8	2583	c.2111T>C	c.(2110-2112)tTt>tCt	p.F704S		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	704	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CAAGGTTTTAAAGACCATTGC	0.393000													11	49					0	0	0.093190	0	0
CALCA	796	broad.mit.edu	37	11	14991621	14991621	+	Splice_Site	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:14991621C>T	ENST00000361010.3	-	3	161	c.86_splice	c.e3-1	p.R29_splice	CALCA_ENST00000396372.2_Splice_Site_p.R29_splice|CALCA_ENST00000486207.1_Splice_Site_p.R29_splice|CALCA_ENST00000359642.3_Splice_Site_p.R29_splice|CALCA_ENST00000331587.4_Splice_Site_p.R29_splice|CALCB_ENST00000523376.1_Intron	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	29					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CCAGGGCAGACCTGTGGAGGG	0.632000													5	35					0	0	0.014758	0	0
KRT34	3885	broad.mit.edu	37	17	39535273	39535273	+	Silent	SNP	G	G	A	rs141543111	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:39535273G>A	ENST00000394001.1	-	6	1188	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	386	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GGGCACGCACGTCCAGCAGCA	0.582000													24	121					0	0	0.091800	0	0
MED22	6837	broad.mit.edu	37	9	136212036	136212036	+	Silent	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:136212036G>C	ENST00000491289.1	-	3	776	c.195C>G	c.(193-195)gcC>gcG	p.A65A	MED22_ENST00000471524.1_5'UTR|MED22_ENST00000486395.1_Silent_p.A65A|MED22_ENST00000344469.5_Silent_p.A65A|MED22_ENST00000476080.1_Silent_p.A65A|MED22_ENST00000343730.5_Silent_p.A65A|MED22_ENST00000371999.1_Intron			Q15528	MED22_HUMAN	mediator complex subunit 22	65					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CGATGTTGGCGGCTCGCACAT	0.597000													5	33					0	0	0.029380	0	0
ZNF460	10794	broad.mit.edu	37	19	57803200	57803200	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:57803200C>A	ENST00000360338.3	+	3	1613	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	ZNF460_ENST00000537645.1_Missense_Mutation_p.R390S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTTTTACCCGCATGTCAGG	0.478000													3	61					0.004672	0.00505776	0.115264	1	0
FAM47C	442444	broad.mit.edu	37	X	37026817	37026817	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:37026817C>T	ENST00000358047.3	+	1	386	c.334C>T	c.(334-336)Cca>Tca	p.P112S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	112										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCAGCACAGCCAGCACGGAA	0.542000													22	120					0	0	0.108266	0	0
PMP22	5376	broad.mit.edu	37	17	15134248	15134248	+	Missense_Mutation	SNP	G	G	A	rs28936682		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:15134248G>A	ENST00000395938.2	-	5	663	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000494511.1_Missense_Mutation_p.A97V|PMP22_ENST00000312280.3_Missense_Mutation_p.R157W	NM_153321.1	NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	157			R -> G (in dbSNP:rs28936682).|R -> W (in DSS; dbSNP:rs28936682).		peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TCGCGTTTCCGCAAGATCACA	0.547000													4	89					0	0	0.009096	0	0
RHPN2	85415	broad.mit.edu	37	19	33471132	33471132	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:33471132T>A	ENST00000254260.3	-	15	1866	c.1831A>T	c.(1831-1833)Atg>Ttg	p.M611L	RHPN2_ENST00000588683.1_5'UTR|RHPN2_ENST00000400226.4_Missense_Mutation_p.M460L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	611					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GTTTTCTGCATTCCCACGGAG	0.408000													18	86					0	0	0.043863	0	0
TICRR	90381	broad.mit.edu	37	15	90126125	90126125	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:90126125T>A	ENST00000268138.7	+	2	968	c.863T>A	c.(862-864)tTg>tAg	p.L288*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.L288*|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		TTAAACCGTTTGCTCTACAAT	0.418000													28	77					0	0	0.134883	0	0
TECPR1	25851	broad.mit.edu	37	7	97874215	97874215	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr7:97874215A>G	ENST00000447648.2	-	4	689	c.390T>C	c.(388-390)ggT>ggC	p.G130G	TECPR1_ENST00000379795.3_Silent_p.G130G|TECPR1_ENST00000542604.1_Silent_p.G51G			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	130						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGTGGGTTCACCTCCAAAAT	0.642000													8	27					0	0	0.047766	0	0
DCAF13	25879	broad.mit.edu	37	8	104444929	104444929	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr8:104444929A>G	ENST00000297579.5	+	7	1478	c.1201A>G	c.(1201-1203)Atg>Gtg	p.M401V	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	249					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGAACCCTATGGAAGCTTT	0.333000													16	67					0	0	0.146539	0	0
RAB40B	10966	broad.mit.edu	37	17	80615875	80615875	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:80615875C>T	ENST00000571995.1	-	6	832	c.701G>A	c.(700-702)aGg>aAg	p.R234K	RAB40B_ENST00000269347.6_Missense_Mutation_p.R55K|RAB40B_ENST00000538809.2_3'UTR	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	234					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTGCATCATCCTGGCATTCAG	0.637000													6	193					0	0	0.021553	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	66					0	0	0.014758	0	0
OR4K17	390436	broad.mit.edu	37	14	20585784	20585784	+	Missense_Mutation	SNP	C	C	A	rs142758414		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr14:20585784C>A	ENST00000315543.4	+	1	219	c.219C>A	c.(217-219)aaC>aaA	p.N73K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTTGGGTAACCTTCTTATTA	0.413000													15	354					0.00316338	0.00345628	0.132662	1	0
MECP2	4204	broad.mit.edu	37	X	153296615	153296615	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:153296615C>A	ENST00000303391.6	-	4	913	c.664G>T	c.(664-666)Gtc>Ttc	p.V222F	MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.V234F	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	222					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATCTTGACAAGGAGCTTC	0.627000													7	319					0.0381472	0.0405529	0.038147	1	0
WDR17	116966	broad.mit.edu	37	4	177050013	177050013	+	Splice_Site	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:177050013T>C	ENST00000393643.2	+	6	1165		c.e6+2		WDR17_ENST00000280190.4_Splice_Site|WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000507824.2_Splice_Site	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GAAAAAAGTGTAAGTAAAAAT	0.244000													9	27					0	0	0.058154	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148687091	148687091	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:148687091G>A	ENST00000296721.4	+	7	760	c.662G>A	c.(661-663)tGc>tAc	p.C221Y	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.C221Y|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	221	PH 1.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGGAATGCAGGATATGT	0.607000													21	58					0	0	0.055883	0	0
METTL4	64863	broad.mit.edu	37	18	2544671	2544671	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr18:2544671T>A	ENST00000319888.6	-	7	1960	c.1162A>T	c.(1162-1164)Aaa>Taa	p.K388*	METTL4_ENST00000574538.1_Nonsense_Mutation_p.K388*			Q8N3J2	METL4_HUMAN	methyltransferase like 4	388					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGCAGTTTTTTCTTGAACC	0.338000													19	48					0	0	0.055883	0	0
TMEM91	641649	broad.mit.edu	37	19	41888745	41888745	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:41888745C>T	ENST00000539627.1	+	3	600	c.279C>T	c.(277-279)caC>caT	p.H93H	TMEM91_ENST00000604123.1_Silent_p.H150H|TMEM91_ENST00000356385.4_Silent_p.H93H|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000447302.2_Silent_p.H93H|TMEM91_ENST00000542945.1_Silent_p.H93H|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000392002.2_Silent_p.H93H|TMEM91_ENST00000413014.2_Silent_p.H93H|TMEM91_ENST00000544232.1_Silent_p.H93H|TMEM91_ENST00000436170.2_Silent_p.H93H					transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TTCTACCCCACGACCACCTCG	0.572000													142	531					0	0	0.139131	0	0
MTOR	2475	broad.mit.edu	37	1	11217289	11217289	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:11217289A>G	ENST00000361445.4	-	30	4465	c.4389T>C	c.(4387-4389)taT>taC	p.Y1463Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1463	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTTTCTTGTCATAGGCCACAA	0.537000													25	130					0	0	0.076483	0	0
DCAF17	80067	broad.mit.edu	37	2	172300079	172300079	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:172300079A>C	ENST00000375255.3	+	3	604	c.277A>C	c.(277-279)Aaa>Caa	p.K93Q	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.K93Q	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	93						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AAAATGTTCCAAATCAGAAAA	0.318000													14	50					0	0	0.132662	0	0
SRPK1	6732	broad.mit.edu	37	6	35838125	35838125	+	Silent	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:35838125T>C	ENST00000373825.2	-	10	1209	c.924A>G	c.(922-924)gaA>gaG	p.E308E	SRPK1_ENST00000373822.1_Silent_p.E201E|SRPK1_ENST00000423325.2_Silent_p.E292E			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	308	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GACTCTCTGATTCTTCTTGCT	0.413000													7	21					0	0	0.029380	0	0
MYH7	4625	broad.mit.edu	37	14	23886884	23886884	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr14:23886884G>A	ENST00000355349.3	-	31	4343	c.4181C>T	c.(4180-4182)gCc>gTc	p.A1394V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1394					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCCGCTGGGCCAGCTTCTT	0.587000													4	24					0	0	0.029380	0	0
TFG	10342	broad.mit.edu	37	3	100467193	100467193	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:100467193G>A	ENST00000240851.4	+	8	1361	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	TFG_ENST00000476228.1_Missense_Mutation_p.V337M|TFG_ENST00000490574.1_Missense_Mutation_p.V341M|TFG_ENST00000418917.2_Missense_Mutation_p.V337M|TFG_ENST00000481203.1_3'UTR	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	341					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TAATTATACTGTGGCTCCTGC	0.527000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								5	128					0	0	0.014758	0	0
YOD1	55432	broad.mit.edu	37	1	207222971	207222971	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:207222971A>G	ENST00000367084.1	-	4	513	c.309T>C	c.(307-309)ccT>ccC	p.P103P	YOD1_ENST00000391927.1_Silent_p.P103P|YOD1_ENST00000315927.4_Silent_p.P147P|PFKFB2_ENST00000411990.2_Intron	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	147	UBX-like.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TGGTAAGCACAGGCAAAGTTT	0.493000													14	53					0	0	0.105934	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463523	25463523	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:25463523C>G	ENST00000264709.3	-	18	2496	c.2159G>C	c.(2158-2160)cGc>cCc	p.R720P	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R720P|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R531P|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R497P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	720					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGCCCTTGCGAGCAGGGTT	0.577000			"""Mis, F, N, S"""		AML								30	112					0	0	0.134883	0	0
MOB2	81532	broad.mit.edu	37	11	1501649	1501649	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:1501649C>T	ENST00000329957.6	-	3	528	c.339G>A	c.(337-339)acG>acA	p.T113T	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	82						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						TCGTCTGACACGTCTCTCCTG	0.577000													13	79					0	0	0.132662	0	0
ZBTB8OS	339487	broad.mit.edu	37	1	33116038	33116038	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:33116038G>T	ENST00000468695.1	-	1	147	c.129C>A	c.(127-129)taC>taA	p.Y43*	ZBTB8OS_ENST00000373501.2_Nonsense_Mutation_p.Y31*|ZBTB8OS_ENST00000341885.5_Nonsense_Mutation_p.Y43*|ZBTB8OS_ENST00000492007.1_5'UTR	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	31										endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTCACACTCGTACTTCCTAT	0.498000													14	78					1.02788e-11	1.18912e-11	0.033300	1	0
TRPC4	7223	broad.mit.edu	37	13	38266346	38266346	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr13:38266346C>A	ENST00000379705.3	-	4	1881	c.1024G>T	c.(1024-1026)Gtc>Ttc	p.V342F	TRPC4_ENST00000379681.3_Missense_Mutation_p.V342F|TRPC4_ENST00000379679.1_Missense_Mutation_p.V169F|TRPC4_ENST00000338947.5_Missense_Mutation_p.V169F|TRPC4_ENST00000379673.2_Missense_Mutation_p.V342F|TRPC4_ENST00000426868.2_Missense_Mutation_p.V342F|TRPC4_ENST00000355779.2_Missense_Mutation_p.V342F|TRPC4_ENST00000358477.2_Missense_Mutation_p.V342F|TRPC4_ENST00000447043.1_Missense_Mutation_p.V342F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	342					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)		ACAGAGAAGACAGGAAAAAGA	0.478000													8	47					1.12685e-05	1.25442e-05	0.047766	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23816122	23816122	+	Silent	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:23816122T>A	ENST00000264867.2	-	8	1103	c.984A>T	c.(982-984)tcA>tcT	p.S328S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	328	Interaction with PPARG.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGGCTTCTTTGATGGTGGTG	0.507000													51	158					0	0	0.139131	0	0
NOC3L	64318	broad.mit.edu	37	10	96099569	96099569	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:96099569A>C	ENST00000371361.3	-	17	1989	c.1889T>G	c.(1888-1890)cTt>cGt	p.L630R	NOC3L_ENST00000371350.1_Missense_Mutation_p.L630R|NOC3L_ENST00000543788.1_Missense_Mutation_p.L368R	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	630						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AAGGGTACAAAGGCGTTTGAT	0.408000													18	58					0	0	0.033300	0	0
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C	rs145686658	by1000genomes	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428000													3	119					0	0	0.115264	0	0
SPTBN5	51332	broad.mit.edu	37	15	42169539	42169539	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:42169539G>C	ENST00000320955.6	-	18	3713	c.3486C>G	c.(3484-3486)gaC>gaG	p.D1162E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1162					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCTCTGAGCGTCCAGCTGCT	0.627000													4	15					0	0	0.014758	0	0
ATP13A1	57130	broad.mit.edu	37	19	19758234	19758234	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:19758234G>A	ENST00000357324.6	-	21	2923	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	ATP13A1_ENST00000291503.5_Missense_Mutation_p.S848F	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	966					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCACTGGATGGATGAGAGCTT	0.642000													8	27					0	0	0.047766	0	0
CCDC82	79780	broad.mit.edu	37	11	96116619	96116619	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:96116619A>C	ENST00000278520.5	-	4	1233	c.805T>G	c.(805-807)Tgc>Ggc	p.C269G	CCDC82_ENST00000423339.2_Missense_Mutation_p.C269G|CCDC82_ENST00000542662.1_Missense_Mutation_p.C269G			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	269							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTGCTTGGGCAAGATTCCTTT	0.318000													5	18					0	0	0.021553	0	0
WDR90	197335	broad.mit.edu	37	16	700677	700677	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr16:700677A>G	ENST00000549091.1	+	5	619	c.527A>G	c.(526-528)aAc>aGc	p.N176S	WDR90_ENST00000293879.4_Missense_Mutation_p.N176S	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	176										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGTCAGGAACCTGTACACC	0.607000													8	47					0	0	0.047766	0	0
TENM3	55714	broad.mit.edu	37	4	183714515	183714515	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:183714515C>T	ENST00000511685.1	+	26	6813	c.6690C>T	c.(6688-6690)gaC>gaT	p.D2230D	TENM3_ENST00000406950.2_Silent_p.D2230D					teneurin transmembrane protein 3																		ACCGTTATGACGGCCTGGGAA	0.458000													5	62					0	0	0.014758	0	0
VWA3B	200403	broad.mit.edu	37	2	98750303	98750303	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:98750303G>A	ENST00000477737.1	+	7	1093	c.889G>A	c.(889-891)Gag>Aag	p.E297K	VWA3B_ENST00000451075.2_Missense_Mutation_p.E147K|VWA3B_ENST00000435344.1_Missense_Mutation_p.E297K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	297										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						CGCATTTGCCGAGAGAACAGA	0.478000													8	300					0	0	0.058154	0	0
PAN3	255967	broad.mit.edu	37	13	28750672	28750672	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr13:28750672A>T	ENST00000399613.1	+	3	220	c.157A>T	c.(157-159)Agt>Tgt	p.S53C	PAN3_ENST00000380958.3_Missense_Mutation_p.S199C			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	199	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCTAAATGACAGTGCCAAGCC	0.343000													7	104					0	0	0.029380	0	0
PIK3R6	146850	broad.mit.edu	37	17	8732128	8732128	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:8732128C>T	ENST00000311434.9	-	11	1308	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	357					platelet activation	cytosol											TCAGGGCTGCCGGGTGCAGGC	0.682000													3	32					0	0	0.115264	0	0
EYA2	2139	broad.mit.edu	37	20	45618709	45618709	+	Silent	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr20:45618709G>C	ENST00000327619.5	+	2	434	c.60G>C	c.(58-60)ctG>ctC	p.L20L	EYA2_ENST00000357410.3_Silent_p.L20L|EYA2_ENST00000317304.6_Silent_p.L20L|EYA2_ENST00000497428.1_3'UTR	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	20					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TGGATAAACTGAAGTTTAACC	0.453000													12	54					0	0	0.105934	0	0
SCN8A	6334	broad.mit.edu	37	12	52100421	52100421	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:52100421G>C	ENST00000354534.5	+	11	1735	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	SCN8A_ENST00000550891.1_Missense_Mutation_p.E519D|SCN8A_ENST00000545061.1_Missense_Mutation_p.E519D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	519					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTAAGTCAGAGTCAGAAGATG	0.438000													4	12					0	0	0.014758	0	0
MYOCD	93649	broad.mit.edu	37	17	12642618	12642618	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:12642618C>T	ENST00000425538.1	+	7	890	c.690C>T	c.(688-690)acC>acT	p.T230T	MYOCD_ENST00000343344.4_Silent_p.T230T|MYOCD_ENST00000395988.1_Silent_p.T134T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	230					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCCAGCACCCCCATAGCCG	0.592000													13	56					0	0	0.105934	0	0
ZNF141	7700	broad.mit.edu	37	4	367638	367638	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:367638A>G	ENST00000240499.7	+	4	1561	c.1412A>G	c.(1411-1413)aAa>aGa	p.K471R	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	471					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAACATAAGAAAATTCATACT	0.323000													24	94					0	0	0.083992	0	0
MED12	9968	broad.mit.edu	37	X	70345894	70345894	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:70345894G>A	ENST00000333646.6	+	18	2630	c.2431G>A	c.(2431-2433)Gat>Aat	p.D811N	MED12_ENST00000374102.1_Missense_Mutation_p.D811N|MED12_ENST00000374080.3_Missense_Mutation_p.D811N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	811					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)					AGGTGGGGAGGATGGGCAGAA	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	195					0	0	0.047766	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475600	75475600	+	RNA	SNP	C	C	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:75475600C>G	ENST00000459803.1	-	0	929					NR_024241.1																						TGGGGGCTCACCTAGCTCGGT	0.642000													3	80					0	0	0.009096	0	0
ASXL2	55252	broad.mit.edu	37	2	25972716	25972716	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:25972716G>C	ENST00000435504.4	-	12	2002	c.1709C>G	c.(1708-1710)tCt>tGt	p.S570C	ASXL2_ENST00000336112.4_Missense_Mutation_p.S542C|ASXL2_ENST00000404843.1_Missense_Mutation_p.S310C|ASXL2_ENST00000272341.4_Missense_Mutation_p.S310C			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGAGGGAAGACTTCCTCTT	0.547000													17	89					0	0	0.049695	0	0
DFFB	1677	broad.mit.edu	37	1	3789056	3789056	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:3789056C>A	ENST00000378209.3	+	6	1025	c.702C>A	c.(700-702)agC>agA	p.S234R	DFFB_ENST00000338895.3_Missense_Mutation_p.S234R	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	234					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACATGGACAGCTGCTTATCAA	0.502000													12	34					3.07112e-06	3.45135e-06	0.080935	1	0
VHL	7428	broad.mit.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGGTGAACTCGCGCGAGCCC	0.716000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				4	7					0.00909568	0.00975718	0.009096	1	0
JMJD6	23210	broad.mit.edu	37	17	74716493	74716493	+	Silent	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:74716493G>A	ENST00000445478.2	-	5	1232	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	JMJD6_ENST00000397625.4_Silent_p.S343S|JMJD6_ENST00000585429.1_Intron	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	343	Ser-rich.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						AAGAGTCGCTGGAGCTGTCGG	0.577000													25	64					0	0	0.091800	0	0
SH3BP2	6452	broad.mit.edu	37	4	2826453	2826453	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:2826453G>A	ENST00000442312.2	+	4	616	c.437G>A	c.(436-438)cGc>cAc	p.R146H	SH3BP2_ENST00000503393.2_Missense_Mutation_p.R175H|SH3BP2_ENST00000452765.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000435136.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000356331.5_Missense_Mutation_p.R118H|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000511747.1_Missense_Mutation_p.R118H	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	118					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GAGGAGGAGCGCAAGGTGACT	0.632000									Cherubism				6	47					0	0	0.029380	0	0
PHKA1	5255	broad.mit.edu	37	X	71813085	71813085	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:71813085G>C	ENST00000373545.3	-	29	3424	c.2986C>G	c.(2986-2988)Cct>Gct	p.P996A	PHKA1_ENST00000541944.1_Missense_Mutation_p.P966A|PHKA1_ENST00000373542.4_Missense_Mutation_p.P1038A|PHKA1_ENST00000339490.3_Missense_Mutation_p.P1025A|PHKA1_ENST00000373539.3_Missense_Mutation_p.P1055A			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1038					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)					TATGCACTAGGAAAGGACCCA	0.438000													23	78					0	0	0.076483	0	0
C11orf63	79864	broad.mit.edu	37	11	122775925	122775925	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:122775925T>C	ENST00000307257.6	+	4	1289	c.910T>C	c.(910-912)Ttt>Ctt	p.F304L	C11orf63_ENST00000227349.2_Intron|C11orf63_ENST00000531316.1_Intron	NM_199124.1	NP_954575.1	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	0										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATTCAAAACCTTTTGGAGCCA	0.428000													5	107					0	0	0.014758	0	0
CAMK1G	57172	broad.mit.edu	37	1	209781277	209781277	+	Splice_Site	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:209781277T>C	ENST00000009105.1	+	7	879	c.635_splice	c.e7+1	p.L212_splice	CAMK1G_ENST00000361322.2_Splice_Site_p.L212_splice|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	212	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CACCTACATATTGTGAGTAGA	0.577000													3	82					0	0	0.115264	0	0
KIAA1841	84542	broad.mit.edu	37	2	61308620	61308620	+	Missense_Mutation	SNP	C	C	T	rs141315892		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:61308620C>T	ENST00000402291.1	+	7	945	c.704C>T	c.(703-705)tCg>tTg	p.S235L	KIAA1841_ENST00000356719.2_Missense_Mutation_p.S235L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S235L|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S235L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	235										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CTTATTTCTTCGGAGTTTTTA	0.313000													4	128					0	0	0.021553	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421030	55421030	+	Silent	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:55421030G>C	ENST00000242994.3	+	2	1185	c.807G>C	c.(805-807)ggG>ggC	p.G269G		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	269					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGCAAGATGGGTCTCCTGACC	0.522000													45	194					0	0	0.124865	0	0
PBRM1	55193	broad.mit.edu	37	3	52613209	52613209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:52613209C>A	ENST00000356770.4	-	20	3300	c.3298G>T	c.(3298-3300)Gaa>Taa	p.E1100*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E1147*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E1147*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E1132*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E1132*|SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E1132*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E1107*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E1107*			Q86U86	PB1_HUMAN	polybromo 1	1132					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGGACATCTTCTTTTTCCTGT	0.408000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								30	58					5.6714e-07	6.49733e-07	0.045705	1	0
ZNF511	118472	broad.mit.edu	37	10	135123289	135123289	+	Silent	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:135123289G>A	ENST00000359035.3	+	3	240	c.237G>A	c.(235-237)gcG>gcA	p.A79A	ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Silent_p.A79A|ZNF511_ENST00000368554.4_Silent_p.A14A			Q8NB15	ZN511_HUMAN	zinc finger protein 511	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GGGTGCCCGCGTTTGCCTGCC	0.587000													22	44					0	0	0.076483	0	0
G6PC3	92579	broad.mit.edu	37	17	42148528	42148528	+	Silent	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:42148528G>A	ENST00000269097.4	+	1	426	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	65					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCATCACCGAGTGGCTCAACC	0.607000													7	32					0	0	0.029380	0	0
FLG	2312	broad.mit.edu	37	1	152277450	152277450	+	Silent	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:152277450G>T	ENST00000368799.1	-	3	9947	c.9912C>A	c.(9910-9912)tcC>tcA	p.S3304S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3304	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGTGGCGGGATCCGTGTC	0.567000									Ichthyosis				135	474					5.08508e-67	6.061e-67	0.139131	1	0
LCA5L	150082	broad.mit.edu	37	21	40795155	40795155	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr21:40795155T>C	ENST00000358268.2	-	5	1112	c.584A>G	c.(583-585)aAt>aGt	p.N195S	LCA5L_ENST00000380671.2_Missense_Mutation_p.N195S|LCA5L_ENST00000288350.3_Missense_Mutation_p.N195S|LCA5L_ENST00000485895.2_Missense_Mutation_p.N195S			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	195										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTGAGGTAGATTATTTTGTGA	0.318000													3	67					0	0	0.115264	0	0
RHPN2	85415	broad.mit.edu	37	19	33471138	33471138	+	Missense_Mutation	SNP	C	C	G	rs147967421		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:33471138C>G	ENST00000254260.3	-	15	1860	c.1825G>C	c.(1825-1827)Gtg>Ctg	p.V609L	RHPN2_ENST00000588683.1_5'UTR|RHPN2_ENST00000400226.4_Missense_Mutation_p.V458L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	609					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGCATTCCCACGGAGTATGTG	0.413000													16	86					0	0	0.038395	0	0
ACBD7	414149	broad.mit.edu	37	10	15120706	15120706	+	Silent	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:15120706T>A	ENST00000356189.5	-	3	224	c.177A>T	c.(175-177)gcA>gcT	p.A59A	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	59	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						TGAGGTTCCATGCTTCCCATT	0.388000													3	49					0	0	0.115264	0	0
HPS4	89781	broad.mit.edu	37	22	26873048	26873048	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr22:26873048A>T	ENST00000398145.2	-	4	803	c.187T>A	c.(187-189)Tgt>Agt	p.C63S	HPS4_ENST00000398141.1_Missense_Mutation_p.C58S|HPS4_ENST00000336873.5_Missense_Mutation_p.C63S|HPS4_ENST00000402105.3_Missense_Mutation_p.C58S	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	63					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAGAAACACAGCGGACAACT	0.438000									Hermansky-Pudlak syndrome				15	59					0	0	0.132662	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	27					0	0	0.115264	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148687092	148687092	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:148687092C>T	ENST00000296721.4	+	7	761	c.663C>T	c.(661-663)tgC>tgT	p.C221C	AFAP1L1_ENST00000515000.1_Silent_p.C221C|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	221	PH 1.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGGAATGCAGGATATGTG	0.612000													22	56					0	0	0.062417	0	0
MKRN3	7681	broad.mit.edu	37	15	23811291	23811291	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:23811291T>A	ENST00000314520.3	+	1	838	c.362T>A	c.(361-363)cTt>cAt	p.L121H	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	121						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCGCACGACCTTTCTGGTCGG	0.602000													4	104					0	0	0.014758	0	0
TMEM5	10329	broad.mit.edu	37	12	64202742	64202742	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:64202742C>A	ENST00000537373.1	+	6	1370	c.422C>A	c.(421-423)aCt>aAt	p.T141N	TMEM5_ENST00000261234.6_Missense_Mutation_p.T401N|TMEM5-AS1_ENST00000546214.1_RNA	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	401						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AAAGAGAAAACTATAATTTTA	0.348000													12	55					0.00010058	0.00011092	0.093190	1	0
MCM5	4174	broad.mit.edu	37	22	35812725	35812725	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr22:35812725A>G	ENST00000216122.4	+	12	1662	c.1508A>G	c.(1507-1509)aAc>aGc	p.N503S	MCM5_ENST00000382011.5_Missense_Mutation_p.N460S	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	503	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGGAGGACAACATTGACTTC	0.582000													24	64					0	0	0.076483	0	0
FGF6	2251	broad.mit.edu	37	12	4554545	4554545	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:4554545C>T	ENST00000228837.2	-	1	235	c.192G>A	c.(190-192)ggG>ggA	p.G64G		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	64					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTCCAGCTAGCCCGGCGCGAG	0.647000													4	99					0	0	0.009096	0	0
C11orf30	56946	broad.mit.edu	37	11	76171050	76171050	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:76171050A>G	ENST00000529032.1	+	5	492	c.492A>G	c.(490-492)gcA>gcG	p.A164A	C11orf30_ENST00000525038.1_Silent_p.A179A|C11orf30_ENST00000533248.1_Silent_p.A178A|C11orf30_ENST00000334736.3_Silent_p.A164A|C11orf30_ENST00000343878.3_Silent_p.A164A|C11orf30_ENST00000525919.1_Silent_p.A165A|C11orf30_ENST00000524767.1_Silent_p.A179A|C11orf30_ENST00000524490.1_Silent_p.A165A			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	164	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCAGCATAGCAACGGTTAAGT	0.448000													45	186					0	0	0.131918	0	0
DMXL2	23312	broad.mit.edu	37	15	51828461	51828461	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:51828461G>C	ENST00000251076.5	-	12	2503	c.2216C>G	c.(2215-2217)aCt>aGt	p.T739S	DMXL2_ENST00000543779.2_Missense_Mutation_p.T739S|DMXL2_ENST00000449909.3_Missense_Mutation_p.T739S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	739						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TACTCCTCCAGTGTATGACAA	0.433000													6	278					0	0	0.029380	0	0
SLC16A2	6567	broad.mit.edu	37	X	73745646	73745646	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:73745646T>C	ENST00000276033.5	+	4	1476	c.1310T>C	c.(1309-1311)aTt>aCt	p.I437T	SLC16A2_ENST00000587091.1_Missense_Mutation_p.I363T			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	363						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TTGGTGTGTATTGGGGCTACC	0.507000													5	77					0	0	0.014758	0	0
YEATS2	55689	broad.mit.edu	37	3	183446551	183446551	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:183446551C>A	ENST00000305135.5	+	7	919	c.724C>A	c.(724-726)Cgt>Agt	p.R242S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	242	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGAGGGTCCCGTAGAGAACC	0.413000													14	84					9.05144e-12	1.0575e-11	0.105934	1	0
AOC1	26	broad.mit.edu	37	7	150555947	150555947	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr7:150555947A>G	ENST00000493429.1	+	5	2251	c.1667A>G	c.(1666-1668)cAg>cGg	p.Q556R	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.Q556R|AOC1_ENST00000467291.1_Missense_Mutation_p.Q556R|AOC1_ENST00000416793.2_Missense_Mutation_p.Q556R					amine oxidase, copper containing 1																		ACTCTGGAGCAGACGCAGTAC	0.597000													9	26					0	0	0.047766	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73303217	73303217	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:73303217A>T	ENST00000258098.6	-	4	1902	c.1662T>A	c.(1660-1662)agT>agA	p.S554R	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	554					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCTCCAGCCCACTGCTCAGGG	0.622000													45	240					0	0	0.139131	0	0
OR2M2	391194	broad.mit.edu	37	1	248343458	248343458	+	Silent	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:248343458C>A	ENST00000359682.2	+	1	171	c.171C>A	c.(169-171)acC>acA	p.T57T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCTCCACACCCCCATGTACT	0.532000													71	278					3.00167e-28	3.54197e-28	0.139131	1	0
UTP18	51096	broad.mit.edu	37	17	49353345	49353345	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:49353345T>A	ENST00000225298.7	+	6	887	c.830T>A	c.(829-831)cTa>cAa	p.L277Q		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	277					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCTGTATCACTATTTCAGGTA	0.378000													5	36					0	0	0.014758	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130415459	130415459	+	Silent	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:130415459G>T	ENST00000529410.1	+	20	2162	c.1683G>T	c.(1681-1683)ccG>ccT	p.P561P	L3MBTL3_ENST00000361794.2_Silent_p.P561P|L3MBTL3_ENST00000368136.2_Silent_p.P561P|L3MBTL3_ENST00000368139.2_Silent_p.P536P|L3MBTL3_ENST00000533560.1_Silent_p.P536P|L3MBTL3_ENST00000526019.1_Silent_p.P536P			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	561					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GCTCAACCCCGGGATGTAAAG	0.443000													3	44					0.115264	0.120364	0.115264	1	0
UROD	7389	broad.mit.edu	37	1	45479706	45479706	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:45479706C>T	ENST00000246337.4	+	6	719	c.600C>T	c.(598-600)gtC>gtT	p.V200V	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	200						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					ATGCTCTGGTCCCATATCTGG	0.557000									Porphyria Cutanea Tarda, Type II				23	92					0	0	0.083992	0	0
PPFIA2	8499	broad.mit.edu	37	12	81671129	81671129	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:81671129T>C	ENST00000550584.2	-	27	3572	c.3277A>G	c.(3277-3279)Aga>Gga	p.R1093G	PPFIA2_ENST00000541570.2_Missense_Mutation_p.R629G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1072G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R279G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R940G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1081G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R988G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1087G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1078G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R992G|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R1093G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	992										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCCGTCTTCTTTCTAGTTCT	0.289000													3	8					0	0	0.115264	0	0
ZNF397	84307	broad.mit.edu	37	18	32822516	32822516	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr18:32822516G>T	ENST00000330501.7	+	2	235	c.82G>T	c.(82-84)Gat>Tat	p.D28Y	ZNF397_ENST00000585800.1_Missense_Mutation_p.D28Y|ZNF397_ENST00000591206.1_Missense_Mutation_p.D28Y|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000592264.1_Missense_Mutation_p.D28Y|ZNF397_ENST00000261333.6_Missense_Mutation_p.D28Y|ZNF397_ENST00000355632.4_Missense_Mutation_p.D28Y	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	28					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						GAAAGTAGAAGATAACTTTTC	0.413000													13	89					7.93312e-07	9.00104e-07	0.119110	1	0
SAGE1	55511	broad.mit.edu	37	X	134978476	134978476	+	Silent	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:134978476A>C	ENST00000535938.1	+	2	242	c.75A>C	c.(73-75)acA>acC	p.T25T	SAGE1_ENST00000537770.1_Silent_p.T25T|SAGE1_ENST00000324447.3_Silent_p.T25T|SAGE1_ENST00000370709.3_Silent_p.T25T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	25										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGTGTTTACAAATGATGGGC	0.368000													15	47					0	0	0.132662	0	0
PRPF8	10594	broad.mit.edu	37	17	1577101	1577101	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:1577101T>A	ENST00000572621.1	-	21	3650	c.3385A>T	c.(3385-3387)Aat>Tat	p.N1129Y	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1129Y			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1129						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCTTGTTATTATAGCCAACG	0.507000													34	126					0	0	0.054565	0	0
UBE2D2	7322	broad.mit.edu	37	5	139003010	139003010	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:139003010C>T	ENST00000253815.2	+	7	1152	c.275C>T	c.(274-276)cCt>cTt	p.P92L	UBE2D2_ENST00000398733.3_Missense_Mutation_p.P121L|UBE2D2_ENST00000505548.1_Missense_Mutation_p.P92L|UBE2D2_ENST00000511725.1_Missense_Mutation_p.P92L	NM_181838.1	NP_862821.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	121					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTTTAGTGCCTGAGATTGCT	0.383000													14	81					0	0	0.119110	0	0
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr13:98658520C>T	ENST00000261574.5	+	17	1868	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	545					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378000													4	119					0	0	0.014758	0	0
MTOR	2475	broad.mit.edu	37	1	11217304	11217305	+	In_Frame_Ins	INS	-	-	TCCTCCCAC			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:11217304_11217305insTCCTCCCAC	ENST00000361445.4	-	30	4449_4450	c.4373_4374insGTGGGAGGA	c.(4372-4374)ggc>gGTGGGAGGAgc	p.1458_1459insGRS		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1458	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCACAAGGGCATCCTCCCACTC	0.540													8	142	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12336924	12336926	+	In_Frame_Del	DEL	GAT	GAT	-	rs144696813		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:12336924_12336926delGAT	ENST00000358136.3	+	19	3409_3411	c.3279_3281delGAT	c.(3277-3282)tcg>tc	p.SM1093del	VPS13D_ENST00000356315.4_In_Frame_Del_p.SM1093del	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1093					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGCCCATCGATGAATTTAGAC	0.379													44	158	---	---	---	---					
COL9A2	1298	broad.mit.edu	37	1	40768483	40768484	+	Splice_Site	INS	-	-	GGAG	rs3831927	by1000genomes	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:40768483_40768484insGGAG	ENST00000372748.3	-	30	1700		c.e30-2		COL9A2_ENST00000466267.1_Splice_Site	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGTTGCTCTggagggaggga	0.649													3	3	---	---	---	---					
TRMT1L	81627	broad.mit.edu	37	1	185112523	185112523	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:185112523delT	ENST00000367504.3	-	7	1096	c.357delA	c.(355-357)aafs	p.K119fs	TRMT1L_ENST00000367506.5_Frame_Shift_Del_p.K275fs			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	275						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ATTCCAAAGGTTTTCGTTCCT	0.358													26	146	---	---	---	---					
PXK	54899	broad.mit.edu	37	3	58381438	58381438	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:58381438delG	ENST00000463280.1	+	7	766	c.675delG	c.(673-675)cafs	p.Q225fs	PXK_ENST00000383715.4_Frame_Shift_Del_p.Q241fs|PXK_ENST00000383716.3_Frame_Shift_Del_p.Q225fs|PXK_ENST00000484288.1_Frame_Shift_Del_p.Q258fs|PXK_ENST00000356151.2_Frame_Shift_Del_p.Q258fs|PXK_ENST00000302779.5_Frame_Shift_Del_p.Q241fs|PXK_ENST00000479241.1_Frame_Shift_Del_p.Q241fs|PXK_ENST00000536660.1_Frame_Shift_Del_p.Q121fs			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	258	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGAAGATTCAGGGCCTGGAAC	0.388													29	80	---	---	---	---					
SLC15A2	6565	broad.mit.edu	37	3	121647902	121647903	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:121647902_121647903insT	ENST00000489711.1	+	16	1803_1804	c.1415_1416insT	c.(1414-1416)attfs	p.I472fs	SLC15A2_ENST00000295605.2_Frame_Shift_Ins_p.I441fs|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	472					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AAATATCACAATTTGTCTCTCT	0.386													64	231	---	---	---	---					
TNIK	23043	broad.mit.edu	37	3	170846555	170846555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:170846555delC	ENST00000436636.2	-	16	2065	c.1721delG	c.(1720-1722)atfs	p.S574fs	TNIK_ENST00000460047.1_Intron|TNIK_ENST00000369326.5_Frame_Shift_Del_p.S545fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.S545fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.S574fs|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Frame_Shift_Del_p.S545fs|TNIK_ENST00000341852.6_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	574	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGAACTCCACTAATGCTGAA	0.552													9	44	---	---	---	---					
SH3PXD2B	285590	broad.mit.edu	37	5	171766891	171766891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:171766891delC	ENST00000311601.5	-	13	1388	c.1218delG	c.(1216-1218)tgfs	p.W406fs	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	406	SH3 3.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGAATGTACCACCAGCCAC	0.532													7	44	---	---	---	---					
CNTLN	54875	broad.mit.edu	37	9	17466109	17466109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:17466109delA	ENST00000380647.3	+	22	3746	c.3662delA	c.(3661-3663)gafs	p.E1221fs	CNTLN_ENST00000425824.1_Frame_Shift_Del_p.E1221fs|CNTLN_ENST00000262360.5_Frame_Shift_Del_p.E1221fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1221						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGGAGTTAGAAAAAAAGGTA	0.308													14	68	---	---	---	---					
GAPVD1	26130	broad.mit.edu	37	9	128099797	128099797	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:128099797delT	ENST00000470056.1	+	15	2964	c.2804delT	c.(2803-2805)atfs	p.I935fs	GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.I909fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.I914fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.I962fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.I914fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	935					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCTGCAGCCATTGGTGCTACT	0.522													17	81	---	---	---	---					
MAPKAP1	79109	broad.mit.edu	37	9	128246809	128246810	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:128246809_128246810delCT	ENST00000265960.3	-	9	1451_1452	c.1119_1120delAG	c.(1117-1122)actafs	p.TV373fs	MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000350766.3_Frame_Shift_Del_p.TV337fs|MAPKAP1_ENST00000373503.3_Frame_Shift_Del_p.TV181fs|MAPKAP1_ENST00000373498.1_Frame_Shift_Del_p.TV373fs|MAPKAP1_ENST00000373497.5_Frame_Shift_Del_p.TV86fs|MAPKAP1_ENST00000394063.1_Frame_Shift_Del_p.TV181fs	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	373					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATATCCTGTACTGTGGCTATGT	0.470													10	91	---	---	---	---					
PLXDC2	84898	broad.mit.edu	37	10	20465934	20465936	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:20465934_20465936delGAA	ENST00000377252.3	+	8	1731_1733	c.890_892delGAA	c.(889-894)cga>c	p.RR297del	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_In_Frame_Del_p.RR248del	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	297						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTAGATGTTCGAAGAAGAACAAT	0.320													14	101	---	---	---	---					
FAM83F	113828	broad.mit.edu	37	22	40417856	40417856	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr22:40417856delA	ENST00000333407.5	+	4	1436	c.1342delA	c.(1342-1344)agfs	p.K448fs	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	448										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TCGCCGAGCCAAGAGGCCTGC	0.667													17	82	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	7	---	---	---	---					
GPRASP1	9737	broad.mit.edu	37	X	101911485	101911487	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:101911485_101911487delGAA	ENST00000537097.1	+	6	3457_3459	c.2644_2646delGAA	c.(2644-2646)del	p.E884del	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_In_Frame_Del_p.E884del|GPRASP1_ENST00000444152.1_In_Frame_Del_p.E884del|GPRASP1_ENST00000361600.5_In_Frame_Del_p.E884del	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	884	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTTCTGGCCTGAAGAAGAAGCCA	0.527													39	147	---	---	---	---