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
KIAA1211	57482	broad.mit.edu	37	4	57182643	57182643	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:57182643G>A	ENST00000504228.1	+	6	3080	c.2975G>A	c.(2974-2976)cGa>cAa	p.R992Q	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R985Q|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R992Q			Q6ZU35	K1211_HUMAN	KIAA1211	992	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGTCTCGCCGAGCGGGGAGG	0.657000													7	45					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923162	24923162	+	Silent	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:24923162C>A	ENST00000329468.2	+	1	2622	c.2148C>A	c.(2146-2148)gtC>gtA	p.V716V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTGCCTCTGTCTCCAAGAAGT	0.527000													33	185					1.61788e-16	1.88949e-16	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													4	67					0.00024832	0.000257995	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43748066	43748066	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:43748066G>A	ENST00000389420.3	-	39	5678	c.5679C>T	c.(5677-5679)taC>taT	p.Y1893Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1893	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTTTCCACAGTACCCTCCAC	0.413000													4	8					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16455357	16455357	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:16455357C>G	ENST00000395824.1	-	6	2716	c.2099G>C	c.(2098-2100)gGa>gCa	p.G700A	ZNF287_ENST00000395825.3_Missense_Mutation_p.G700A			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	693					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GGGTCTCTCTCCAGTATGAGT	0.368000													12	80					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61760936	61760936	+	Nonstop_Mutation	SNP	T	T	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:61760936T>A	ENST00000584337.1	-	9	2119	c.1598A>T	c.(1597-1599)tAa>tTa	p.*533L	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577390.1_Intron|CDH8_ENST00000577730.1_Intron			P55286	CADH8_HUMAN	cadherin 8, type 2	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAATGCAGGTTAGTCAAATAT	0.353000													21	53					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7687231	7687231	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:7687231C>T	ENST00000358368.4	-	12	1640	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	XAB2_ENST00000534844.1_Missense_Mutation_p.E532K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	535					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AAGCTCTCCTCGAAGTACTTG	0.597000								Direct reversal of damage;Nucleotide excision repair (NER)					37	195					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14075943	14075943	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:14075943A>G	ENST00000235372.7	+	6	1328	c.472A>G	c.(472-474)Agc>Ggc	p.S158G	PRDM2_ENST00000376048.5_Missense_Mutation_p.S158G|PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Missense_Mutation_p.S158G	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	158						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGAGCGAGCCAGCGCCCGGAG	0.716000													4	24					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131476897	131476897	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:131476897G>A	ENST00000261654.5	+	8	1485	c.926G>A	c.(925-927)aGt>aAt	p.S309N	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.S341N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	309					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCTTACCCAGTAAGTCCCTC	0.502000													56	96					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74404394	74404394	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:74404394G>A	ENST00000286544.3	-	7	1963	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000534936.1_Missense_Mutation_p.R526C	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCTCTTTTACGGTCATTGTTC	0.368000													4	146					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546491	11546491	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:11546491C>T	ENST00000389362.4	-	3	556	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.R153L(1)|p.R174L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATCGAGAACTTCG	0.607000													7	714					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27505647	27505647	+	Missense_Mutation	SNP	C	C	A	rs112902769		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:27505647C>A	ENST00000296098.4	+	1	318	c.48C>A	c.(46-48)agC>agA	p.S16R	TRIM54_ENST00000380075.2_Missense_Mutation_p.S16R	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	16					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCACACAGCATGGACAACC	0.592000													5	400					8.12818e-05	8.55598e-05	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													4	66					0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150464598	150464598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:150464598G>A	ENST00000361131.4	+	1	387	c.270G>A	c.(268-270)tgG>tgA	p.W90*		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	90					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TGGAGGAATGGATCGTGGAGC	0.622000													5	34					0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64854194	64854194	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:64854194C>T	ENST00000294258.3	+	5	563	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	137					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TCCTCCAGATCGATGAGGTGG	0.567000													21	159					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664511	169664511	+	RNA	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:169664511T>C	ENST00000483289.2	-	0	2783				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						GTCCCTGCAGTAGAGACAGTC	0.512000													40	65					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													5	129					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580850	37580850	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:37580850C>G	ENST00000217429.4	+	4	1576	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	482					cell division|mitosis	cytoplasm|spindle pole		p.S512C(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TCCTCTGTGTCTTCCCAAGGC	0.507000													12	124					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149433887	149433887	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:149433887G>A	ENST00000286301.3	-	21	3052	c.2761C>T	c.(2761-2763)Cgg>Tgg	p.R921W		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	921			R -> Q (in dbSNP:rs56059682).		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)	CCACTCACCCGCTCTCTCCTG	0.632000													10	69					0	0	1	0	0
SRSF8	10929	broad.mit.edu	37	11	94801081	94801081	+	RNA	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:94801081G>T	ENST00000529911.1	+	0	721					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding										TCTGCGCGACGATCCAAGTCC	0.577000													20	76					2.94398e-08	3.27109e-08	1	1	0
VANGL1	81839	broad.mit.edu	37	1	116206355	116206355	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:116206355C>T	ENST00000355485.2	+	4	549	c.278C>T	c.(277-279)gCc>gTc	p.A93V	VANGL1_ENST00000310260.3_Missense_Mutation_p.A93V|VANGL1_ENST00000369510.3_Missense_Mutation_p.A91V|VANGL1_ENST00000369509.1_Missense_Mutation_p.A93V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	93					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAGGACATTGCCAGGATCAGC	0.567000													4	112					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547535	125547535	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:125547535A>T	ENST00000431078.1	+	18	3170	c.2806A>T	c.(2806-2808)Aat>Tat	p.N936Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	936	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTACACTTGAATGGACAGAA	0.502000													5	89					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134880877	134880877	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:134880877C>T	ENST00000398015.3	+	7	1810	c.1440C>T	c.(1438-1440)aaC>aaT	p.N480N	EPHB1_ENST00000493838.1_Silent_p.N41N	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	480	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATGAGTTCAACTCCTCCATGG	0.552000													24	78					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24546877	24546877	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:24546877G>A	ENST00000397016.2	+	17	1923	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S	CPNE6_ENST00000216775.2_Missense_Mutation_p.G538S|CPNE6_ENST00000537691.1_Missense_Mutation_p.G593S			O95741	CPNE6_HUMAN	copine VI (neuronal)	538					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CGCCAGCCAGGGCATCAGCCC	0.667000													50	217					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434597	118434597	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:118434597C>G	ENST00000369209.3	-	12	1827	c.1723G>C	c.(1723-1725)Gac>Cac	p.D575H		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	575							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACAGACTGGTCGGCAGAGATG	0.592000													26	64					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413211	124413211	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:124413211G>A	ENST00000306842.2	-	1	364	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		ATCGCTGACAGGATGAAGGAC	0.488000													19	49					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947717	95947717	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:95947717G>A	ENST00000317620.9	+	13	1729	c.1596G>A	c.(1594-1596)tcG>tcA	p.S532S	PROM2_ENST00000403131.2_Silent_p.S532S|PROM2_ENST00000542147.1_Silent_p.S532S|PROM2_ENST00000317668.4_Silent_p.S532S	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	532						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGAACCTGTCGCAACTTCTTG	0.627000													4	138					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399758	46399758	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:46399758C>T	ENST00000292301.4	+	2	1225	c.740C>T	c.(739-741)aCc>aTc	p.T247I	CCR2_ENST00000445132.2_Missense_Mutation_p.T247I|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.T247I	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	247					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTCATCTTCACCATCATGATT	0.473000													64	143					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170099557	170099557	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:170099557G>C	ENST00000263816.3	-	24	3861	c.3576C>G	c.(3574-3576)ttC>ttG	p.F1192L	LRP2_ENST00000443831.1_Missense_Mutation_p.F1055L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1192	LDL-receptor class A 12.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGCACACTTGAATTGAGAAG	0.378000													10	109					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6710853	6710853	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:6710853C>T	ENST00000309577.6	-	5	681	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	CHD4_ENST00000544040.1_Missense_Mutation_p.R166Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R170Q|CHD4_ENST00000357008.2_Missense_Mutation_p.R173Q			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	173					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTGAGGGTTCGATAATCCTC	0.488000													5	488					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136268926	136268926	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:136268926G>C	ENST00000371957.3	+	15	1684	c.1577G>C	c.(1576-1578)gGa>gCa	p.G526A	C9orf96_ENST00000371955.1_Missense_Mutation_p.G59A	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	526							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCAGCTGCGGAGTCTTCTGG	0.657000													19	51					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107141334	107141334	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:107141334G>A	ENST00000392842.1	+	16	2167	c.1753G>A	c.(1753-1755)Gtc>Atc	p.V585I	RFX4_ENST00000229387.5_Missense_Mutation_p.V491I|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.V594I	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	585					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TTCTTCCTCCGTCACACACAG	0.507000													30	73					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135306526	135306526	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:135306526C>T	ENST00000367837.5	-	12	1651	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q	HBS1L_ENST00000415177.2_Missense_Mutation_p.R417Q|HBS1L_ENST00000367826.2_Missense_Mutation_p.R440Q|HBS1L_ENST00000367824.4_Missense_Mutation_p.R318Q|HBS1L_ENST00000527578.1_Missense_Mutation_p.R318Q|HBS1L_ENST00000445176.2_Missense_Mutation_p.R206Q	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	482					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GTCAATAGATCGCTGGGGAGG	0.353000													4	185					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Missense_Mutation	SNP	C	C	A	rs28934572		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:7577550C>A	ENST00000420246.2	-	7	863	c.731G>T	c.(730-732)gGc>gTc	p.G244V	TP53_ENST00000455263.2_Missense_Mutation_p.G244V|TP53_ENST00000269305.4_Missense_Mutation_p.G244V|TP53_ENST00000445888.2_Missense_Mutation_p.G244V|TP53_ENST00000413465.2_Missense_Mutation_p.G244V|TP53_ENST00000359597.4_Missense_Mutation_p.G244V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTCATGCCGCCCATGCAGGA	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	85					0.000442599	0.000456877	1	1	0
IQCF1	132141	broad.mit.edu	37	3	51929136	51929136	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:51929136T>C	ENST00000310914.5	-	4	450	c.388A>G	c.(388-390)Aca>Gca	p.T130A		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	130	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACTGCAGTGTGACTGCTGCC	0.602000													46	67					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123632816	123632816	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:123632816G>T	ENST00000373896.3	-	4	521	c.268_splice	c.e4-1	p.A90_splice	PHF19_ENST00000312189.6_Splice_Site_p.A90_splice	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAACACCGGCTGAAAGAGA	0.567000													20	109					0.000958276	0.000982847	1	1	0
GLI3	2737	broad.mit.edu	37	7	42005626	42005626	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:42005626G>A	ENST00000395925.3	-	15	3129	c.3045C>T	c.(3043-3045)ggC>ggT	p.G1015G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1015					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCAGGGCCAGGCCCTCGGAGC	0.731000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	32					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638614	176638614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:176638614C>T	ENST00000439151.2	+	5	3259	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.R803*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R969*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R803*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1072					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGGGAGACCGAGAACGTGG	0.468000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			28	141					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5744474	5744474	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:5744474T>C	ENST00000381624.3	+	8	671	c.610T>C	c.(610-612)Ttt>Ctt	p.F204L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	204						integral to membrane											AATCTTCCACTTTTTTTCTTT	0.413000													18	95					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764237	92764237	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:92764237T>A	ENST00000318238.4	-	5	2264	c.1048A>T	c.(1048-1050)Agg>Tgg	p.R350W	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R350W|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R350W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	350										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGATATCCCTAGAGCTAGCC	0.348000													55	101					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96688757	96688757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:96688757C>A	ENST00000434632.1	-	21	2623	c.2164G>T	c.(2164-2166)Gag>Tag	p.E722*	GPAT2_ENST00000359548.4_Nonsense_Mutation_p.E722*|GPAT2_ENST00000377137.3_Missense_Mutation_p.Q637H|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.E651*			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	722					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AACAGCTGCTCTGTGTAGCCC	0.597000													17	88					5.3912e-06	5.82833e-06	1	1	0
PLCG2	5336	broad.mit.edu	37	16	81973600	81973600	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:81973600A>T	ENST00000359376.3	+	30	3631	c.3417A>T	c.(3415-3417)gaA>gaT	p.E1139D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1139	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTTATGAAGAAGATATGTTCA	0.428000													31	106					0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61605285	61605285	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:61605285C>T	ENST00000278840.4	+	2	873	c.243C>T	c.(241-243)ttC>ttT	p.F81F	FADS2_ENST00000521849.1_Silent_p.F81F|FADS2_ENST00000257261.6_Silent_p.F59F|FADS2_ENST00000522056.1_Silent_p.F50F	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	81	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACCTGGAATTCGTGGGCAAGT	0.597000													9	29					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395525	160395525	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:160395525C>G	ENST00000320767.2	+	1	578	c.391C>G	c.(391-393)Ctg>Gtg	p.L131V		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	131					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GCCTGGAGCTCTGACTGCTGA	0.473000													20	86					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542374	32542374	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:32542374C>T	ENST00000360538.2	-	3	2265	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	TOPORS_ENST00000379858.1_Missense_Mutation_p.E652K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	717	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAGATGATTCGTACCCATCC	0.373000													31	436					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136294	92136294	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:92136294G>T	ENST00000256343.3	-	14	1307	c.1151C>A	c.(1150-1152)tCt>tAt	p.S384Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	384					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGTGCTCACAGAGGCAATGGC	0.363000													18	108					4.96729e-08	5.48115e-08	1	1	0
EHD2	30846	broad.mit.edu	37	19	48244517	48244517	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:48244517G>T	ENST00000263277.3	+	6	1711	c.1460G>T	c.(1459-1461)gGg>gTg	p.G487V	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.G351V	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	487	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCAGTGCTGGGGCGCATCTGG	0.637000													38	53					8.69298e-16	1.00788e-15	1	1	0
FAM179A	165186	broad.mit.edu	37	2	29245049	29245049	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:29245049G>A	ENST00000379558.4	+	11	1737	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	FAM179A_ENST00000403861.2_Silent_p.T407T|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	462							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGGTGCTCACGTTGGGGTCTC	0.572000													70	119					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20079045	20079045	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:20079045G>A	ENST00000351989.3	+	6	1823	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	DGCR8_ENST00000383024.2_Missense_Mutation_p.R465Q|DGCR8_ENST00000407755.1_Missense_Mutation_p.R465Q	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	465	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCTGAGCGGCGGCAATTCAAT	0.493000													6	491					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762378	130762378	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:130762378G>C	ENST00000392429.1	+	2	3189	c.811G>C	c.(811-813)Ggc>Cgc	p.G271R	TMEM200A_ENST00000296978.3_Missense_Mutation_p.G271R|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G271R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	271						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TAAGACCAGCGGCTCTAAGAA	0.453000													24	85					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													7	168					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38329111	38329111	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:38329111A>G	ENST00000215957.6	+	13	2426	c.2300A>G	c.(2299-2301)aAt>aGt	p.N767S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	767						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGCCTCCTCAATAAGCCAGGT	0.597000													34	75					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123725172	123725172	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:123725172G>A	ENST00000223642.1	-	35	4426	c.4398_splice	c.e35+1	p.S1466_splice		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1466					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GGAGCTTACCGAATTCAGTTG	0.358000													4	190					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429103	57429103	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:57429103G>T	ENST00000306120.3	+	1	593	c.593G>T	c.(592-594)cGa>cTa	p.R198L	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371099.2_Silent_p.S261S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371100.4_Silent_p.S261S|GNAS_ENST00000371102.4_Silent_p.S261S|GNAS_ENST00000464624.2_3'UTR			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCGCGGCCTCGAGTGCGGTCC	0.662000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	52					5.9392e-07	6.50871e-07	1	1	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:100350361T>C	ENST00000542585.1	+	0	2781				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													4	214					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102261498	102261498	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:102261498C>T	ENST00000335968.3	-	3	613	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	133					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCAATCTTTCTTTTATGAAA	0.353000													15	33					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041666	47041666	+	Translation_Start_Site	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:47041666C>A	ENST00000383740.2	+	0	4256				NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000450053.3_Silent_p.G1359G			Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2								binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTGACCTGGGCCTGGAACGGT	0.617000													55	111					1.74971e-23	2.07373e-23	1	1	0
AVPR1A	552	broad.mit.edu	37	12	63541224	63541224	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:63541224T>A	ENST00000299178.2	-	2	1277	c.1172A>T	c.(1171-1173)aAt>aTt	p.N391I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	391					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGGCTTCGATTGTTAGAATA	0.408000													61	100					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38838177	38838177	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:38838177G>T	ENST00000359357.3	+	47	6432	c.6177_splice	c.e47-1	p.V2060_splice	DNAH8_ENST00000441566.1_Splice_Site_p.V2024_splice|DNAH8_ENST00000449981.2_Splice_Site_p.V2277_splice					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCCACCTTAGGTTGATGAAGA	0.403000													7	94					1.12685e-05	1.21004e-05	1	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58549368	58549368	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:58549368C>T	ENST00000282326.1	+	3	411	c.164C>T	c.(163-165)gCg>gTg	p.A55V	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A55V|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A55V	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	55	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGCACCTCGCGCTGGGCCAG	0.706000													5	58					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8737794	8737794	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:8737794C>T	ENST00000378641.3	+	24	3100	c.2625C>T	c.(2623-2625)ccC>ccT	p.P875P	PLCB1_ENST00000378637.2_Silent_p.P875P|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Silent_p.P875P	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	875					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCAAGCCACCCTCCCAGGCTC	0.547000													24	56					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100057104	100057104	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:100057104G>A	ENST00000369214.1	+	3	609	c.348G>A	c.(346-348)gaG>gaA	p.E116E	PRDM13_ENST00000369215.4_Silent_p.E106E	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	106	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CAGGGGAGGAGCTGACAGTGT	0.522000													15	39					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53776193	53776193	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:53776193C>T	ENST00000426431.2	+	3	501	c.441C>T	c.(439-441)aaC>aaT	p.N147N	SP1_ENST00000327443.4_Silent_p.N154N	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	154	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CCGCTCCCAACTTACAGAACC	0.512000													45	82					0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77131009	77131009	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chrX:77131009C>T	ENST00000358075.6	-	2	370	c.284G>A	c.(283-285)cGc>cAc	p.R95H	MAGT1_ENST00000373336.3_Missense_Mutation_p.R63H	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	63					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTCACAAGGCGACGGAACTT	0.418000													27	61					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79465540	79465540	+	Translation_Start_Site	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:79465540T>C	ENST00000428286.1	-	0	306				PRUNE2_ENST00000376718.3_Missense_Mutation_p.I61M|PRUNE2_ENST00000376713.3_Missense_Mutation_p.I61M			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGTTCTTGGTATGTTCAGCA	0.388000													24	149					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213813	3213813	+	RNA	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:3213813C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							GGGAACTTGTCCCTGCCAGAT	0.547000													28	68					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84370111	84370111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:84370111C>T	ENST00000295488.3	-	3	1178	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.W339*	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	339							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTATGTTGCCATTCTGTGGA	0.328000								Other identified genes with known or suspected DNA repair function					7	17					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184079216	184079216	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:184079216C>T	ENST00000265593.4	-	1	223	c.52G>A	c.(52-54)Gag>Aag	p.E18K	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.E18K|CLCN2_ENST00000434054.2_Missense_Mutation_p.E18K|CLCN2_ENST00000344937.7_Missense_Mutation_p.E18K	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	18						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGGTCTGCTCGTACTGCAGC	0.706000													17	145					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													4	63					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17206461	17206461	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:17206461C>T	ENST00000180173.5	-	5	632		c.e5+1		MTMR7_ENST00000521857.1_Splice_Site|MTMR7_ENST00000523571.1_Splice_Site	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7								protein tyrosine phosphatase activity	p.?(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCGAGACTTACGTGGTTATCT	0.443000													23	87					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8675467	8675467	+	Missense_Mutation	SNP	G	G	A	rs150785183	byFrequency	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:8675467G>A	ENST00000317371.4	-	11	1383	c.158C>T	c.(157-159)aCg>aTg	p.T53M	SSUH2_ENST00000415132.1_Missense_Mutation_p.T53M|SSUH2_ENST00000341795.3_Missense_Mutation_p.T53M|SSUH2_ENST00000544814.1_Missense_Mutation_p.T75M					ssu-2 homolog (C. elegans)																		CACCTCCTCCGTCATCGCAGG	0.657000													3	52					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43011260	43011260	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:43011260C>T	ENST00000535468.1	-	17	3619	c.3533G>A	c.(3532-3534)cGc>cAc	p.R1178H	CUL7_ENST00000265348.3_Missense_Mutation_p.R1094H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1094					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.R1094L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTGAGACGGCGCACCCGCGA	0.642000													4	49					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38787103	38787103	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:38787103C>T	ENST00000348513.6	-	10	1670	c.890G>A	c.(889-891)cGc>cAc	p.R297H	SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H|KRT222_ENST00000476049.1_3'UTR	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	297					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	p.R297H(1)		large_intestine(1)	1		Breast(137;0.000812)				CTGCCTTTTGCGGGCCTGTTC	0.507000													4	181					0	0	1	0	0
PMM2	5373	broad.mit.edu	37	16	8941585	8941585	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:8941585G>A	ENST00000268261.4	+	8	710	c.644G>A	c.(643-645)gGc>gAc	p.G215D	PMM2_ENST00000566983.1_Missense_Mutation_p.G188D|PMM2_ENST00000539622.1_Missense_Mutation_p.G132D|PMM2_ENST00000537352.1_Missense_Mutation_p.G90D|PMM2_ENST00000569958.1_Missense_Mutation_p.G124D|RP11-152P23.2_ENST00000567942.1_RNA	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	215					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						TTCCAGGGTGGCAATGACCAT	0.542000													4	145					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50434167	50434167	+	Silent	SNP	G	G	A	rs150212158	byFrequency	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:50434167G>A	ENST00000423777.2	+	2	437	c.60G>A	c.(58-60)ggG>ggA	p.G20G	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000600336.1_Silent_p.G20G|ATF5_ENST00000595125.1_Silent_p.G20G	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	20					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CAGCTAGTGGGCTGGGATGGC	0.672000													16	18					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77873857	77873857	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:77873857C>T	ENST00000380835.2	-	3	647	c.481G>A	c.(481-483)Gag>Aag	p.E161K	NOXRED1_ENST00000298358.3_Missense_Mutation_p.E161K	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	161					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGGCCTTCTCAAGGCTGGTG	0.488000													23	117					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200943897	200943897	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:200943897C>T	ENST00000332129.2	-	33	5036	c.4720G>A	c.(4720-4722)Gac>Aac	p.D1574N	KIF21B_ENST00000422435.2_Missense_Mutation_p.D1587N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1587N|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1574N	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1587					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATGGGACTGTCGTGGCCCTTG	0.597000													40	107					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005627	42005627	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:42005627C>A	ENST00000395925.3	-	15	3128	c.3044G>T	c.(3043-3045)gGc>gTc	p.G1015V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1015					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGGGCCAGGCCCTCGGAGCC	0.736000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	33					9.70103e-10	1.09307e-09	1	1	0
TET2	54790	broad.mit.edu	37	4	106157821	106157821	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:106157821G>T	ENST00000513237.1	+	3	3582	c.2785G>T	c.(2785-2787)Ggt>Tgt	p.G929C	TET2_ENST00000413648.2_Missense_Mutation_p.G908C|TET2_ENST00000545826.1_Missense_Mutation_p.G908C|TET2_ENST00000394764.1_Missense_Mutation_p.G908C|TET2_ENST00000380013.4_Missense_Mutation_p.G908C|TET2_ENST00000540549.1_Missense_Mutation_p.G908C|TET2_ENST00000305737.2_Missense_Mutation_p.G908C			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	908	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G908fs*14(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGATATGTCTGGTCAACAAGC	0.438000			"""Mis N, F"""		MDS								20	26					4.35082e-09	4.86805e-09	1	1	0
LRRC4	64101	broad.mit.edu	37	7	127670544	127670544	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:127670544G>C	ENST00000249363.3	-	2	407	c.150C>G	c.(148-150)tgC>tgG	p.C50W	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	50	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TACTGCACGAGCAGACGGAGG	0.647000													24	163					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	79					0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492565	198492565	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:198492565C>T	ENST00000367381.1	-	5	436	c.331G>A	c.(331-333)Gac>Aac	p.D111N	ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.D105N|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.D111N|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.D105N			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	105					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						GGTTTCATGTCACAGACCATG	0.388000													5	25					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497631	1497631	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:1497631C>G	ENST00000421627.2	+	2	906	c.772C>G	c.(772-774)Ctg>Gtg	p.L258V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	337					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTTCGGGGACCTGTCCCTCAA	0.672000													57	166					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96798665	96798665	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:96798665G>T	ENST00000371270.3	-	8	1374	c.1280C>A	c.(1279-1281)cCt>cAt	p.P427H	CYP2C8_ENST00000535898.1_Missense_Mutation_p.P325H	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	427					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCTGAGAAAGGCATGAAGTA	0.378000													10	61					0.000978159	0.00099685	1	1	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31844168	31844168	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:31844168G>A	ENST00000397525.1	-	13	2042	c.1819C>T	c.(1819-1821)Cgc>Tgc	p.R607C	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262C|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432C|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	607						nucleus	protein binding|protein transporter activity	p.R607C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGGGTTTGCGCATGCCTTGG	0.532000													4	193					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582787	228582787	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:228582787G>A	ENST00000493030.2	-	5	4360	c.651C>T	c.(649-651)caC>caT	p.H217H	TRIM11_ENST00000284551.6_Silent_p.H342H|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	342					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)				CCTCCCAGTAGTGGCGGCCTG	0.706000													29	47					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46250521	46250521	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:46250521G>A	ENST00000336378.4	+	15	1496	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	FAM21C_ENST00000374362.2_Missense_Mutation_p.D460N|FAM21C_ENST00000537517.1_Missense_Mutation_p.D436N|FAM21C_ENST00000540872.1_Missense_Mutation_p.D460N|FAM21C_ENST00000359860.4_Missense_Mutation_p.D404N	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	460										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						tgatgatgatgacgaCTTTTT	0.498000													9	32					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56281612	56281612	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:56281612C>A	ENST00000225371.5	+	12	2086	c.1976C>A	c.(1975-1977)aCc>aAc	p.T659N		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	659				RDGDRFWWQKRGVFTK -> ETETGSGGRTRCFHQ (in Ref. 3; AA sequence).	hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GGTGTTTTCACCAAAAGACAG	0.493000													30	103					4.74835e-14	5.46573e-14	1	1	0
SLC30A9	10463	broad.mit.edu	37	4	42025371	42025371	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:42025371C>T	ENST00000264451.6	+	6	760	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	194					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAAAAATTGCGTAAGGAAGC	0.338000													3	46					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26388443	26388443	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:26388443G>T	ENST00000335473.7	+	40	6521	c.6271G>T	c.(6271-6273)Gac>Tac	p.D2091Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2091Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.D2092Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2091						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCATCCAGTGACAGTGATAC	0.622000													20	63					1.50039e-11	1.70257e-11	1	1	0
ASGR2	433	broad.mit.edu	37	17	7005470	7005470	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:7005470G>C	ENST00000380952.2	-	8	973	c.709C>G	c.(709-711)Ctc>Gtc	p.L237V	ASGR2_ENST00000254850.7_Missense_Mutation_p.L213V|ASGR2_ENST00000355035.5_Missense_Mutation_p.L237V|ASGR2_ENST00000446679.2_Missense_Mutation_p.L218V	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	237	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CTGTCCGTGAGACCTATCCAG	0.463000													62	326					0	0	1	0	0
C12orf49	79794	broad.mit.edu	37	12	117175616	117175616	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:117175616G>A	ENST00000536380.1	-	1	258	c.157C>T	c.(157-159)Cct>Tct	p.P53S	C12orf49_ENST00000261318.3_Silent_p.F30F			Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	0						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		TGCTGCTGAGGAAGTAGACGA	0.627000													20	25					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606484	13606484	+	Silent	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:13606484T>C	ENST00000040738.5	-	10	2175	c.2040A>G	c.(2038-2040)gtA>gtG	p.V680V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	680	Lys-rich.						DNA binding										CTGAGCGTTCTACTTGCCTTT	0.398000													69	189					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520343	110520343	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:110520343A>G	ENST00000378402.5	+	70	11349	c.11245A>G	c.(11245-11247)Acc>Gcc	p.T3749A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3749					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGAGATTCAACCTGTAAGTA	0.338000										HNSCC(38;0.096)			34	75					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93756262	93756262	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:93756262T>C	ENST00000265990.6	+	24	3754	c.3446T>C	c.(3445-3447)gTt>gCt	p.V1149A	BTAF1_ENST00000544642.1_5'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1149					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGGAGAAGGTTCTTCCGTGG	0.433000													3	63					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74327691	74327691	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:74327691A>T	ENST00000268059.6	+	8	1985	c.1889A>T	c.(1888-1890)cAg>cTg	p.Q630L	PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Missense_Mutation_p.Q582L|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	31					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCGCTGAGCAGGCTGCCACC	0.662000			T	"""RARA, PAX5"""	"""APL, ALL"""								56	115					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579373	7579373	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:7579373C>A	ENST00000420246.2	-	4	446	c.314G>T	c.(313-315)gGc>gTc	p.G105V	TP53_ENST00000455263.2_Missense_Mutation_p.G105V|TP53_ENST00000269305.4_Missense_Mutation_p.G105V|TP53_ENST00000445888.2_Missense_Mutation_p.G105V|TP53_ENST00000413465.2_Missense_Mutation_p.G105V|TP53_ENST00000359597.4_Missense_Mutation_p.G105V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCGTAGCTGCCCTGGTAGGT	0.622000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			41	109					6.2361e-21	7.33659e-21	1	1	0
GPR50	9248	broad.mit.edu	37	X	150348704	150348704	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chrX:150348704G>A	ENST00000218316.3	+	2	718	c.649G>A	c.(649-651)Gcg>Acg	p.A217T		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	217					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGTGCTGGCGGCCCGTGA	0.527000													56	90					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923368	158923368	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:158923368C>T	ENST00000367097.3	+	13	4030	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	891					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCACCACCTTCGACAGCAGTG	0.642000													19	119					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177084311	177084311	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:177084311A>G	ENST00000393643.2	+	22	3109	c.2857A>G	c.(2857-2859)Atg>Gtg	p.M953V	WDR17_ENST00000280190.4_Missense_Mutation_p.M977V|WDR17_ENST00000507824.2_Missense_Mutation_p.M960V|WDR17_ENST00000508596.1_Missense_Mutation_p.M953V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	977										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAAGCTTGCTATGGCATACCT	0.443000													39	57					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204086308	204086308	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:204086308A>T	ENST00000367204.1	+	6	759	c.650A>T	c.(649-651)cAg>cTg	p.Q217L	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	217	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCCTTCAGCAGCAGATCCAG	0.592000													18	39					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2180755	2180755	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:2180755G>A	ENST00000398665.3	+	2	161	c.125_splice	c.e2+1	p.R42_splice		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	42						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGACCATCCGGTGAGTGCAC	0.567000													8	35					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986849	42986849	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:42986849C>T	ENST00000326974.4	+	9	1144	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	KLHDC3_ENST00000332245.8_Silent_p.L258L|KLHDC3_ENST00000244670.8_Silent_p.L183L	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	317					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGAGGAAGGCCTGGGAGATGA	0.433000													40	59					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84370110	84370110	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:84370110C>A	ENST00000295488.3	-	3	1179	c.1017G>T	c.(1015-1017)tgG>tgT	p.W339C	HELQ_ENST00000510985.1_Missense_Mutation_p.W339C	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	339							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AAGTATGTTGCCATTCTGTGG	0.323000								Other identified genes with known or suspected DNA repair function					8	17					0.000157383	0.000164584	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													5	134					0	0	1	0	0
LY96	23643	broad.mit.edu	37	8	74922333	74922333	+	Silent	SNP	C	C	T	rs148048520	byFrequency	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:74922333C>T	ENST00000284818.2	+	3	391	c.300C>T	c.(298-300)gaC>gaT	p.D100D	LY96_ENST00000518893.1_Silent_p.D70D	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	100					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GATCTGATGACGATTACTCTT	0.313000													17	64					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78795900	78795900	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:78795900C>T	ENST00000436010.2	-	3	1530	c.533G>A	c.(532-534)aGa>aAa	p.R178K	ROBO1_ENST00000495273.1_Missense_Mutation_p.R178K|ROBO1_ENST00000467549.1_Missense_Mutation_p.R178K|ROBO1_ENST00000464233.1_Missense_Mutation_p.R217K			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	217	Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CACAGTTATTCTTTCATCTTT	0.398000													6	78					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30122024	30122024	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:30122024G>A	ENST00000449742.2	-	7	1243	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	390	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						TCCCCCTTCCGCTGCACATCC	0.677000													10	52					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	407773	407773	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:407773G>C	ENST00000256509.2	+	15	2368	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	CHL1_ENST00000397491.2_Missense_Mutation_p.E560Q|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	560	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGAAGCCTTTGAAATTAATGG	0.353000													9	66					0	0	1	0	0
PSMA6	5687	broad.mit.edu	37	14	35761690	35761690	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:35761690G>A	ENST00000261479.4	+	1	128	c.8G>A	c.(7-9)cGt>cAt	p.R3H	PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000556506.1_Missense_Mutation_p.R3H|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.R3H	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	3					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AACATGTCCCGTGGTTCCAGC	0.572000													37	127					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								7	78					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496176	52496176	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:52496176G>A	ENST00000602063.1	-	6	2502	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V|ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGACAAGTGCGCAAAAGCTTT	0.438000													4	197					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80743272	80743272	+	Missense_Mutation	SNP	C	C	T	rs138280339		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:80743272C>T	ENST00000533983.1	+	3	389	c.50C>T	c.(49-51)gCg>gTg	p.A17V	ARNT2_ENST00000303329.4_Missense_Mutation_p.A28V|ARNT2_ENST00000527771.1_Missense_Mutation_p.A17V			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	28					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCCCCCATGGCGGCCACCGGA	0.567000													5	281					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706000													4	233					5.18039e-06	5.63852e-06	1	1	0
FOXM1	2305	broad.mit.edu	37	12	2968077	2968077	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:2968077C>T	ENST00000342628.2	-	10	2246	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P	FOXM1_ENST00000361953.3_Silent_p.P658P|FOXM1_ENST00000359843.3_Silent_p.P673P|ITFG2_ENST00000545509.1_Intron	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	673					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGAGCCTTTGCGGTGATTCAA	0.592000													4	134					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													4	124					0	0	1	0	0
PSMD13	5719	broad.mit.edu	37	11	250804	250804	+	Splice_Site	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:250804C>G	ENST00000532097.1	+	10	1280	c.774_splice	c.e10-1	p.P259_splice	PSMD13_ENST00000431206.2_Splice_Site_p.P261_splice|PSMD13_ENST00000352303.5_Splice_Site_p.P259_splice	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	259	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		ACTTTACAGCCTGATTTAGCA	0.423000											OREG0020657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	59					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90313650	90313650	+	Silent	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:90313650G>T	ENST00000469640.2	+	23	3066	c.2691G>T	c.(2689-2691)ccG>ccT	p.P897P	DAPK1_ENST00000408954.3_Silent_p.P897P|DAPK1_ENST00000358077.5_Silent_p.P897P|DAPK1_ENST00000491893.1_Silent_p.P831P|DAPK1_ENST00000472284.1_Silent_p.P897P			P53355	DAPK1_HUMAN	death-associated protein kinase 1	897					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTCCTCGACCGGCTGGAGGCG	0.562000									Chronic Lymphocytic Leukemia, Familial Clustering of				5	73					0.0293803	0.0295651	1	1	0
SLC22A10	387775	broad.mit.edu	37	11	63057996	63057996	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:63057996G>T	ENST00000332793.6	+	1	361	c.359G>T	c.(358-360)tGg>tTg	p.W120L	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.W68L|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	120						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGGATGGCTGGGTATATGAT	0.473000													34	99					2.68265e-12	3.06589e-12	1	1	0
ZNF416	55659	broad.mit.edu	37	19	58083969	58083969	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:58083969C>T	ENST00000196489.3	-	4	1525	c.1303G>A	c.(1303-1305)Gct>Act	p.A435T		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A435S(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGGCCTAGCTCCACTGTGA	0.458000													10	102					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	78					0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236389816	236389816	+	Splice_Site	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:236389816C>G	ENST00000354619.5	-	12	1007		c.e12-1			NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)						electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCCCAGGTTTCTAAAGAGAAA	0.358000													9	57					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25255257	25255257	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:25255257C>T	ENST00000216962.4	+	5	668	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	186					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGCTGCGCTACGGCAACCCCT	0.647000													4	162					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	321680	321680	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr18:321680C>T	ENST00000400256.3	-	9	2398	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	731	C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTGTCTTTTTCGCAAATGAAG	0.512000													59	434					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703829	7703829	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:7703829C>T	ENST00000340209.4	+	9	1082	c.785C>T	c.(784-786)cCg>cTg	p.P262L	RBFOX1_ENST00000436368.2_Missense_Mutation_p.P277L|RBFOX1_ENST00000550418.1_Missense_Mutation_p.P257L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P274L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P277L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P230L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P300L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P300L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P277L|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P214L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P257L			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	257					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCAGGCTTCCCGTATCCAGCA	0.701000													4	92					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55146195	55146195	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:55146195G>T	ENST00000396331.1	+	11	1821	c.1464G>T	c.(1462-1464)caG>caT	p.Q488H	LILRB1_ENST00000396327.3_Missense_Mutation_p.Q489H|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q488H|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q488H|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q488H|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q538H|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q489H|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q472H|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q472H|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q488H|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q489H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	488					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ATCGACGTCAGGGCAAACACT	0.607000										HNSCC(37;0.09)			5	270					1.23904e-05	1.32164e-05	1	1	0
GSTA1	2938	broad.mit.edu	37	6	52659006	52659006	+	Missense_Mutation	SNP	C	C	T	rs1051733		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:52659006C>T	ENST00000334575.5	-	5	486	c.331G>A	c.(331-333)Gta>Ata	p.V111I	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	111	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGTGGACATACGGGCAGAAGG	0.393000													4	196					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													7	71					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148916152	148916152	+	Splice_Site	SNP	A	A	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:148916152A>C	ENST00000264613.6	-	9	1976		c.e9+1		CP_ENST00000462336.1_Splice_Site	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGTTGGACTTACCTGTCTCCC	0.333000													7	56					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081280	3081280	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:3081280C>T	ENST00000520002.1	-	29	5013	c.4458G>A	c.(4456-4458)ccG>ccA	p.P1486P	CSMD1_ENST00000400186.3_Silent_p.P1486P|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.P1486P|CSMD1_ENST00000602557.1_Silent_p.P1486P|CSMD1_ENST00000542608.1_Silent_p.P1485P|CSMD1_ENST00000539096.1_Silent_p.P1485P|CSMD1_ENST00000537824.1_Silent_p.P1485P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1486	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACAAAGTCCGGGTTCACTT	0.428000													17	95					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140084081	140084081	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:140084081G>A	ENST00000274712.3	+	5	508	c.381G>A	c.(379-381)gaG>gaA	p.E127E		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	127						nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGTTTTGAGGTCAACAAGA	0.473000													4	110					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76355039	76355039	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:76355039G>A	ENST00000263187.3	+	16	2315	c.2211G>A	c.(2209-2211)atG>atA	p.M737I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	737					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CAACATTTATGAAAGAAATGA	0.269000								Mismatch excision repair (MMR)					8	46					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116577905	116577905	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:116577905A>T	ENST00000369503.4	+	7	1172	c.1042A>T	c.(1042-1044)Att>Ttt	p.I348F	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	348					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTCATAGAGATTCCATCTTA	0.443000													5	60					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98848918	98848918	+	RNA	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:98848918G>T	ENST00000554295.1	-	0	2005					NR_033801.1																						GTACACCTGGGGACTGGTCAG	0.547000													5	16					0.00116845	0.00118324	1	1	0
IKZF3	22806	broad.mit.edu	37	17	37947745	37947745	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:37947745T>G	ENST00000346872.3	-	5	577	c.516A>C	c.(514-516)aaA>aaC	p.K172N	IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000535189.1_Missense_Mutation_p.K138N|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.K172N|IKZF3_ENST00000377958.2_Missense_Mutation_p.K85N|IKZF3_ENST00000350532.3_Missense_Mutation_p.K172N|IKZF3_ENST00000351680.3_Missense_Mutation_p.K172N|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.K138N	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	172					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACTTAAAAGGTTTTTCCCCTG	0.458000													54	144					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47532717	47532717	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr21:47532717G>T	ENST00000300527.4	+	4	818		c.e4-1		COL6A2_ENST00000409416.1_Splice_Site|COL6A2_ENST00000460886.1_Splice_Site|COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000397763.1_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTTTTCTGCAGAAACACGAAG	0.642000													13	105					1.49906e-05	1.58841e-05	1	1	0
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:43318571G>A	ENST00000374518.4	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393000													5	164					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362197	49362197	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:49362197G>A	ENST00000263265.6	-	8	1447	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R298C|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	298	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGTCCTCGGCGGGGAGTAGGG	0.662000													4	124					0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125453573	125453573	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:125453573C>T	ENST00000278903.6	+	12	1257	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	340					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TACTGCAGGTCACTGAGTTGC	0.592000													3	19					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74010655	74010655	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:74010655T>C	ENST00000301607.3	-	18	2478	c.2225A>G	c.(2224-2226)gAg>gGg	p.E742G	EVPL_ENST00000586740.1_Missense_Mutation_p.E764G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	742	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CACCACCTTCTCCCTGCAGGA	0.652000													14	57					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742824	10742824	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:10742824T>A	ENST00000586078.1	+	10	924	c.815T>A	c.(814-816)cTg>cAg	p.L272Q	SLC44A2_ENST00000407327.4_Missense_Mutation_p.L270Q|SLC44A2_ENST00000335757.5_Missense_Mutation_p.L272Q	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	272					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATTCTGGTGCTGGGCTACGGT	0.542000													47	116					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	886508	886508	+	Splice_Site	DEL	T	T	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:886508delT	ENST00000327044.6	-	12	1491	c.1443_splice	c.e12+1	p.E481_splice		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	481						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCACTCACCTCCAGGATGAA	0.657													2	4	---	---	---	---					
AKR7L	246181	broad.mit.edu	37	1	19596945	19596946	+	RNA	INS	-	-	TGG			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:19596945_19596946insTGG	ENST00000420396.2	-	0	505_506				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGGCCCTCACCTGGTACACAGT	0.619													17	78	---	---	---	---					
LRRC40	55631	broad.mit.edu	37	1	70639354	70639354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:70639354delA	ENST00000370952.3	-	8	1095	c.1016delT	c.(1015-1017)tgfs	p.L339fs		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	339										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTCTAATGCCAAAAATTTCAA	0.294													2	4	---	---	---	---					
SLIT3	6586	broad.mit.edu	37	5	168179996	168179996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:168179996delG	ENST00000519560.1	-	18	2356	c.1937delC	c.(1936-1938)ctfs	p.P646fs	SLIT3_ENST00000404867.3_Frame_Shift_Del_p.P646fs|SLIT3_ENST00000332966.8_Frame_Shift_Del_p.P646fs	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	646					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGGCCCCAGGGGTGATGGT	0.577													16	48	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176638999	176639006	+	Frame_Shift_Del	DEL	GGGATGAG	GGGATGAG	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:176638999_176639006delGGGATGAG	ENST00000439151.2	+	5	3644_3651	c.3599_3606delGGGATGAG	c.(3598-3606)cfs	p.RDE1200fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.RDE931fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.RDE931fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.RDE1097fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1200					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGGAGGGGCGGGATGAGTTTCCAGAGC	0.476			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	74	---	---	---	---					
RUSC2	9853	broad.mit.edu	37	9	35560102	35560104	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:35560102_35560104delGCT	ENST00000455600.1	+	10	4034_4036	c.3465_3467delGCT	c.(3463-3468)gag>ga	p.EL1155del		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1155	RUN.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTGAAGAGCTGCTGCTGCTG	0.616													7	620	---	---	---	---					
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:130953109_130953111delGCT	ENST00000538431.1	-	2	273_275	c.26_28delAGC	c.(25-30)ctc>c	p.QL9del	CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	9	Gln-rich.			Missing (in Ref. 7; AAF23231).		nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611													3	3	---	---	---	---					
FAM101A	144347	broad.mit.edu	37	12	124762486	124762488	+	RNA	DEL	CCT	CCT	-	rs56853585		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:124762486_124762488delCCT	ENST00000540762.1	+	0	444																											tctccacccccctcctcctcctc	0.596													2	4	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													3	6	---	---	---	---					
LOC63930	63930	broad.mit.edu	37	20	61680569	61680570	+	RNA	DEL	CC	CC	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:61680569_61680570delCC	ENST00000607802.1	+	0	91				RP11-305P22.5_ENST00000455711.1_lincRNA	NR_033370.1																						tcctcttcctcccctcctcctc	0.614													2	4	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							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)					TTAAAAGGTAAacacacacaca	0.411													3	6	---	---	---	---					
