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
ARMC12	221481	broad.mit.edu	37	6	35716341	35716341	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:35716341C>G	ENST00000373866.3	+	6	739	c.717C>G	c.(715-717)ttC>ttG	p.F239L	ARMC12_ENST00000288065.2_Missense_Mutation_p.F266L|ARMC12_ENST00000373869.3_Intron			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	239							binding										TAAACCTGTTCCAGCCCACAC	0.488000													6	61					0	0	0.001984	0	0
DDR1	780	broad.mit.edu	37	6	30862337	30862337	+	Missense_Mutation	SNP	G	G	A	rs145788270		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:30862337G>A	ENST00000324771.8	+	13	1950	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	DDR1_ENST00000452441.1_Missense_Mutation_p.D468N|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376568.3_Missense_Mutation_p.D468N|DDR1_ENST00000376567.2_Missense_Mutation_p.D468N|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Missense_Mutation_p.D468N|DDR1_ENST00000508312.1_Missense_Mutation_p.D486N|DDR1_ENST00000376570.4_Missense_Mutation_p.D468N|DDR1_ENST00000513240.1_Missense_Mutation_p.D468N|DDR1_ENST00000454612.2_Missense_Mutation_p.D468N|DDR1_ENST00000418800.2_Missense_Mutation_p.D468N|DDR1_ENST00000376569.3_Missense_Mutation_p.D468N			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	468					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTCCCTGGGGACACTATCCT	0.627000													6	101					0	0	0.001168	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325934	15325934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:15325934C>T	ENST00000378116.4	-	2	274	c.268G>A	c.(268-270)Gcc>Acc	p.A90T		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	90						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGCTTCGAGGCGGTGACAATC	0.542000													12	181					0	0	0.010729	0	0
ATP10D	57205	broad.mit.edu	37	4	47584075	47584075	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:47584075G>A	ENST00000273859.3	+	21	4016	c.3747G>A	c.(3745-3747)aaG>aaA	p.K1249K	ATP10D_ENST00000512393.1_3'UTR	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1249					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGAAAGCAAGAGTTTGGTGA	0.448000													16	125					0	0	0.004990	0	0
ZHX3	23051	broad.mit.edu	37	20	39833262	39833262	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr20:39833262C>T	ENST00000309060.3	-	4	710	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ZHX3_ENST00000544979.2_Missense_Mutation_p.E99K|ZHX3_ENST00000432768.2_Missense_Mutation_p.E99K|ZHX3_ENST00000557816.1_Missense_Mutation_p.E99K|ZHX3_ENST00000540170.1_Missense_Mutation_p.E99K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E99K|ZHX3_ENST00000560361.1_Missense_Mutation_p.E99K|ZHX3_ENST00000558993.1_Missense_Mutation_p.E99K			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	99	Required for nuclear localization.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCTGTGTGCTCTGAGTTCATA	0.443000													5	136					0	0	0.001168	0	0
CPM	1368	broad.mit.edu	37	12	69265567	69265567	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:69265567C>T	ENST00000551568.1	-	4	488	c.428G>A	c.(427-429)gGa>gAa	p.G143E	CPM_ENST00000546373.1_Missense_Mutation_p.G143E|CPM_ENST00000338356.3_Missense_Mutation_p.G143E	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	143					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTTTACCTTCCGATGCTGTA	0.463000													19	100					0	0	0.010504	0	0
CSF1R	1436	broad.mit.edu	37	5	149434896	149434896	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:149434896A>G	ENST00000286301.3	-	20	2849	c.2558T>C	c.(2557-2559)cTg>cCg	p.L853P		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	853	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTAGGGATTCAGCCCTGCAAA	0.507000													3	99					0	0	0.004672	0	0
C18orf54	162681	broad.mit.edu	37	18	51900620	51900620	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:51900620G>A	ENST00000300091.5	+	7	1344	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	C18orf54_ENST00000578138.1_Missense_Mutation_p.E117K|C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000382911.4_Missense_Mutation_p.E499K	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	338						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ACAGTTGAAGGAAAGTATGAT	0.249000													3	43					0	0	0.009096	0	0
ANKHD1	54882	broad.mit.edu	37	5	139914968	139914968	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:139914968C>G	ENST00000297183.6	+	30	6996	c.6872C>G	c.(6871-6873)tCa>tGa	p.S2291*	ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.S2291*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.S2291*|ANKHD1_ENST00000544120.1_Intron	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGACCCATCAGGCAGCTCC	0.473000													10	162					0	0	0.013537	0	0
SCYL2	55681	broad.mit.edu	37	12	100731227	100731227	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:100731227G>A	ENST00000360820.2	+	17	2525	c.2088G>A	c.(2086-2088)ctG>ctA	p.L696L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	696					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CACAGAAGCTGAAAAGCCAGC	0.378000													7	69					0	0	0.001984	0	0
PCBP1	5093	broad.mit.edu	37	2	70314888	70314888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:70314888G>A	ENST00000303577.5	+	1	304	c.13G>A	c.(13-15)Gtg>Atg	p.V5M	PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	5					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GGATGCCGGTGTGACTGAAAG	0.587000													10	63					0	0	0.013537	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555115	44555115	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:44555115G>A	ENST00000330682.2	-	1	1334	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	367	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CACCCTTCCAGAACGGGTTCA	0.607000													22	1463					0	0	0.006122	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110486316	110486316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:110486316G>A	ENST00000260283.4	-	6	790	c.506C>T	c.(505-507)tCt>tTt	p.S169F	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S143F|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S133F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S133F|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S146F|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S143F	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	169	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTGTTCTGGAGAACTGCAATC	0.299000													9	66					0	0	0.008291	0	0
MINK1	50488	broad.mit.edu	37	17	4799524	4799524	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:4799524G>T	ENST00000355280.6	+	29	3698	c.3502G>T	c.(3502-3504)Gac>Tac	p.D1168Y	MINK1_ENST00000453408.3_Missense_Mutation_p.D1148Y|MINK1_ENST00000347992.7_Missense_Mutation_p.D1139Y	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1168	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTGCTGGTCGACCTGACAGT	0.627000											OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	53					0.00116845	0.00126528	0.001168	1	0
FREM1	158326	broad.mit.edu	37	9	14746434	14746434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:14746434C>T	ENST00000380881.4	-	36	6989	c.6174G>A	c.(6172-6174)tgG>tgA	p.W2058*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.W2057*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.W593*|FREM1_ENST00000380880.3_Nonsense_Mutation_p.W2057*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2057					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTGCTGGTGCCACCCGGCTG	0.493000													4	135					0	0	0.009096	0	0
SPEG	10290	broad.mit.edu	37	2	220337647	220337647	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:220337647G>A	ENST00000312358.7	+	16	4108	c.3976G>A	c.(3976-3978)Gtg>Atg	p.V1326M	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1326	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGCACCAGGTGCTGGGCTC	0.662000													21	15					0	0	0.002780	0	0
DHX9	1660	broad.mit.edu	37	1	182841625	182841625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:182841625C>T	ENST00000367549.3	+	15	1821	c.1711C>T	c.(1711-1713)Caa>Taa	p.Q571*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	571					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTACCCAGTTCAAGGTAATAT	0.358000													7	109					0	0	0.003080	0	0
NLRP8	126205	broad.mit.edu	37	19	56466505	56466505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:56466505G>T	ENST00000291971.3	+	3	1152	c.1081G>T	c.(1081-1083)Gaa>Taa	p.E361*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.E361*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	361	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAATACGATGGAAAAAATCAA	0.463000													25	56					5.35356e-11	6.20886e-11	0.002780	1	0
SLC7A2	6542	broad.mit.edu	37	8	17406258	17406258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:17406258C>T	ENST00000470360.1	+	6	841	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	SLC7A2_ENST00000494857.1_Missense_Mutation_p.L202F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L242F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L242F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L202F			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	202					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TATTCTCGTCCTTCTGTTTGT	0.368000													5	124					0	0	0.001984	0	0
PDE4D	5144	broad.mit.edu	37	5	58270597	58270597	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:58270597G>C	ENST00000340635.6	-	15	2499	c.2324C>G	c.(2323-2325)tCt>tGt	p.S775C	PDE4D_ENST00000360047.5_Missense_Mutation_p.S639C|PDE4D_ENST00000546160.1_Missense_Mutation_p.S714C|PDE4D_ENST00000503258.1_Missense_Mutation_p.S645C|PDE4D_ENST00000317118.8_Missense_Mutation_p.S484C|PDE4D_ENST00000507116.1_Missense_Mutation_p.S711C|PDE4D_ENST00000405755.2_Missense_Mutation_p.S653C|PDE4D_ENST00000358923.6_Missense_Mutation_p.S473C|PDE4D_ENST00000502484.2_Missense_Mutation_p.S714C	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	775					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AATTTCAGTAGACTCTGAGTC	0.488000													6	362					0	0	0.001168	0	0
KAT7	11143	broad.mit.edu	37	17	47893222	47893222	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:47893222G>A	ENST00000503935.2	+	8	1478	c.442G>A	c.(442-444)Gag>Aag	p.E148K	KAT7_ENST00000454930.2_Missense_Mutation_p.E165K|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000510819.1_Missense_Mutation_p.E135K|KAT7_ENST00000259021.4_Missense_Mutation_p.E304K|KAT7_ENST00000435742.2_Missense_Mutation_p.E118K|KAT7_ENST00000424009.2_Missense_Mutation_p.E274K|KAT7_ENST00000509773.1_Missense_Mutation_p.E194K			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	304					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										CCTGACAAGCGAGTATGACTT	0.463000													14	95					0	0	0.004990	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													6	57					0	0	0.001168	0	0
LRP12	29967	broad.mit.edu	37	8	105503599	105503599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:105503599C>T	ENST00000276654.5	-	7	1990	c.1882G>A	c.(1882-1884)Gtt>Att	p.V628I	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.V609I	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	628					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTAGGGACAACCTCATCTCCA	0.428000													14	67					0	0	0.003163	0	0
ADD3	120	broad.mit.edu	37	10	111893106	111893106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:111893106G>C	ENST00000277900.8	+	14	2120	c.1755G>C	c.(1753-1755)aaG>aaC	p.K585N	ADD3_ENST00000356080.4_Missense_Mutation_p.K617N|ADD3_ENST00000360162.3_Missense_Mutation_p.K585N	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	617						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TGTTTTCCAAGAGCTTCATCT	0.393000													14	90					0	0	0.002450	0	0
LRP1	4035	broad.mit.edu	37	12	57597024	57597024	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:57597024G>T	ENST00000243077.3	+	69	11238	c.10772G>T	c.(10771-10773)cGc>cTc	p.R3591L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3591	LDL-receptor class A 27.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCGCGGGGCGCTGGAAATGC	0.672000													6	30					0.00116845	0.00126528	0.001168	1	0
OTP	23440	broad.mit.edu	37	5	76932777	76932777	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:76932777G>T	ENST00000306422.3	-	2	1454	c.316C>A	c.(316-318)Cgc>Agc	p.R106S	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GTCCGGTGGCGCTTCTGCTTC	0.667000													76	83					9.35349e-44	1.11786e-43	0.014410	1	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	23					0	0	0.000602	0	0
DNAJC16	23341	broad.mit.edu	37	1	15870967	15870967	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:15870967C>T	ENST00000375847.3	+	5	812	c.648C>T	c.(646-648)ccC>ccT	p.P216P	DNAJC16_ENST00000375849.1_Silent_p.P216P|DNAJC16_ENST00000375838.1_Silent_p.P216P	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	216	Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACAGCACGCCCTCTATCCTAG	0.478000													33	24					0	0	0.013726	0	0
KMT2C	58508	broad.mit.edu	37	7	151864343	151864343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:151864343G>A	ENST00000355193.2	-	42	9856	c.9638C>T	c.(9637-9639)tCa>tTa	p.S3213L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S3213L					lysine (K)-specific methyltransferase 2C																		TTGTTTAGCTGAAAGGGCCTT	0.443000													10	101					0	0	0.008291	0	0
ACTN3	89	broad.mit.edu	37	11	66330384	66330384	+	RNA	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:66330384G>C	ENST00000513398.1	+	0	2603				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGACACGACTGAGCAAGTTGT	0.602000													8	109					0	0	0.003080	0	0
USP26	83844	broad.mit.edu	37	X	132160985	132160985	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:132160985C>T	ENST00000511190.1	-	6	1733	c.1264G>A	c.(1264-1266)Gct>Act	p.A422T	USP26_ENST00000406273.1_Missense_Mutation_p.A422T|USP26_ENST00000370832.1_Missense_Mutation_p.A422T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	422					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGATCATCAGCAAAAACCTGT	0.373000													18	70					0	0	0.004990	0	0
ZNF672	79894	broad.mit.edu	37	1	249142538	249142538	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:249142538C>T	ENST00000306562.3	+	4	1811	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAATCTCAACGTGCATCGGC	0.647000													4	22					0	0	0.009096	0	0
NFX1	4799	broad.mit.edu	37	9	33342807	33342807	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:33342807G>A	ENST00000379540.3	+	13	2241	c.2179G>A	c.(2179-2181)Gaa>Aaa	p.E727K	NFX1_ENST00000379521.4_Missense_Mutation_p.E727K|NFX1_ENST00000318524.6_Missense_Mutation_p.E727K	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	727					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCATAGGTGTGAAGAACCTTG	0.398000													14	29					0	0	0.004007	0	0
GDF15	9518	broad.mit.edu	37	19	18499744	18499744	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:18499744G>C	ENST00000252809.3	+	2	958	c.926G>C	c.(925-927)tGa>tCa	p.*309S		NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	0					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CACTGCATATGAGCAGTCCTG	0.572000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	78					0	0	0.007413	0	0
RBM26	64062	broad.mit.edu	37	13	79945293	79945293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:79945293G>A	ENST00000438737.2	-	5	861	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	RBM26_ENST00000267229.7_Missense_Mutation_p.R141C|RBM26_ENST00000438724.1_Missense_Mutation_p.R141C			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	141	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTCTCATCACGGCTTCTAAAG	0.338000													10	118					0	0	0.006214	0	0
DNAH7	56171	broad.mit.edu	37	2	196664028	196664028	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:196664028C>T	ENST00000312428.6	-	55	10445	c.10345G>A	c.(10345-10347)Gat>Aat	p.D3449N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3449	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCTGGTCATCAGCAAATTTT	0.388000													21	90					0	0	0.012319	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507499	74507499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:74507499C>A	ENST00000354431.4	-	7	1307	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E372D	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	372										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTTGTTTTTTCTCTCTCAATA	0.338000													14	51					9.16793e-09	1.03868e-08	0.004990	1	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240729	39240729	+	Missense_Mutation	SNP	A	A	G	rs148949542	by1000genomes	TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:39240729A>G	ENST00000391417.4	+	1	271	c.271A>G	c.(271-273)Atg>Gtg	p.M91V		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgtatgtccagctg	0.677000													3	38					0	0	0.000602	0	0
SMC1A	8243	broad.mit.edu	37	X	53436075	53436075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:53436075C>T	ENST00000322213.4	-	9	1590	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SMC1A_ENST00000375340.6_Missense_Mutation_p.R254H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	488					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCGGTCGATGCGGGCATCCCC	0.567000													4	93					0	0	0.001168	0	0
VPS51	738	broad.mit.edu	37	11	64875072	64875072	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:64875072G>A	ENST00000279281.3	+	3	470	c.378G>A	c.(376-378)aaG>aaA	p.K126K	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		GGAAGATGAAGAACGATTTCC	0.622000													13	45					0	0	0.001855	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075629	106075629	+	Silent	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:106075629G>T	ENST00000278071.2	-	3	633	c.181C>A	c.(181-183)Cgg>Agg	p.R61R	ITPRIP_ENST00000358187.2_Silent_p.R61R|ITPRIP_ENST00000337478.1_Silent_p.R61R	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	61						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCCGCCAGCCGAGCCACCTCC	0.662000													20	88					1.40151e-16	1.66482e-16	0.010504	1	0
DENND4A	10260	broad.mit.edu	37	15	65983668	65983668	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:65983668G>A	ENST00000443035.3	-	23	3476	c.3261C>T	c.(3259-3261)ctC>ctT	p.L1087L	DENND4A_ENST00000431932.2_Silent_p.L1044L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1044					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAATTCTATTGAGCATAAATC	0.383000													5	57					0	0	0.001168	0	0
KLK10	5655	broad.mit.edu	37	19	51522384	51522384	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:51522384C>T	ENST00000309958.3	-	2	221	c.3G>A	c.(1-3)atG>atA	p.M1I	KLK10_ENST00000391805.1_Start_Codon_SNP_p.M1I|KLK10_ENST00000358789.3_Start_Codon_SNP_p.M1I	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	1					cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCGGAGCTCTCATGGCCAGGA	0.687000													4	16					0	0	0.009096	0	0
GATAD2A	54815	broad.mit.edu	37	19	19613328	19613328	+	Silent	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:19613328C>A	ENST00000404158.1	+	13	2185	c.1767C>A	c.(1765-1767)ctC>ctA	p.L589L	GATAD2A_ENST00000537887.1_Silent_p.L217L|GATAD2A_ENST00000358713.3_Silent_p.L588L|GATAD2A_ENST00000252577.5_Silent_p.L563L|GATAD2A_ENST00000360315.3_Silent_p.L588L|GATAD2A_ENST00000429563.2_Silent_p.L391L			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	588					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGACGCCCCTCAGCACAGGTG	0.637000													16	86					3.45872e-05	3.87376e-05	0.004007	1	0
CHD2	1106	broad.mit.edu	37	15	93547859	93547859	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:93547859G>T	ENST00000394196.4	+	34	5359	c.4291G>T	c.(4291-4293)Gat>Tat	p.D1431Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D1431Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1431					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TAAAAGTGGTGATGCCAAATC	0.403000													7	132					0.00307968	0.00331658	0.003080	1	0
RBMS3	27303	broad.mit.edu	37	3	30032585	30032585	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:30032585G>A	ENST00000434693.2	+	14	1889	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	RBMS3_ENST00000383767.2_Missense_Mutation_p.D398N|RBMS3_ENST00000383766.2_Missense_Mutation_p.D380N|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000396583.3_Missense_Mutation_p.D395N|RBMS3_ENST00000456853.1_Missense_Mutation_p.D395N|RBMS3_ENST00000452462.1_Missense_Mutation_p.D382N|RBMS3_ENST00000273139.9_Missense_Mutation_p.D382N	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	398						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TGTTGTTGCTGATACCTCTCC	0.488000													4	63					0	0	0.009096	0	0
ARID1A	8289	broad.mit.edu	37	1	27099361	27099361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:27099361C>T	ENST00000324856.7	+	14	3969	c.3598C>T	c.(3598-3600)Cag>Tag	p.Q1200*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q817*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1200*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1200					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCCACATTCCAGAAGCGGAA	0.458000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								27	31					0	0	0.003954	0	0
BECN1	8678	broad.mit.edu	37	17	40971588	40971588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:40971588G>A	ENST00000361523.4	-	4	370	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	BECN1_ENST00000438274.3_Missense_Mutation_p.R80C|BECN1_ENST00000590099.1_Missense_Mutation_p.R80C	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	80					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ATGAATCTGCGAGAGACACCA	0.483000											OREG0024429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	46					0	0	0.001984	0	0
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:15323347T>C	ENST00000455308.2	-	0	501					NR_027417.1																						CCAATAAAAGTGGTGTGTGGC	0.303000													4	7					0	0	0.000602	0	0
COL19A1	1310	broad.mit.edu	37	6	70909320	70909320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:70909320G>A	ENST00000322773.4	+	49	3205	c.3103G>A	c.(3103-3105)Gct>Act	p.A1035T	COL19A1_ENST00000393344.1_Missense_Mutation_p.A657T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1035					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGAGAGGATGGCTGTATTCCT	0.413000													16	38					0	0	0.003163	0	0
RXFP3	51289	broad.mit.edu	37	5	33937955	33937955	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:33937955G>A	ENST00000330120.3	+	1	1465	c.1110G>A	c.(1108-1110)gcG>gcA	p.A370A		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	370						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGGTATACGCGTTCCCTGTGA	0.617000													23	104					0	0	0.003954	0	0
MAST4	375449	broad.mit.edu	37	5	66459603	66459603	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:66459603G>A	ENST00000404260.3	+	29	4913	c.4605G>A	c.(4603-4605)ctG>ctA	p.L1535L	MAST4_ENST00000261569.7_Silent_p.L1338L|MAST4_ENST00000403666.1_Silent_p.L1343L|MAST4_ENST00000403625.2_Silent_p.L1532L|MAST4_ENST00000405643.1_Silent_p.L1353L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1535						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCGACAAGCTGAAGGCCAAGG	0.607000													3	11					0	0	0.004672	0	0
CORO2B	10391	broad.mit.edu	37	15	68987486	68987486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:68987486G>A	ENST00000543950.1	+	3	563	c.209G>A	c.(208-210)aGg>aAg	p.R70K	CORO2B_ENST00000566799.1_Missense_Mutation_p.R75K|CORO2B_ENST00000261861.5_Missense_Mutation_p.R70K|CORO2B_ENST00000540068.1_Missense_Mutation_p.R70K	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	75					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAGACAGGCAGGATTGAACCC	0.532000													24	87					0	0	0.003330	0	0
SPHK2	56848	broad.mit.edu	37	19	49132875	49132875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:49132875G>A	ENST00000443164.1	+	5	2701	c.1996G>A	c.(1996-1998)Gcg>Acg	p.A666T	SPHK2_ENST00000599748.1_Missense_Mutation_p.A568T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A545T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A604T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A566T|SPHK2_ENST00000599029.1_Missense_Mutation_p.A568T|SPHK2_ENST00000245222.4_Missense_Mutation_p.A604T			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	604					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGCTACGCCGCGGCCCGTGC	0.687000													4	10					0	0	0.001168	0	0
FARSB	10056	broad.mit.edu	37	2	223464733	223464733	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:223464733A>G	ENST00000281828.6	-	16	1795	c.1532T>C	c.(1531-1533)aTt>aCt	p.I511T	FARSB_ENST00000536361.1_Missense_Mutation_p.I412T	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	511					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CAGCCCATGAATGATCTCAAA	0.433000													24	67					0	0	0.002780	0	0
RYR2	6262	broad.mit.edu	37	1	237729962	237729962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:237729962G>T	ENST00000366574.2	+	28	3627	c.3310G>T	c.(3310-3312)Gaa>Taa	p.E1104*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1088*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1102*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1104	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGTATTTTGAATTTGAGAC	0.567000													26	124					8.24728e-16	9.73776e-16	0.004656	1	0
CAMTA2	23125	broad.mit.edu	37	17	4883529	4883529	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:4883529T>C	ENST00000361571.5	-	8	1496	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	CAMTA2_ENST00000358183.4_Missense_Mutation_p.E363G|CAMTA2_ENST00000381311.5_Missense_Mutation_p.E365G|CAMTA2_ENST00000348066.3_Missense_Mutation_p.E363G|CAMTA2_ENST00000572543.1_Missense_Mutation_p.E368G|CAMTA2_ENST00000414043.3_Missense_Mutation_p.E386G	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	363					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGCAGAAGGCTCAGTGCCTAC	0.617000													24	24					0	0	0.003954	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23191865	23191865	+	RNA	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:23191865C>T	ENST00000400153.2	-	0	1831					NR_003521.1																						ACGAGAATATCTTATGCTTTC	0.423000													13	35					0	0	0.006122	0	0
SFXN2	118980	broad.mit.edu	37	10	104491933	104491933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:104491933C>T	ENST00000369893.5	+	8	846	c.679C>T	c.(679-681)Caa>Taa	p.Q227*		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2						iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGCATCACCCAAGTAGTTAT	0.532000													37	71					0	0	0.004878	0	0
PIBF1	10464	broad.mit.edu	37	13	73539485	73539485	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:73539485G>C	ENST00000326291.6	+	15	2245	c.1907G>C	c.(1906-1908)aGa>aCa	p.R636T		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	636						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTGCGTCAGAGAGATTCTAAG	0.353000													9	95					0	0	0.006214	0	0
PTPN14	5784	broad.mit.edu	37	1	214557839	214557839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:214557839C>G	ENST00000366956.5	-	13	1553	c.1359G>C	c.(1357-1359)aaG>aaC	p.K453N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	453					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGATCCCCCTCTTCATCTGGC	0.572000													45	171					0	0	0.010771	0	0
RIN3	79890	broad.mit.edu	37	14	93125804	93125804	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:93125804C>T	ENST00000216487.7	+	7	2484	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	775	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCATGGCCCTCGGCAACCCAG	0.582000													10	108					0	0	0.008291	0	0
PPFIA4	8497	broad.mit.edu	37	1	203018835	203018835	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:203018835G>A	ENST00000367240.2	+	12	1915	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PPFIA4_ENST00000414050.2_Missense_Mutation_p.R191H|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R488H|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	0	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAGAAGCTGCGCCAAGAGGTG	0.692000													9	6					0	0	0.004482	0	0
NCOR2	9612	broad.mit.edu	37	12	124821373	124821373	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:124821373G>A	ENST00000356219.3	-	39	6217	c.6062C>T	c.(6061-6063)tCg>tTg	p.S2021L	NCOR2_ENST00000405201.1_Missense_Mutation_p.S2014L|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1575L|NCOR2_ENST00000404621.1_Missense_Mutation_p.S2004L|NCOR2_ENST00000429285.2_Missense_Mutation_p.S2004L|NCOR2_ENST00000397355.1_Missense_Mutation_p.S2005L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2025					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCCGAGGCCGAGGCAGGTGG	0.652000													9	68					0	0	0.006214	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417944	150417944	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:150417944C>T	ENST00000307194.5	+	3	992	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGGGCGCGCTCCTGT	0.687000													4	21					0	0	0.009096	0	0
LHX9	56956	broad.mit.edu	37	1	197890578	197890578	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:197890578C>T	ENST00000367390.3	+	4	522	c.495C>T	c.(493-495)ttC>ttT	p.F165F	LHX9_ENST00000337020.2_Silent_p.F174F|LHX9_ENST00000367387.4_Silent_p.F174F|LHX9_ENST00000367391.1_Silent_p.F165F|LHX9_ENST00000561173.1_Silent_p.F180F	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	174	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCGACCATTTCGGCATGAAGG	0.612000													12	45					0	0	0.001855	0	0
ASMTL	8623	broad.mit.edu	37	X	1553955	1553955	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:1553955G>A	ENST00000534940.1	-	5	411	c.186C>T	c.(184-186)agC>agT	p.S62S	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Silent_p.S44S|ASMTL_ENST00000381317.3_Silent_p.S120S|ASMTL_ENST00000381333.4_Silent_p.S104S	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	120	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGTGAACACGCTGTGTTCTC	0.587000													6	96					0	0	0.003080	0	0
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662000													5	38					0.000602214	0.000663112	0.000602	1	0
SH3D19	152503	broad.mit.edu	37	4	152086849	152086849	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:152086849C>T	ENST00000409598.4	-	8	1862		c.e8-1		SH3D19_ENST00000304527.4_Splice_Site|SH3D19_ENST00000409252.2_Splice_Site|SH3D19_ENST00000427414.2_Intron|SH3D19_ENST00000514152.1_Splice_Site|SH3D19_ENST00000455740.1_Splice_Site|SH3D19_ENST00000424281.1_Intron			Q5HYK7	SH319_HUMAN	SH3 domain containing 19						cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGAAAGGGATCTAATGAAAAA	0.393000													11	87					0	0	0.008291	0	0
ZNF99	7652	broad.mit.edu	37	19	22939368	22939368	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:22939368T>C	ENST00000397104.3	-	7	2802	c.2803A>G	c.(2803-2805)Aaa>Gaa	p.K935E						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTGATTTATGTTTAGTA	0.373000													15	38					0	0	0.004007	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348346	89348346	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr16:89348346T>C	ENST00000301030.4	-	9	5064	c.4604A>G	c.(4603-4605)aAg>aGg	p.K1535R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1535R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1535	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCACCGTCCTTGAATTTCTC	0.597000													3	84					0	0	0.004672	0	0
MLLT6	4302	broad.mit.edu	37	17	36874167	36874167	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:36874167G>A	ENST00000325718.7	+	12	1994	c.1903G>A	c.(1903-1905)Gtt>Att	p.V635I	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	635					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CATGGGTGCCGTTAATCCCCT	0.557000			T	MLL	AL								6	170					0	0	0.001984	0	0
TMEM215	401498	broad.mit.edu	37	9	32784282	32784282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:32784282G>A	ENST00000342743.5	+	2	466	c.101G>A	c.(100-102)gGg>gAg	p.G34E		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	34						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GGGATGAAAGGGGAGACTTTG	0.592000													25	64					0	0	0.002780	0	0
UBQLN2	29978	broad.mit.edu	37	X	56590917	56590917	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:56590917T>C	ENST00000338222.5	+	1	892	c.611T>C	c.(610-612)cTc>cCc	p.L204P		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	204						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATGAGGCAGCTCATTATGGCT	0.453000													40	43					0	0	0.006230	0	0
NAT1	9	broad.mit.edu	37	8	18079981	18079981	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:18079981A>G	ENST00000539092.1	+	5	1116	c.425A>G	c.(424-426)gAt>gGt	p.D142G	NAT1_ENST00000307719.4_Missense_Mutation_p.D142G|NAT1_ENST00000541942.1_Missense_Mutation_p.D142G|NAT1_ENST00000535084.1_Missense_Mutation_p.D142G|NAT1_ENST00000520546.1_Missense_Mutation_p.D142G|NAT1_ENST00000517492.1_Missense_Mutation_p.D142G|NAT1_ENST00000518029.1_Missense_Mutation_p.D142G|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Missense_Mutation_p.D204G	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	142					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TCTGGGAAGGATCAGCCTCAG	0.473000													4	121					0	0	0.009096	0	0
DHRS7	51635	broad.mit.edu	37	14	60619882	60619882	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:60619882G>A	ENST00000216500.5	-	5	863	c.408C>T	c.(406-408)gtC>gtT	p.V136V	PCNXL4_ENST00000553898.1_Intron|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000557185.1_Silent_p.V136V|DHRS7_ENST00000536410.2_Silent_p.V86V			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	136							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CACCATTGTTGACCAGAATGT	0.423000													13	48					0	0	0.013537	0	0
FGFR2	2263	broad.mit.edu	37	10	123353267	123353267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:123353267C>T	ENST00000358487.5	-	2	337	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000351936.6_Missense_Mutation_p.R22Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.R22Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.R22Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.R22Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.R22Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.R22Q|FGFR2_ENST00000359354.2_Missense_Mutation_p.R22Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.R22Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.R22Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.R22Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.R22Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	22					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GAAGGAGGGCCGGGCCAGGGA	0.502000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				21	45					0	0	0.002780	0	0
GJA9	81025	broad.mit.edu	37	1	39340782	39340782	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:39340782G>C	ENST00000454994.2	-	2	1265	c.989C>G	c.(988-990)tCt>tGt	p.S330C	RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.S330C|GJA9_ENST00000357771.3_Missense_Mutation_p.S330C|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	330					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AATCTCATTAGAAAGTACAGT	0.313000													5	77					0	0	0.000602	0	0
SSH2	85464	broad.mit.edu	37	17	27963225	27963225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:27963225C>G	ENST00000269033.3	-	14	2093	c.1942G>C	c.(1942-1944)Gat>Cat	p.D648H	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.D675H	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	648					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAATGCGATCTGTACTGAAA	0.498000													3	124					0	0	0.004672	0	0
KITLG	4254	broad.mit.edu	37	12	88912549	88912549	+	Silent	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:88912549A>G	ENST00000347404.5	-	4	860	c.288T>C	c.(286-288)agT>agC	p.S96S	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Silent_p.S96S|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	96					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TGGAATAATTACTCAAGCCTT	0.378000									Testicular Cancer, Familial Clustering of				15	34					0	0	0.004990	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242228	18242228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:18242228C>T	ENST00000377369.2	+	2	296	c.23C>T	c.(22-24)tCa>tTa	p.S8L	SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	8					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACAAAGCTCTCAGTATCCTGG	0.502000													11	200					0	0	0.008291	0	0
LAMA2	3908	broad.mit.edu	37	6	129691064	129691064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:129691064G>A	ENST00000421865.2	+	34	4937	c.4888G>A	c.(4888-4890)Gag>Aag	p.E1630K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1630	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCGGGCCCCAGAGAGGCTTAT	0.458000													20	50					0	0	0.012319	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250655	140250655	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:140250655C>T	ENST00000398640.2	+	1	1967	c.1967C>T	c.(1966-1968)cCg>cTg	p.P656L	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGAGCCGGCGCTGACG	0.677000													12	68					0	0	0.010729	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410338	10410338	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:10410338C>T	ENST00000379613.3	-	2	538	c.282G>A	c.(280-282)caG>caA	p.Q94Q	TFAP2A_ENST00000482890.1_Silent_p.Q92Q|TFAP2A_ENST00000379604.2_Silent_p.Q92Q|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Silent_p.Q86Q|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000319516.4_Silent_p.Q88Q			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	92	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGCCTGGGTGCTGCGGCTGCG	0.692000													10	61					0	0	0.010729	0	0
NEK11	79858	broad.mit.edu	37	3	130828651	130828651	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:130828651G>T	ENST00000383366.4	+	5	634	c.341G>T	c.(340-342)cGa>cTa	p.R114L	NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.R114L|NEK11_ENST00000511262.1_Missense_Mutation_p.R114L|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.R114L|NEK11_ENST00000510769.1_Missense_Mutation_p.R114L|NEK11_ENST00000429253.2_Missense_Mutation_p.R114L|NEK11_ENST00000508196.1_Missense_Mutation_p.R114L|NEK11_ENST00000507910.1_Missense_Mutation_p.R114L	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	114	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TTTCAGGGCCGAGATCTGGAC	0.333000													12	96					7.03913e-09	8.02133e-09	0.013537	1	0
TRPV5	56302	broad.mit.edu	37	7	142605800	142605800	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:142605800C>T	ENST00000265310.1	-	15	2418	c.2070G>A	c.(2068-2070)cgG>cgA	p.R690R		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	690					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGGACGCGGTCCGGGACAGGG	0.582000													5	105					0	0	0.000602	0	0
CLPX	10845	broad.mit.edu	37	15	65447361	65447361	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:65447361G>A	ENST00000300107.3	-	11	1558	c.1370C>T	c.(1369-1371)gCa>gTa	p.A457V		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	457					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AGCAAGGTCTGCAGCAGCTGC	0.408000													14	58					0	0	0.001855	0	0
MOCOS	55034	broad.mit.edu	37	18	33795828	33795828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:33795828G>A	ENST00000261326.5	+	8	1706	c.1685G>A	c.(1684-1686)aGa>aAa	p.R562K		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	562					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GATGTCGCCAGAACCCAGCCG	0.552000													5	78					0	0	0.001168	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490167	141490167	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:141490167G>A	ENST00000247883.4	+	1	151	c.6G>A	c.(4-6)ctG>ctA	p.L2L		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	2					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CAGCCATGCTGAGCGCTGGCC	0.512000													4	112					0	0	0.000602	0	0
NRG1	3084	broad.mit.edu	37	8	32616847	32616847	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:32616847C>G	ENST00000338921.4	+	11	1495	c.978C>G	c.(976-978)atC>atG	p.I326M	NRG1_ENST00000287845.5_Missense_Mutation_p.I289M|NRG1_ENST00000523079.1_Missense_Mutation_p.I315M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.I268M|NRG1_ENST00000539990.1_Missense_Mutation_p.I161M|NRG1_ENST00000356819.4_Missense_Mutation_p.I323M|NRG1_ENST00000287842.3_Missense_Mutation_p.I315M|NRG1_ENST00000521670.1_Missense_Mutation_p.I318M|NRG1_ENST00000405005.3_Missense_Mutation_p.I318M			Q02297	NRG1_HUMAN	neuregulin 1	318					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAAACGTCATCTCCAGTGAGC	0.403000													17	63					0	0	0.004990	0	0
SMC4	10051	broad.mit.edu	37	3	160137215	160137215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:160137215C>T	ENST00000357388.3	+	12	2192	c.1741C>T	c.(1741-1743)Caa>Taa	p.Q581*	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Nonsense_Mutation_p.Q581*|SMC4_ENST00000462787.1_Nonsense_Mutation_p.Q581*|SMC4_ENST00000469762.1_Nonsense_Mutation_p.Q556*|SMC4_ENST00000344722.5_Nonsense_Mutation_p.Q581*	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	581					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATCTCTTTCAAAAAGTTGA	0.323000													5	70					0	0	0.001168	0	0
SPTA1	6708	broad.mit.edu	37	1	158646079	158646079	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:158646079C>T	ENST00000368147.4	-	8	1144	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCACATAACTCCTTCACCTTT	0.438000													19	122					0	0	0.010504	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513181	149513181	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:149513181T>C	ENST00000261799.4	-	6	1371	c.902A>G	c.(901-903)cAg>cGg	p.Q301R		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	301	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTTTCATCCTGATGGTCATT	0.557000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								5	319					0	0	0.001984	0	0
HERC1	8925	broad.mit.edu	37	15	63984690	63984690	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:63984690G>C	ENST00000443617.2	-	31	5837	c.5750C>G	c.(5749-5751)tCa>tGa	p.S1917*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1917					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AATTGCTTTTGAAGATACAAC	0.403000													5	75					0	0	0.000602	0	0
PSEN1	5663	broad.mit.edu	37	14	73664744	73664744	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:73664744G>A	ENST00000324501.5	+	8	1047	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	PSEN1_ENST00000394164.1_Missense_Mutation_p.V255M|PSEN1_ENST00000344094.3_Missense_Mutation_p.V259M|PSEN1_ENST00000406768.1_Missense_Mutation_p.V167M|PSEN1_ENST00000557511.1_Missense_Mutation_p.V259M|PSEN1_ENST00000357710.4_Missense_Mutation_p.V255M|PSEN1_ENST00000261970.3_Missense_Mutation_p.V259M	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	259					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCTAGATTTAGTGGCTGTTTT	0.368000													4	34					0	0	0.009096	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161457	25161457	+	RNA	SNP	G	G	A	rs1851732	by1000genomes	TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:25161457G>A	ENST00000453498.1	+	0	981				TPTE2P6_ENST00000440905.1_RNA																							TTATTTATTCGATTCGTGGTA	0.378000													5	37					0	0	0.001984	0	0
PLVAP	83483	broad.mit.edu	37	19	17476167	17476167	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:17476167C>G	ENST00000252590.4	-	3	1168	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	369						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCGCCTCCCTCTTCTTCTCTT	0.617000													3	101					0	0	0.004672	0	0
SH3D19	152503	broad.mit.edu	37	4	152065413	152065413	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:152065413C>T	ENST00000304527.4	-	12	2359	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	SH3D19_ENST00000409252.2_Missense_Mutation_p.E424K|SH3D19_ENST00000409598.4_Intron|SH3D19_ENST00000427414.2_Intron|SH3D19_ENST00000514152.1_Intron|SH3D19_ENST00000455740.1_Intron|SH3D19_ENST00000424281.1_Intron	NM_001009555.3	NP_001009555.3	Q5HYK7	SH319_HUMAN	SH3 domain containing 19	424	SH3 1.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ACAATATCTTCATTGGCAATT	0.363000													14	183					0	0	0.002450	0	0
ARSD	414	broad.mit.edu	37	X	2828744	2828744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:2828744C>G	ENST00000381154.1	-	7	1166	c.1091G>C	c.(1090-1092)aGa>aCa	p.R364T		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	364						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGTCCATCTCTTGCCTCTAA	0.443000													4	251					0	0	0.009096	0	0
TRIM25	7706	broad.mit.edu	37	17	54991298	54991298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:54991298C>T	ENST00000316881.4	-	1	101	c.52G>A	c.(52-54)Gag>Aag	p.E18K	TRIM25_ENST00000537230.1_Missense_Mutation_p.E18K	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	18					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TTGAAGGGCTCCAGGCAGATG	0.682000													4	13					0	0	0.009096	0	0
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711000													3	38					0	0	0.000602	0	0
RYR2	6262	broad.mit.edu	37	1	237765404	237765404	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:237765404G>C	ENST00000366574.2	+	35	4993	c.4676G>C	c.(4675-4677)aGa>aCa	p.R1559T	RYR2_ENST00000542537.1_Missense_Mutation_p.R1543T|RYR2_ENST00000360064.6_Missense_Mutation_p.R1557T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1559	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTTGGGAAGAATAAAGGTA	0.303000													5	35					0	0	0.000602	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450013	54450013	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:54450013G>T	ENST00000566473.2	+	6	617	c.617G>T	c.(616-618)aGc>aTc	p.S206I	ANKFN1_ENST00000318698.2_Missense_Mutation_p.S206I			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	206										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TTAGTTGTCAGCCTGGAAAGC	0.463000													27	103					1.77063e-15	2.07811e-15	0.005443	1	0
IL12B	3593	broad.mit.edu	37	5	158750185	158750185	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:158750185C>G	ENST00000231228.2	-	3	696	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	81	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCCAAACTCTTTGACTTGG	0.517000													3	61					0	0	0.004672	0	0
OTOP1	133060	broad.mit.edu	37	4	4190623	4190623	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:4190623G>A	ENST00000296358.4	-	6	1770	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	582					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAATTATCCAGGGTTCAAAGC	0.463000													16	121					0	0	0.008361	0	0
DGKK	139189	broad.mit.edu	37	X	50213512	50213512	+	RNA	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:50213512C>G	ENST00000376025.2	-	0	225							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGACAGGGCTCTGGTATGGGT	0.677000													18	101					0	0	0.004990	0	0
LMCD1	29995	broad.mit.edu	37	3	8590590	8590590	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:8590590G>A	ENST00000157600.3	+	4	955		c.e4+1		LMCD1_ENST00000454244.1_Splice_Site|LMCD1_ENST00000535732.1_Splice_Site|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Splice_Site	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1						positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGTGGAATACGTAAGTTTCTC	0.572000													6	10					0	0	0.001168	0	0
LAS1L	81887	broad.mit.edu	37	X	64749124	64749124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:64749124G>T	ENST00000374811.3	-	6	854	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	LAS1L_ENST00000312391.8_Missense_Mutation_p.L272M|LAS1L_ENST00000374807.5_Missense_Mutation_p.L272M|LAS1L_ENST00000374804.5_Missense_Mutation_p.L230M	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	272						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GATACCAGCAGTTCTCGGGCT	0.522000											OREG0019826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	33					4.35082e-09	4.9869e-09	0.010504	1	0
ZFPM2	23414	broad.mit.edu	37	8	106573710	106573710	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:106573710G>A	ENST00000407775.2	+	4	670		c.e4+1		ZFPM2_ENST00000520492.1_Splice_Site|ZFPM2_ENST00000517361.1_Splice_Site	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2						blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TAATTCTTTGGTATGTGGATA	0.408000													21	16					0	0	0.010504	0	0
GAPT	202309	broad.mit.edu	37	5	57790716	57790716	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:57790716C>G	ENST00000396776.2	+	3	815	c.353C>G	c.(352-354)tCt>tGt	p.S118C	GAPT_ENST00000318469.2_Missense_Mutation_p.S118C	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	118					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						ACAGGGCAGTCTAATTTCGAG	0.398000													15	99					0	0	0.003163	0	0
PELI3	246330	broad.mit.edu	37	11	66241241	66241241	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:66241241C>T	ENST00000349459.6	+	6	897	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Silent_p.L229L|PELI3_ENST00000320740.7_Silent_p.L229L	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	229						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CCCAGATGGCCTGATGGATGG	0.657000													3	69					0	0	0.004672	0	0
LOC644669	644669	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:15323336G>A	ENST00000455308.2	-	0	512					NR_027417.1																						TTTCCTTATGGCCAATAAAAG	0.289000													4	6					0	0	0.000602	0	0
TRIM11	81559	broad.mit.edu	37	1	228589812	228589812	+	Silent	SNP	C	C	T	rs148386528		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:228589812C>T	ENST00000493030.2	-	1	3793	c.84G>A	c.(82-84)gcG>gcA	p.A28A	TRIM11_ENST00000366699.3_Silent_p.A153A|TRIM11_ENST00000284551.6_Silent_p.A153A			Q96F44	TRI11_HUMAN	tripartite motif containing 11	153					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GGAACAGCAACGCATCCTGCA	0.627000													4	26					0	0	0.009096	0	0
ODF2	4957	broad.mit.edu	37	9	131243909	131243909	+	Silent	SNP	G	G	A	rs150687097		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:131243909G>A	ENST00000434106.3	+	9	1257	c.894G>A	c.(892-894)gcG>gcA	p.A298A	ODF2_ENST00000604420.1_Silent_p.A298A|ODF2_ENST00000393527.3_Silent_p.A274A|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000448249.3_Silent_p.A217A|ODF2_ENST00000372807.5_Silent_p.A293A|ODF2_ENST00000372791.3_Silent_p.A279A|ODF2_ENST00000351030.3_Silent_p.A293A|ODF2_ENST00000444119.2_Silent_p.A274A|ODF2_ENST00000372814.3_Silent_p.A342A|ODF2_ENST00000546203.1_Silent_p.A279A|ODF2_ENST00000393533.2_Silent_p.A298A	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AACGGCTGGCGGAGGCCGACT	0.483000													5	42					0	0	0.000602	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20246922	20246922	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:20246922G>A	ENST00000375116.3	-	4	364	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	103					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTCAGCCGCTGGCAGGTG	0.592000													11	57					0	0	0.013537	0	0
LOC644669	644669	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:15323340A>G	ENST00000455308.2	-	0	508					NR_027417.1																						CTTATGGCCAATAAAAGTGGT	0.299000													4	7					0	0	0.000602	0	0
USP17L2	377630	broad.mit.edu	37	8	11996072	11996072	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:11996072C>T	ENST00000333796.3	-	1	514	c.198G>A	c.(196-198)aaG>aaA	p.K66K	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	66				K -> E (in Ref. 1; AAR91701).	apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GAGGAAGCTTCTTCCTGGGAG	0.567000													8	94					0	0	0.003080	0	0
KITLG	4254	broad.mit.edu	37	12	88912550	88912550	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:88912550C>A	ENST00000347404.5	-	4	859	c.287G>T	c.(286-288)aGt>aTt	p.S96I	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.S96I|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	96					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GGAATAATTACTCAAGCCTTC	0.378000									Testicular Cancer, Familial Clustering of				15	35					0.000422831	0.00046822	0.004007	1	0
ATRAID	51374	broad.mit.edu	37	2	27439745	27439745	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:27439745C>T	ENST00000380171.3	+	7	961	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	ATRAID_ENST00000405489.3_Silent_p.L149L|ATRAID_ENST00000606999.1_Silent_p.L207L	NM_080592.3	NP_542159.3			all-trans retinoic acid-induced differentiation factor																		CTTCGGGATTCTGGGAGCCAC	0.502000													33	65					0	0	0.005524	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589991	64589991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:64589991G>T	ENST00000498707.1	-	24	3833	c.3491C>A	c.(3490-3492)tCa>tAa	p.S1164*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.S1136*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1164	TSP type-1 6.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGGATGACATGATGGTAATTC	0.458000													16	73					4.96729e-08	5.59534e-08	0.008871	1	0
AKAP11	11215	broad.mit.edu	37	13	42882729	42882729	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:42882729C>T	ENST00000025301.2	+	9	5432	c.5257C>T	c.(5257-5259)Cat>Tat	p.H1753Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1753	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CAGCAGTTTTCATCATCTAAG	0.353000													10	60					0	0	0.008291	0	0
TDRD6	221400	broad.mit.edu	37	6	46660917	46660917	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:46660917G>C	ENST00000544460.1	+	1	5306	c.5052G>C	c.(5050-5052)ttG>ttC	p.L1684F	TDRD6_ENST00000316081.6_Missense_Mutation_p.L1684F	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1684					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGTTGACTTGAAAAGCAAAG	0.303000													5	34					0	0	0.000602	0	0
CDK7	1022	broad.mit.edu	37	5	68548275	68548275	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:68548275G>C	ENST00000256443.3	+	3	260	c.157G>C	c.(157-159)Gat>Cat	p.D53H	CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_5'UTR|CDK7_ENST00000514676.1_Missense_Mutation_p.D53H	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	53	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AGAAGCTAAAGATGGTAAGTA	0.264000								Nucleotide excision repair (NER)					3	84					0	0	0.004672	0	0
NRG4	145957	broad.mit.edu	37	15	76254308	76254308	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:76254308C>T	ENST00000394907.3	-	4	293	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	NRG4_ENST00000535975.1_Missense_Mutation_p.E38K	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	38	EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						GTATAGTTTTCAACGCACCTA	0.388000													21	107					0	0	0.008871	0	0
CNTN4	152330	broad.mit.edu	37	3	3078912	3078912	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:3078912G>C	ENST00000397461.1	+	17	2376	c.1992G>C	c.(1990-1992)ttG>ttC	p.L664F	CNTN4_ENST00000418658.1_Missense_Mutation_p.L664F|CNTN4_ENST00000427331.1_Missense_Mutation_p.L664F|CNTN4_ENST00000397459.2_Missense_Mutation_p.L336F|CNTN4_ENST00000448906.2_Missense_Mutation_p.L336F|CNTN4_ENST00000358480.3_Missense_Mutation_p.L445F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	664	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGTGGGTTTGAACCCTTGGG	0.502000													12	293					0	0	0.010729	0	0
PTPRF	5792	broad.mit.edu	37	1	44071029	44071029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:44071029C>T	ENST00000359947.4	+	18	3644	c.3304C>T	c.(3304-3306)Cac>Tac	p.H1102Y	PTPRF_ENST00000372414.3_Missense_Mutation_p.H1102Y|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.H1093Y|PTPRF_ENST00000422171.2_Missense_Mutation_p.H450Y|PTPRF_ENST00000372413.3_Missense_Mutation_p.H1093Y	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1102					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTCCTGCCTCACAAGCCGCT	0.632000													10	43					0	0	0.008291	0	0
TMEM239	100288797	broad.mit.edu	37	20	2795885	2795885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr20:2795885C>T	ENST00000380593.4	+	2	138	c.55C>T	c.(55-57)Cct>Tct	p.P19S	TMEM239_ENST00000554164.1_Missense_Mutation_p.P19S|C20orf141_ENST00000603872.1_Missense_Mutation_p.P19S|C20orf141_ENST00000380589.4_Missense_Mutation_p.P19S			Q8WW34	Q8WW34_HUMAN	transmembrane protein 239	0																	GATCCCAGTTCCTCCAAGGGG	0.617000													9	156					0	0	0.004482	0	0
C1orf64	149563	broad.mit.edu	37	1	16332663	16332663	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:16332663C>T	ENST00000329454.2	+	2	400	c.332C>T	c.(331-333)cCg>cTg	p.P111L	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	111										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACCCTGCCGCTCTGCAGA	0.647000													8	67					0	0	0.004482	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307611	46307611	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:46307611C>T	ENST00000221538.3	-	3	1694	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	RSPH6A_ENST00000600188.1_Missense_Mutation_p.D254N|RSPH6A_ENST00000597055.1_Missense_Mutation_p.D518N	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	518	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCGTAGGAGTCGCGCCCAGCA	0.647000													12	88					0	0	0.013537	0	0
PI15	51050	broad.mit.edu	37	8	75757469	75757469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:75757469G>A	ENST00000260113.2	+	4	678	c.499G>A	c.(499-501)Ggt>Agt	p.G167S	RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.G167S	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	167						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GAGATGTTTTGGTCCCATGTG	0.368000													19	97					0	0	0.002780	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789394	117789394	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:117789394G>A	ENST00000528626.1	-	2	254	c.181C>T	c.(181-183)Cca>Tca	p.P61S	TMPRSS13_ENST00000430170.2_Missense_Mutation_p.P61S|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.P61S|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.P61S|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.P61S	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	61	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GTACCAGCTGGAGATGCCTGG	0.697000													7	86					0	0	0.003080	0	0
RRP12	23223	broad.mit.edu	37	10	99148350	99148350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:99148350G>A	ENST00000370992.4	-	7	896	c.785C>T	c.(784-786)tCa>tTa	p.S262L	RRP12_ENST00000536831.1_Intron|RRP12_ENST00000414986.1_Missense_Mutation_p.S201L|RRP12_ENST00000315563.6_Missense_Mutation_p.S162L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	262						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTGAGGACTGAGCATACTCC	0.552000													8	41					0	0	0.003080	0	0
CLVS2	134829	broad.mit.edu	37	6	123332247	123332247	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:123332247C>A	ENST00000275162.5	+	3	1842	c.507C>A	c.(505-507)ttC>ttA	p.F169L	CLVS2_ENST00000368438.1_Missense_Mutation_p.F23L	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2		CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTTCACTTTCAAGCAAGCCT	0.413000													9	58					0.000274275	0.000305443	0.004482	1	0
SMARCA4	6597	broad.mit.edu	37	19	11094864	11094864	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:11094864C>T	ENST00000358026.2	+	2	321	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	SMARCA4_ENST00000429416.3_Missense_Mutation_p.R13W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R13W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R13W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R13W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R13W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R13W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R13W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R13W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	13	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGAACTCCTCGGCCAGGTCC	0.687000			"""F, N, Mis"""		NSCLC								13	56					0	0	0.002450	0	0
COL6A1	1291	broad.mit.edu	37	21	47423837	47423837	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr21:47423837C>T	ENST00000361866.3	+	35	3111	c.2997C>T	c.(2995-2997)ggC>ggT	p.G999G	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	999	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGGCCTACGGCGAGAGCCACC	0.667000													11	102					0	0	0.010729	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													4	75					0	0	0.009096	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754425	31754425	+	RNA	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:31754425G>T	ENST00000405650.1	-	0	815				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TGAGAAAAATGCAAATGCAAG	0.458000													16	25					1.5739e-10	1.81461e-10	0.004007	1	0
CDH20	28316	broad.mit.edu	37	18	59166706	59166706	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:59166706C>T	ENST00000262717.4	+	3	932	c.534C>T	c.(532-534)tcC>tcT	p.S178S	CDH20_ENST00000536675.2_Silent_p.S178S|CDH20_ENST00000538374.1_Silent_p.S178S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	178	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAGAAATGTCCCCTGTGGGTA	0.458000													12	39					0	0	0.001855	0	0
BAI2	576	broad.mit.edu	37	1	32205620	32205620	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:32205620C>T	ENST00000373658.3	-	14	2415	c.2074G>A	c.(2074-2076)Gtg>Atg	p.V692M	BAI2_ENST00000398542.1_Missense_Mutation_p.V625M|BAI2_ENST00000527361.1_Missense_Mutation_p.V692M|BAI2_ENST00000398538.1_Missense_Mutation_p.V680M|BAI2_ENST00000440175.2_Missense_Mutation_p.V334M|BAI2_ENST00000398547.1_Missense_Mutation_p.V625M|BAI2_ENST00000398556.3_Missense_Mutation_p.V640M|BAI2_ENST00000373655.2_Missense_Mutation_p.V692M|BAI2_ENST00000257070.4_Missense_Mutation_p.V692M	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	692					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCAGGTGCACAGAGCCAGGG	0.587000													11	54					0	0	0.010729	0	0
CEP41	95681	broad.mit.edu	37	7	130039926	130039926	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:130039926C>G	ENST00000223208.5	-	10	1197	c.927G>C	c.(925-927)aaG>aaC	p.K309N	CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa						G2/M transition of mitotic cell cycle	centrosome|cytosol											AATATTCTATCTTTTTTAAGT	0.453000													76	107					0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158596663	158596663	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:158596663G>A	ENST00000368147.4	-	41	5979	c.5799C>T	c.(5797-5799)ttC>ttT	p.F1933F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTTCCAGTTGAATTCCTGAA	0.458000													27	136					0	0	0.010818	0	0
LRBA	987	broad.mit.edu	37	4	151729481	151729481	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:151729481G>C	ENST00000535741.1	-	32	5848	c.5375C>G	c.(5374-5376)tCa>tGa	p.S1792*	LRBA_ENST00000357115.3_Nonsense_Mutation_p.S1792*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.S1792*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.S1792*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1792						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCTCATATTTGAAACCGGATC	0.303000													18	50					0	0	0.007413	0	0
POGZ	23126	broad.mit.edu	37	1	151378506	151378506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:151378506C>T	ENST00000271715.2	-	19	3319	c.3005G>A	c.(3004-3006)cGt>cAt	p.R1002H	POGZ_ENST00000392723.1_Missense_Mutation_p.R949H|POGZ_ENST00000368863.2_Missense_Mutation_p.R907H|POGZ_ENST00000409503.1_Missense_Mutation_p.R993H|POGZ_ENST00000361398.3_Missense_Mutation_p.R949H|POGZ_ENST00000491586.1_Missense_Mutation_p.R958H|POGZ_ENST00000540984.1_Missense_Mutation_p.R364H|POGZ_ENST00000531094.1_Missense_Mutation_p.R940H	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1002					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGGCGAATACGTCGCTGGGG	0.512000													22	199					0	0	0.012319	0	0
TAAR1	134864	broad.mit.edu	37	6	132966336	132966336	+	Silent	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:132966336G>T	ENST00000275216.1	-	1	806	c.807C>A	c.(805-807)atC>atA	p.I269I		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	269						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TGACTGTACAGATAAAGAAAG	0.368000													24	33					1.64293e-13	1.91676e-13	0.003330	1	0
ADAR	103	broad.mit.edu	37	1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642000													12	135					0	0	0.010504	0	0
COG8	84342	broad.mit.edu	37	16	69373204	69373204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr16:69373204G>C	ENST00000306875.4	-	1	366	c.252C>G	c.(250-252)ttC>ttG	p.F84L	COG8_ENST00000562081.1_Missense_Mutation_p.F84L|RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	84					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TGTAGTTAGCGAAGGCCAAGT	0.716000													4	30					0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9090712	9090712	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:9090712T>C	ENST00000397910.4	-	1	1306	c.1103A>G	c.(1102-1104)cAt>cGt	p.H368R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	368	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCGAAGGCATGGAAGGTAAG	0.502000													11	34					0	0	0.010729	0	0
DMD	1756	broad.mit.edu	37	X	32235111	32235111	+	Silent	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:32235111T>C	ENST00000357033.4	-	44	6566	c.6360A>G	c.(6358-6360)ctA>ctG	p.L2120L	DMD_ENST00000378677.2_Silent_p.L2116L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2120					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGCTTCTGTTAGCCACTGAT	0.343000													13	19					0	0	0.013537	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085106	35085106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:35085106C>T	ENST00000601241.1	-	3	2320	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	SCGB2B2_ENST00000379204.2_Missense_Mutation_p.E74K|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	74						extracellular region	binding										GCAAATCTTTCTGTCACGGAG	0.542000													17	175					0	0	0.008871	0	0
NBN	4683	broad.mit.edu	37	8	90993117	90993117	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:90993117C>T	ENST00000265433.3	-	4	479	c.325G>A	c.(325-327)Gag>Aag	p.E109K	NBN_ENST00000409330.1_Missense_Mutation_p.E27K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	109	BRCT.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGCTCATACTCTATTCTGTAA	0.328000								Homologous recombination					5	20					0	0	0.000602	0	0
FREM1	158326	broad.mit.edu	37	9	14808019	14808019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:14808019G>A	ENST00000380881.4	-	18	3825	c.3010C>T	c.(3010-3012)Cca>Tca	p.P1004S	FREM1_ENST00000422223.2_Missense_Mutation_p.P1003S|FREM1_ENST00000380880.3_Missense_Mutation_p.P1003S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1003					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCATGAAGTGGAACAGATGGA	0.463000													20	149					0	0	0.008871	0	0
TCHH	7062	broad.mit.edu	37	1	152081768	152081768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:152081768delT	ENST00000368804.1	-	2	3924	c.3925delA	c.(3925-3927)aggfs	p.R1310fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1310	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCGCGCCTTTTGGCTTCC	0.547													7	544	---	---	---	---					
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-	rs143592003		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.640													7	254	---	---	---	---					
PHF7	51533	broad.mit.edu	37	3	52456270	52456291	+	Frame_Shift_Del	DEL	TCTCAGACTTATATCAGCGCTA	TCTCAGACTTATATCAGCGCTA	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:52456270_52456291delTCTCAGACTTATATCAGCGCTA	ENST00000327906.3	+	9	1373_1394	c.713_734delTCTCAGACTTATATCAGCGCTA	c.(712-735)ttctcagacttatatcagcgctatfs	p.FSDLYQRY238fs	PHF7_ENST00000347025.2_Intron	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	238						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCAGGGGCTTTCTCAGACTTATATCAGCGCTATCAGCACTGT	0.495													9	129	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651987	36651988	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:36651987_36651988insT	ENST00000405375.1	+	2	344_345	c.109_110insT	c.(109-111)ctafs	p.L37fs	CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.L71fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.L37fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.L37fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	37					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CTGTGATGCGCTAATGGCGGGC	0.663													12	46	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36652126	36652139	+	Frame_Shift_Del	DEL	GGCGAGGCCGGGAT	GGCGAGGCCGGGAT	-	rs34916193	byFrequency	TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:36652126_36652139delGGCGAGGCCGGGAT	ENST00000405375.1	+	2	483_496	c.248_261delGGCGAGGCCGGGAT	c.(247-261)cggcgaggccgggatfs	p.RRGRD83fs	CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.RRGRD117fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.RRGRD83fs|CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.RRGRD83fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	83					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.R86W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						ACGGGGCCCCGGCGAGGCCGGGATGAGTTGGGAG	0.645													8	23	---	---	---	---					
NUP43	348995	broad.mit.edu	37	6	150067783	150067786	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:150067783_150067786delCAGT	ENST00000367403.3	-	1	28_31	c.29_32delACTG	c.(28-33)gactgtfs	p.DC10fs	NUP43_ENST00000463048.3_Intron			Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	0					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		AGTGTGGGCACAGTCAGTACCTAG	0.564													3	3	---	---	---	---					
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1																						cttagtttacagtgaaaacaa	0.522													3	6	---	---	---	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													8	415	---	---	---	---					
DGCR5	26220	broad.mit.edu	37	22	18976301	18976324	+	RNA	DEL	TATTTATTTATTTATTTATTTATT	TATTTATTTATTTATTTATTTATT	-	rs139950802		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	ENST00000438934.1	+	0	394				DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA																							TGGCTGGACAtatttatttatttatttatttatttatttattta	0.411													4	2	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													2	4	---	---	---	---					
