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
ELMSAN1	91748	broad.mit.edu	37	14	74188154	74188154	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr14:74188154C>A	ENST00000286523.5	-	11	3565	c.2783G>T	c.(2782-2784)aGg>aTg	p.R928M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R928M	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GGGCTCCAGCCTCTCTTCACT	0.587000													12	12					3.07112e-06	3.19908e-06	1	1	0
IL5RA	3568	broad.mit.edu	37	3	3146598	3146598	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:3146598G>A	ENST00000446632.2	-	3	645	c.71C>T	c.(70-72)cCt>cTt	p.P24L	IL5RA_ENST00000438560.1_Missense_Mutation_p.P24L|IL5RA_ENST00000311981.8_Missense_Mutation_p.P24L|IL5RA_ENST00000430514.2_Missense_Mutation_p.P24L|IL5RA_ENST00000445864.2_Missense_Mutation_p.P24L|IL5RA_ENST00000256452.3_Missense_Mutation_p.P24L|IL5RA_ENST00000456302.1_Missense_Mutation_p.P24L|IL5RA_ENST00000383846.1_Missense_Mutation_p.P24L|IL5RA_ENST00000418488.2_Missense_Mutation_p.P24L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	24					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CTTTTCATCAGGAAGTAAGTC	0.343000													29	65					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458639	155458639	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:155458639G>A	ENST00000461783.3	+	7	2796	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	508	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGGTGGTCCGGAAGGCCGGG	0.542000													3	70					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20685472	20685472	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:20685472G>A	ENST00000404938.2	+	8	1424	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	444	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AACAGTCATAGCCTTTAGGGC	0.408000													48	49					0	0	1	0	0
FAM103A1	83640	broad.mit.edu	37	15	83657865	83657865	+	Missense_Mutation	SNP	G	G	A	rs150238339		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:83657865G>A	ENST00000304191.3	+	3	316	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Silent_p.G137G	NM_031452.3	NP_113640.1	Q9BTL3	F103A_HUMAN	family with sequence similarity 103, member A1	32										prostate(1)	1						TACCTGAAACGCCCTCCTGAG	0.428000													35	25					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93522490	93522490	+	Silent	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:93522490G>A	ENST00000394196.4	+	22	3921	c.2853G>A	c.(2851-2853)ctG>ctA	p.L951L	CHD2_ENST00000557381.1_Silent_p.L951L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	951					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACGATCCTGGAAAACAACT	0.458000													4	121					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	rs121434595		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:115258745C>G	ENST00000369535.4	-	2	290	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498000	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			55	71					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30673766	30673766	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:30673766G>A	ENST00000376406.3	-	10	3841	c.3194C>T	c.(3193-3195)cCc>cTc	p.P1065L	MDC1_ENST00000376405.2_Missense_Mutation_p.P801L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1065	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGAAAGAAGGGGCGGAGGTGC	0.547000								Other conserved DNA damage response genes					73	97					0	0	1	0	0
CYP51A1	1595	broad.mit.edu	37	7	91747893	91747893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:91747893C>A	ENST00000003100.8	-	8	1288	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E270*	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	369					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTTAATGTTTCTTTTATACAG	0.353000													45	56					2.81731e-22	2.97603e-22	1	1	0
EP400	57634	broad.mit.edu	37	12	132551995	132551995	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr12:132551995C>T	ENST00000333577.4	+	51	9055	c.8946C>T	c.(8944-8946)ccC>ccT	p.P2982P	EP400_ENST00000389561.2_Silent_p.P2946P|EP400_ENST00000389562.2_Silent_p.P2945P|EP400_ENST00000332482.4_Silent_p.P2909P|EP400_ENST00000330386.6_Silent_p.P2865P			Q96L91	EP400_HUMAN	E1A binding protein p400	2982					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCATCCAGCCCCAGGCTGCAC	0.652000													7	57					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36297863	36297863	+	Missense_Mutation	SNP	C	C	T	rs140939742	by1000genomes	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:36297863C>T	ENST00000437635.2	-	2	782	c.605G>A	c.(604-606)cGc>cAc	p.R202H		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	202										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCACCCCTGCGAGCTGGGCC	0.642000													4	91					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16610781	16610781	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:16610781A>G	ENST00000443444.2	+	4	804		c.e4-1		CCDC144A_ENST00000436374.1_Splice_Site|CCDC144A_ENST00000456009.1_Splice_Site|CCDC144A_ENST00000399273.1_Splice_Site|CCDC144A_ENST00000360524.8_Splice_Site|RP11-219A15.1_ENST00000448331.3_Splice_Site|CCDC144A_ENST00000340621.5_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		TGGATTTTGCAGCAGAACAAG	0.313000													17	15					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956124	18956124	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:18956124C>T	ENST00000302797.3	-	1	432	c.208G>A	c.(208-210)Gca>Aca	p.A70T	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	70					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTCTGCTGCGGCCAAGTTG	0.532000													50	106					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				3	34					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489721	124489721	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:124489721A>G	ENST00000284288.2	+	4	1136	c.1069A>G	c.(1069-1071)Acc>Gcc	p.T357A		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	357					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GGATACAACCACCCAGAAGCA	0.433000													46	65					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8973984	8973984	+	Silent	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:8973984G>A	ENST00000397910.4	-	76	42890	c.42687C>T	c.(42685-42687)gaC>gaT	p.D14229D	MUC16_ENST00000380951.5_Silent_p.D870D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14292				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCTGGATGTCCCTCAGCA	0.498000													3	6					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107312617	107312617	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:107312617C>T	ENST00000265715.3	+	4	563	c.339C>T	c.(337-339)gtC>gtT	p.V113V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	113					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAGTTCCTGTCGGATATGGTC	0.378000									Pendred syndrome				97	67					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12231056	12231056	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:12231056G>A	ENST00000256194.4	+	6	890	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	MICAL2_ENST00000379612.3_Missense_Mutation_p.R201Q|MICAL2_ENST00000537344.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000527546.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000342902.5_Missense_Mutation_p.R201Q	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	201						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATTGGCTGGCGGGCAGAATTT	0.507000													38	15					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39969425	39969425	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:39969425G>A	ENST00000321562.4	+	1	243	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	47					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGTGGTCATCGAGAGGTACCA	0.642000													48	52					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902215	40902215	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:40902215C>T	ENST00000324001.7	-	7	2314	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	682	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTGCACCTCGGGGAGTCGA	0.582000													59	130					0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263162	232263162	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:232263162C>T	ENST00000287590.5	+	2	993	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	244					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		ATGACGTCTTCGTCAACCCCA	0.567000													5	62					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135369378	135369378	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr10:135369378C>T	ENST00000368517.3	-	10	655	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	SYCE1_ENST00000432597.2_Missense_Mutation_p.V173M|SYCE1_ENST00000343131.5_Missense_Mutation_p.V209M|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	209					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGATGCTTCACGTCTTCCAGT	0.597000													8	11					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75294484	75294484	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr10:75294484T>C	ENST00000339859.4	-	11	1289	c.1189A>G	c.(1189-1191)Acg>Gcg	p.T397A	USP54_ENST00000428547.1_Missense_Mutation_p.T247A|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.T397A|USP54_ENST00000319786.7_Missense_Mutation_p.T397A			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	397					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TAGCTCTCCGTTGAGGAATCT	0.463000													15	41					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938561	132938561	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:132938561T>A	ENST00000275191.2	-	1	756	c.649A>T	c.(649-651)Aaa>Taa	p.K217*	TAAR2_ENST00000367931.1_Nonsense_Mutation_p.K262*|TAAR2_ENST00000537809.1_Nonsense_Mutation_p.K217*	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	262						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCTAAAGTTTTGGCAGCTTTT	0.328000													12	63					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662000		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)			67	6					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								60	46					1.02016e-41	1.09302e-41	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861983	52861983	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr4:52861983T>A	ENST00000343457.3	-	4	1211	c.1205A>T	c.(1204-1206)gAc>gTc	p.D402V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	402						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCACAGTCTGTCAACATAAGG	0.562000													10	68					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222719	140222719	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:140222719G>A	ENST00000531613.1	+	1	1813	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA8_ENST00000378123.3_Missense_Mutation_p.A605T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTACAACGCGTGGCTTTC	0.677000													31	46					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562000													3	21					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													4	55					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5564756	5564756	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr4:5564756A>G	ENST00000310917.2	-	22	4237	c.3506T>C	c.(3505-3507)aTt>aCt	p.I1169T	EVC2_ENST00000344408.5_Missense_Mutation_p.I1249T|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1249						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTTCGCCAATGGGCTCCAG	0.448000													38	142					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30693147	30693147	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:30693147G>A	ENST00000471646.1	-	12	1582	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000348438.4_Missense_Mutation_p.R416W|CRHR2_ENST00000341843.4_Missense_Mutation_p.R375W	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	389					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.R375R(1)|p.R389R(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACATGGCCCGGGCCATGGGG	0.657000													15	103					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:51900882G>A	ENST00000268919.4	+	1	644	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGGAAAAGCGCAGGCGGCTG	0.547000													22	59					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946625	150946625	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:150946625C>T	ENST00000261800.5	-	1	1880	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	623	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATAAAAGGGCGTTTGAGGGA	0.403000													33	46					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151456	158151456	+	Silent	SNP	T	T	C			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:158151456T>C	ENST00000368171.3	+	3	772	c.273T>C	c.(271-273)taT>taC	p.Y91Y		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	91					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTCGGGTTTATCGAAGCAGCT	0.572000													33	35					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49899533	49899533	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:49899533G>A	ENST00000477224.1	-	3	650	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000488336.1_Missense_Mutation_p.R58W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R58W|CAMKV_ENST00000296471.7_Missense_Mutation_p.R58W|CAMKV_ENST00000466940.1_Missense_Mutation_p.R58W			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	58	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGGCCGTCCCGCTTCTGGAAC	0.592000													3	17					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139740529	139740529	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:139740529C>T	ENST00000230993.6	+	2	470	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SLC4A9_ENST00000506545.1_Silent_p.C121C|SLC4A9_ENST00000506757.2_Silent_p.C121C|SLC4A9_ENST00000432095.2_Silent_p.C121C|SLC4A9_ENST00000507527.1_Silent_p.C145C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	145						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACTGCCCAGCTCAGA	0.657000													7	4					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66384510	66384510	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:66384510C>G	ENST00000329654.4	+	3	460	c.273C>G	c.(271-273)agC>agG	p.S91R	PDE4B_ENST00000371049.3_Missense_Mutation_p.S91R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	91					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CAACTGTAAGCCAGGAGTGGT	0.398000													16	42					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604007	31604007	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:31604007C>T	ENST00000376033.2	+	26	5880	c.5646C>T	c.(5644-5646)ccC>ccT	p.P1882P	PRRC2A_ENST00000376007.4_Silent_p.P1882P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1882						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TATACCTACCCCCCGGCCCAG	0.522000													73	71					0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236645901	236645901	+	Silent	SNP	C	C	T	rs74942492	by1000genomes	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:236645901C>T	ENST00000359362.5	+	6	784	c.570C>T	c.(568-570)gaC>gaT	p.D190D	EDARADD_ENST00000334232.4_Silent_p.D200D	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	200	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGTGGGTGGACGAGGAGTGGC	0.602000													51	51					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95188826	95188826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr8:95188826G>A	ENST00000027335.3	-	5	491	c.367C>T	c.(367-369)Cga>Tga	p.R123*	CDH17_ENST00000441892.2_Nonsense_Mutation_p.R123*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.R123*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	123	Cadherin 1.					integral to membrane	calcium ion binding	p.R123*(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AACGTGGGTCGATTGTCGTTG	0.493000													34	54					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703992	48703992	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:48703992C>T	ENST00000352832.5	+	34	7005	c.6633C>T	c.(6631-6633)agC>agT	p.S2211S	CACNA1G_ENST00000510366.1_Silent_p.S2193S|CACNA1G_ENST00000514079.1_Silent_p.S2252S|CACNA1G_ENST00000429973.2_Silent_p.S2227S|CACNA1G_ENST00000507510.2_Silent_p.S2293S|CACNA1G_ENST00000442258.2_Silent_p.S2204S|CACNA1G_ENST00000507609.1_Silent_p.S2238S|CACNA1G_ENST00000513689.2_Silent_p.S2248S|CACNA1G_ENST00000515165.1_Silent_p.S2245S|CACNA1G_ENST00000358244.5_Silent_p.S2132S|CACNA1G_ENST00000507336.1_Silent_p.S2327S|CACNA1G_ENST00000510115.1_Silent_p.S2259S|CACNA1G_ENST00000515765.1_Silent_p.S2282S|CACNA1G_ENST00000360761.4_Silent_p.S2222S|CACNA1G_ENST00000505165.1_Silent_p.S2166S|CACNA1G_ENST00000507896.1_Silent_p.S2155S|CACNA1G_ENST00000514181.1_Silent_p.S2220S|CACNA1G_ENST00000514717.1_Silent_p.S2188S|CACNA1G_ENST00000512389.1_Silent_p.S2234S|CACNA1G_ENST00000354983.4_Silent_p.S2304S|CACNA1G_ENST00000515411.1_Silent_p.S2275S|CACNA1G_ENST00000359106.5_Silent_p.S2338S|CACNA1G_ENST00000502264.1_Silent_p.S2267S|CACNA1G_ENST00000513964.1_Silent_p.S2200S|CACNA1G_ENST00000503485.1_Silent_p.S2211S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2338					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.S2338R(2)|p.S2304R(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCGTCCAGCGACTCCAAGG	0.637000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	25					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1250944	1250944	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:1250944C>G	ENST00000540437.1	-	7	957	c.502G>C	c.(502-504)Gcc>Ccc	p.A168P	CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.A133P|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A61P|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A162P|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A64P	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	162						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGAACATGGCTGCCCCCAGC	0.607000													4	78					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49366587	49366587	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr20:49366587C>T	ENST00000371610.2	+	3	924	c.681C>T	c.(679-681)agC>agT	p.S227S	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	227	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CAGGGAAGAGCCTTGATCAAG	0.428000													45	63					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180219007	180219007	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:180219007C>T	ENST00000446023.2	-	3	1715	c.965G>A	c.(964-966)gGg>gAg	p.G322E	MGAT1_ENST00000393340.3_Missense_Mutation_p.G322E|MGAT1_ENST00000427865.2_Missense_Mutation_p.G322E|MGAT1_ENST00000333055.3_Missense_Mutation_p.G322E|MGAT1_ENST00000307826.4_Missense_Mutation_p.G322E	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	322					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGAACTGCCCGTGGCTCAC	0.602000													15	48					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47944425	47944425	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:47944425C>T	ENST00000236877.6	-	6	2281		c.e6+1		SLC8A2_ENST00000539381.1_Splice_Site|SLC8A2_ENST00000601757.1_Splice_Site|SLC8A2_ENST00000542837.1_Splice_Site	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2						cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACTTCACTCACCTTGATTGAG	0.577000													18	61					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929632	121929632	+	Silent	SNP	T	T	C			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:121929632T>C	ENST00000265922.3	-	8	2477	c.2016A>G	c.(2014-2016)gcA>gcG	p.A672A	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	672								p.A672A(1)									CCTGCTGCACTGCACTGCGCA	0.542000													54	92					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69364317	69364317	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:69364317A>G	ENST00000342771.4	+	2	676	c.355A>G	c.(355-357)Acg>Gcg	p.T119A	AUTS2_ENST00000403018.2_Missense_Mutation_p.T119A|AUTS2_ENST00000406775.2_Missense_Mutation_p.T119A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	119										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAAACGCCAGACGCCCCTGAC	0.483000													30	27					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118146	4118146	+	Silent	SNP	G	G	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:4118146G>T	ENST00000324333.10	-	3	1060	c.867C>A	c.(865-867)ccC>ccA	p.P289P	GLIS3_ENST00000381971.3_Silent_p.P444P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	289	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		gaggcgcggggggTAGGTCTA	0.736000													9	0					2.17888e-05	2.23857e-05	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29295877	29295877	+	Silent	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:29295877A>G	ENST00000331664.5	-	1	1250	c.1251T>C	c.(1249-1251)gcT>gcC	p.A417A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	417					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTGCCATAGGAGCCCCTGAGA	0.582000													34	59					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23857416	23857416	+	Missense_Mutation	SNP	C	C	T	rs142556730		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr14:23857416C>T	ENST00000405093.3	-	30	4377	c.4307G>A	c.(4306-4308)cGc>cAc	p.R1436H	MYH6_ENST00000356287.3_Missense_Mutation_p.R1436H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1436					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCATTGGAGCGCTCTACGTC	0.587000													20	92					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11157235	11157235	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:11157235C>T	ENST00000337414.4	-	13	3545	c.2673G>A	c.(2671-2673)gcG>gcA	p.A891A	ARHGAP6_ENST00000380736.1_Silent_p.A688A|ARHGAP6_ENST00000303025.6_Silent_p.A688A|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	891					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGCCGCTGCCGCGGGCTTCC	0.701000													6	11					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547099	132547099	+	Silent	SNP	G	G	A	rs145603866	byFrequency	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr12:132547099G>A	ENST00000333577.4	+	48	8404	c.8295G>A	c.(8293-8295)caG>caA	p.Q2765Q	EP400_ENST00000389561.2_Silent_p.Q2729Q|EP400_ENST00000389562.2_Silent_p.Q2728Q|EP400_ENST00000332482.4_Silent_p.Q2692Q|EP400_ENST00000330386.6_Silent_p.Q2648Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2765	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		aacaacagcagcagcagcagc	0.577000													4	49					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127296	45127296	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:45127296C>G	ENST00000296129.1	-	9	2479	c.2345G>C	c.(2344-2346)aGg>aCg	p.R782T		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	782						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGTTGGGGCCCTGGAGCATAT	0.622000													21	22					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63283331	63283331	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:63283331C>G	ENST00000366671.3	+	5	1221	c.945C>G	c.(943-945)gaC>gaG	p.D315E	OTX1_ENST00000282549.2_Missense_Mutation_p.D315E	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	315						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D315E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACTCTGCCGACTGCTTGGATT	0.602000													20	24					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83352828	83352828	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:83352828G>A	ENST00000262752.2	-	19	1812	c.1805C>T	c.(1804-1806)gCt>gTt	p.A602V	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A602V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	602	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GATATCACAAGCAGCATCATA	0.318000													6	172					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501697	12501697	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:12501697C>A	ENST00000419318.1	-	4	2168	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E505D			Q96GE5	ZN799_HUMAN	zinc finger protein 799	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ATGTGTTACACTCATAAGGTT	0.393000													4	121					0.150653	0.152689	1	1	0
PTK6	5753	broad.mit.edu	37	20	62164937	62164937	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr20:62164937G>A	ENST00000217185.2	-	4	664	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PTK6_ENST00000542869.1_Missense_Mutation_p.R112W	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	213	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			ACCTGGACCCGGTCTTTCCAG	0.657000													14	68					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	3	---	---	---	---					
CTNND2	1501	broad.mit.edu	37	5	11411675	11411675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:11411675delC	ENST00000304623.8	-	5	601	c.412delG	c.(412-414)gacfs	p.D138fs	CTNND2_ENST00000359640.2_Frame_Shift_Del_p.D138fs|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	138					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCCTGTGGGTCAAGTATTCCT	0.373													50	53	---	---	---	---					
RECK	8434	broad.mit.edu	37	9	36091312	36091315	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:36091312_36091315delCTTA	ENST00000377966.3	+	10	1623_1626	c.1057_1060delCTTA	c.(1057-1062)cttactfs	p.LT353fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	353						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CTGTAGAAACCTTACTTACTGTAC	0.343													54	76	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547													7	82	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			8	8	---	---	---	---					
