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
TEX15	56154	broad.mit.edu	37	8	30694875	30694875	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:30694875C>T	ENST00000256246.2	-	3	7850	c.7776G>A	c.(7774-7776)gtG>gtA	p.V2592V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2592										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGTATGCACAGTATTGG	0.378000													61	100					0	0	0.870114	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509419	106509419	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:106509419C>A	ENST00000359195.3	+	2	1723	c.1413C>A	c.(1411-1413)caC>caA	p.H471Q	PIK3CG_ENST00000496166.1_Missense_Mutation_p.H471Q|PIK3CG_ENST00000440650.2_Missense_Mutation_p.H471Q	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	471					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATAGACCACCGTTTCCTCC	0.532000													46	75					1.62263e-30	2.01599e-30	0.870114	1	0
SCN3B	55800	broad.mit.edu	37	11	123513260	123513260	+	Silent	SNP	G	G	A	rs142613556		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:123513260G>A	ENST00000392770.2	-	3	1141	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SCN3B_ENST00000299333.3_Silent_p.N113N|SCN3B_ENST00000530277.1_Silent_p.N113N	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	113	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GGCCAGAGTCGTTCAGAGTGA	0.602000													5	97					0	0	0.217242	0	0
DOCK4	9732	broad.mit.edu	37	7	111484884	111484884	+	Silent	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:111484884A>G	ENST00000428084.1	-	25	2943	c.2671T>C	c.(2671-2673)Ttg>Ctg	p.L891L	DOCK4_ENST00000437633.1_Silent_p.L891L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	891					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGATCTCCAATATGGTCCTC	0.463000													9	174					0	0	0.307466	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196616	58196616	+	Silent	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:58196616G>C	ENST00000483681.1	-	3	599	c.18C>G	c.(16-18)gcC>gcG	p.A6A	DNASE1L3_ENST00000318316.3_Silent_p.A6A|DNASE1L3_ENST00000486455.1_Silent_p.A6A|DNASE1L3_ENST00000394549.2_Silent_p.A6A			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	6					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCAGCAGTGGGGCCAGCTCCC	0.587000													36	57					0	0	0.779181	0	0
ZFAND1	79752	broad.mit.edu	37	8	82614952	82614952	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:82614952T>A	ENST00000220669.5	-	8	803	c.785A>T	c.(784-786)aAt>aTt	p.N262I	ZFAND1_ENST00000522520.1_Missense_Mutation_p.N155I|ZFAND1_ENST00000521895.1_3'UTR|ZFAND1_ENST00000521287.1_Missense_Mutation_p.N155I|ZFAND1_ENST00000523096.1_Missense_Mutation_p.N255I|ZFAND1_ENST00000519338.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	262							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGATTCAACATTTTTACAGAA	0.294000													48	73					0	0	0.864702	0	0
TBC1D25	4943	broad.mit.edu	37	X	48403341	48403341	+	Silent	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chrX:48403341C>A	ENST00000376771.4	+	3	659	c.318C>A	c.(316-318)ctC>ctA	p.L106L	TBC1D25_ENST00000481090.1_Intron|TBC1D25_ENST00000427713.1_Intron|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	106						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTGGGACCTCAGCACAGCCT	0.562000													3	34					0.004672	0.00563388	0.115264	1	0
TMPO	7112	broad.mit.edu	37	12	98927427	98927427	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:98927427T>C	ENST00000266732.4	+	4	1630	c.1392T>C	c.(1390-1392)gtT>gtC	p.V464V	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000261210.5_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAAAACTGTTGTCTCTCATT	0.423000													37	57					0	0	0.788014	0	0
VSIG2	23584	broad.mit.edu	37	11	124618648	124618648	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:124618648C>T	ENST00000403470.1	-	5	653	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	VSIG2_ENST00000326621.5_Missense_Mutation_p.G200S			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	200	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		ATGAGCTGGCCAGACACCTCA	0.537000													19	28					0	0	0.557998	0	0
CES4A	283848	broad.mit.edu	37	16	67040714	67040714	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr16:67040714G>A	ENST00000326686.5	+	13	1511	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CES4A_ENST00000338718.4_Intron|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000397205.2_Intron|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	504						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AACTTTGCCCGCACAGGGTGA	0.567000													5	89					0	0	0.184627	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	66					0	0	0.779181	0	0
CCDC39	339829	broad.mit.edu	37	3	180334307	180334307	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:180334307T>C	ENST00000442201.2	-	18	2702	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	861					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTATTACCTGTTGAAAGTATG	0.264000													24	30					0	0	0.667858	0	0
DBT	1629	broad.mit.edu	37	1	100681607	100681607	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:100681607A>G	ENST00000370132.3	-	6	717	c.704T>C	c.(703-705)aTg>aCg	p.M235T	DBT_ENST00000370131.3_Missense_Mutation_p.M235T	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	235					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGGAACAGTCATGTCTTTTGG	0.373000													114	175					0	0	0.870114	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13093	13093	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chrM:13093G>A	ENST00000361567.2	+	1	757	c.757G>A	c.(757-759)Gtt>Att	p.V253I				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	253			V -> A (in MT-C1D).		mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CAAGCACTATAGTTGTAGCAG	0.522000													105	127					0	0	0.870114	0	0
HMGN2P46	0	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr15:45848224G>T	ENST00000409454.1	+	0	1219																											TGCAGATTTTGTTTAGCTTTT	0.318000													8	22					0.00829132	0.00971269	0.361761	1	0
GPNMB	10457	broad.mit.edu	37	7	23293036	23293036	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:23293036G>T	ENST00000258733.4	+	2	476	c.181G>T	c.(181-183)Gtg>Ttg	p.V61L	GPNMB_ENST00000409458.3_Missense_Mutation_p.V61L|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000453162.2_Missense_Mutation_p.V61L|GPNMB_ENST00000381990.2_Missense_Mutation_p.V61L			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	61					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTACCCAGTGTGGAAGCG	0.433000													4	80					0.0215528	0.0245462	0.217242	1	0
SLC4A8	9498	broad.mit.edu	37	12	51855027	51855027	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:51855027G>A	ENST00000453097.2	+	9	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	SLC4A8_ENST00000535225.2_Silent_p.Q298Q|SLC4A8_ENST00000514353.3_Silent_p.Q298Q|SLC4A8_ENST00000394856.1_Silent_p.Q298Q|SLC4A8_ENST00000358657.3_Silent_p.Q378Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	351					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGAAAGGTCAGCAGTACCATG	0.378000													3	54					0	0	0.150653	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421407	62421407	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr20:62421407G>A	ENST00000245663.4	-	2	854	c.704C>T	c.(703-705)cCg>cTg	p.P235L	ZBTB46_ENST00000302995.2_Missense_Mutation_p.P235L|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P235L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGAGACGGTGAAACCTG	0.602000													3	43					0	0	0.115264	0	0
DENND4B	9909	broad.mit.edu	37	1	153906083	153906083	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:153906083C>T	ENST00000361217.4	-	20	3624	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1069										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGGGAGTGGCGGGAAGGAGT	0.711000													6	11					0	0	0.248553	0	0
EPPK1	83481	broad.mit.edu	37	8	144940654	144940654	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:144940654G>A	ENST00000525985.1	-	2	6839	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P				P58107	EPIPL_HUMAN	epiplakin 1	2256						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726000													3	39					0	0	0.217242	0	0
RERE	473	broad.mit.edu	37	1	8526058	8526058	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:8526058C>T	ENST00000337907.3	-	12	1764	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	RERE_ENST00000400907.2_Missense_Mutation_p.G377D|RERE_ENST00000400908.2_Missense_Mutation_p.G377D|RERE_ENST00000377464.1_Missense_Mutation_p.G109D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	377	ELM2.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGGGCTTTGCCAGCATCGTA	0.507000													3	45					0	0	0.115264	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220952	20220952	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:20220952A>T	ENST00000361479.5	+	3	807	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.K247*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	247	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		agaagatcccaaagaaaatag	0.313000													32	48					0	0	0.729181	0	0
C2orf78	388960	broad.mit.edu	37	2	74043556	74043556	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr2:74043556C>T	ENST00000409561.1	+	3	2327	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	736										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACATGTTTCTCGGCGGCCAAA	0.537000													8	195					0	0	0.307466	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11718	11718	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chrM:11718G>A	ENST00000361381.2	+	1	959	c.959G>A	c.(958-960)gGg>gAg	p.320_320insE						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						AATCGCCCACGGACTCACATC	0.483000													195	3					0	0	0.870114	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158671	26158671	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr6:26158671T>C	ENST00000289316.2	+	1	298	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S92P	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	92					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GACCATCACCTCCAGGGAGAT	0.627000													62	86					0	0	0.870114	0	0
ADCY2	108	broad.mit.edu	37	5	7707861	7707861	+	Silent	SNP	C	C	T	rs112493968	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr5:7707861C>T	ENST00000338316.4	+	9	1400	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	ADCY2_ENST00000537121.1_Silent_p.G257G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	437					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTGAATGGCGCTTATAAAG	0.413000													49	80					0	0	0.870114	0	0
SZT2	23334	broad.mit.edu	37	1	43882304	43882304	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:43882304T>G	ENST00000562955.1	+	7	871	c.871T>G	c.(871-873)Ttt>Gtt	p.F291V		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	291						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCTTGTTCCTTTGTCCAGGT	0.483000													12	8					0	0	0.411799	0	0
SPECC1	92521	broad.mit.edu	37	17	20163561	20163561	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr17:20163561G>A	ENST00000395530.2	+	10	2859	c.2651G>A	c.(2650-2652)cGc>cAc	p.R884H	SPECC1_ENST00000395527.4_Missense_Mutation_p.R965H|SPECC1_ENST00000261503.5_Missense_Mutation_p.R965H|SPECC1_ENST00000536879.1_Missense_Mutation_p.R305H|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	965						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGTTCCAAGCGCAATGCTCTA	0.507000													4	110					0	0	0.150653	0	0
HMCN1	83872	broad.mit.edu	37	1	185969305	185969305	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:185969305G>C	ENST00000271588.4	+	26	4232	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1335Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1335	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAATGGGGAGTACATCTG	0.418000													67	68					0	0	0.870114	0	0
CEP290	80184	broad.mit.edu	37	12	88514828	88514828	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:88514828C>T	ENST00000552810.1	-	14	1648	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Silent_p.R435R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	435					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TATCCTTTTCCCTAGCATCAG	0.358000													17	44					0	0	0.539581	0	0
TNC	3371	broad.mit.edu	37	9	117783441	117783441	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr9:117783441C>T	ENST00000350763.4	-	28	7012	c.6601G>A	c.(6601-6603)Gca>Aca	p.A2201T	TNC_ENST00000537320.1_Missense_Mutation_p.A1564T|TNC_ENST00000423613.2_Missense_Mutation_p.A1928T|TNC_ENST00000341037.4_Missense_Mutation_p.A2019T|TNC_ENST00000346706.3_Missense_Mutation_p.A1655T|TNC_ENST00000345230.3_Missense_Mutation_p.A1564T|TNC_ENST00000340094.3_Missense_Mutation_p.A1837T|TNC_ENST00000542877.1_Missense_Mutation_p.A1838T|TNC_ENST00000535648.1_Missense_Mutation_p.A1746T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2201					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGAATTTATGCCCGTTTGCGC	0.502000													3	40					0	0	0.115264	0	0
C1orf115	79762	broad.mit.edu	37	1	220869983	220869983	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:220869983C>T	ENST00000294889.5	+	2	897	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	113						integral to membrane				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		TCAAAGGATGCCGCTACGTGG	0.512000													5	156					0	0	0.184627	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936076	94936076	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr14:94936076G>A	ENST00000337425.5	-	2	230	c.156C>T	c.(154-156)tcC>tcT	p.S52S	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000298845.7_Silent_p.S52S|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Silent_p.S34S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	34					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTTTGTGGAGGAAGGGCGGG	0.562000													27	50					0	0	0.717897	0	0
NALCN	259232	broad.mit.edu	37	13	101735461	101735461	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:101735461C>T	ENST00000251127.6	-	32	3753	c.3672G>A	c.(3670-3672)tcG>tcA	p.S1224S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1224						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCAACACCGACTGGGCCA	0.413000													25	42					0	0	0.667858	0	0
TEX15	56154	broad.mit.edu	37	8	30694875	30694875	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr8:30694875C>T	ENST00000256246.2	-	3	7850	c.7776G>A	c.(7774-7776)gtG>gtA	p.V2592V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2592										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGTATGCACAGTATTGG	0.378000													61	100					0	0	0.870114	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509419	106509419	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:106509419C>A	ENST00000359195.3	+	2	1723	c.1413C>A	c.(1411-1413)caC>caA	p.H471Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.H471Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H471Q	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	471					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATAGACCACCGTTTCCTCC	0.532000													46	75					1.62263e-30	1.99708e-30	0.870114	1	0
DOCK4	9732	broad.mit.edu	37	7	111484884	111484884	+	Silent	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:111484884A>G	ENST00000428084.1	-	25	2943	c.2671T>C	c.(2671-2673)Ttg>Ctg	p.L891L	DOCK4_ENST00000437633.1_Silent_p.L891L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	891					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGATCTCCAATATGGTCCTC	0.463000													9	174					0	0	0.307466	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196616	58196616	+	Silent	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr3:58196616G>C	ENST00000483681.1	-	3	599	c.18C>G	c.(16-18)gcC>gcG	p.A6A	DNASE1L3_ENST00000486455.1_Silent_p.A6A|DNASE1L3_ENST00000394549.2_Silent_p.A6A|DNASE1L3_ENST00000318316.3_Silent_p.A6A			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	6					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCAGCAGTGGGGCCAGCTCCC	0.587000													36	57					0	0	0.779181	0	0
ZFAND1	79752	broad.mit.edu	37	8	82614952	82614952	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr8:82614952T>A	ENST00000220669.5	-	8	803	c.785A>T	c.(784-786)aAt>aTt	p.N262I	ZFAND1_ENST00000523096.1_Missense_Mutation_p.N255I|ZFAND1_ENST00000522520.1_Missense_Mutation_p.N155I|ZFAND1_ENST00000521287.1_Missense_Mutation_p.N155I|ZFAND1_ENST00000521895.1_3'UTR|ZFAND1_ENST00000519338.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	262							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGATTCAACATTTTTACAGAA	0.294000													48	73					0	0	0.864702	0	0
TBC1D25	4943	broad.mit.edu	37	X	48403341	48403341	+	Silent	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chrX:48403341C>A	ENST00000376771.4	+	3	659	c.318C>A	c.(316-318)ctC>ctA	p.L106L	TBC1D25_ENST00000427713.1_Intron|TBC1D25_ENST00000481090.1_Intron|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	106						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTGGGACCTCAGCACAGCCT	0.562000													3	34					0.004672	0.00546966	0.115264	1	0
TMPO	7112	broad.mit.edu	37	12	98927427	98927427	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr12:98927427T>C	ENST00000266732.4	+	4	1630	c.1392T>C	c.(1390-1392)gtT>gtC	p.V464V	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAAAACTGTTGTCTCTCATT	0.423000													37	57					0	0	0.788014	0	0
VSIG2	23584	broad.mit.edu	37	11	124618648	124618648	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:124618648C>T	ENST00000403470.1	-	5	653	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	VSIG2_ENST00000326621.5_Missense_Mutation_p.G200S			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	200	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		ATGAGCTGGCCAGACACCTCA	0.537000													19	28					0	0	0.557998	0	0
CES4A	283848	broad.mit.edu	37	16	67040714	67040714	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr16:67040714G>A	ENST00000326686.5	+	13	1511	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CES4A_ENST00000397205.2_Intron|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	504						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AACTTTGCCCGCACAGGGTGA	0.567000													5	89					0	0	0.184627	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	66					0	0	0.779181	0	0
CCDC39	339829	broad.mit.edu	37	3	180334307	180334307	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr3:180334307T>C	ENST00000442201.2	-	18	2702	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	861					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTATTACCTGTTGAAAGTATG	0.264000													24	30					0	0	0.667858	0	0
DBT	1629	broad.mit.edu	37	1	100681607	100681607	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:100681607A>G	ENST00000370132.3	-	6	717	c.704T>C	c.(703-705)aTg>aCg	p.M235T	DBT_ENST00000370131.3_Missense_Mutation_p.M235T	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	235					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGGAACAGTCATGTCTTTTGG	0.373000													114	175					0	0	0.870114	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13093	13093	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chrM:13093G>A	ENST00000361567.2	+	1	757	c.757G>A	c.(757-759)Gtt>Att	p.V253I				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	253			V -> A (in MT-C1D).		mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CAAGCACTATAGTTGTAGCAG	0.522000													105	127					0	0	0.870114	0	0
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443000													7	10					0	0	0.248553	0	0
DENND4B	9909	broad.mit.edu	37	1	153906083	153906083	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:153906083C>T	ENST00000361217.4	-	20	3624	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1069										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGGGAGTGGCGGGAAGGAGT	0.711000													6	11					0	0	0.248553	0	0
GPNMB	10457	broad.mit.edu	37	7	23293036	23293036	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:23293036G>T	ENST00000258733.4	+	2	476	c.181G>T	c.(181-183)Gtg>Ttg	p.V61L	GPNMB_ENST00000409458.3_Missense_Mutation_p.V61L|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000453162.2_Missense_Mutation_p.V61L|GPNMB_ENST00000381990.2_Missense_Mutation_p.V61L			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	61					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTACCCAGTGTGGAAGCG	0.433000													4	80					0.0215528	0.0246317	0.217242	1	0
SLC4A8	9498	broad.mit.edu	37	12	51855027	51855027	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr12:51855027G>A	ENST00000453097.2	+	9	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	SLC4A8_ENST00000358657.3_Silent_p.Q378Q|SLC4A8_ENST00000514353.3_Silent_p.Q298Q|SLC4A8_ENST00000535225.2_Silent_p.Q298Q|SLC4A8_ENST00000394856.1_Silent_p.Q298Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	351					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGAAAGGTCAGCAGTACCATG	0.378000													3	54					0	0	0.150653	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421407	62421407	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr20:62421407G>A	ENST00000245663.4	-	2	854	c.704C>T	c.(703-705)cCg>cTg	p.P235L	ZBTB46_ENST00000302995.2_Missense_Mutation_p.P235L|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P235L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGAGACGGTGAAACCTG	0.602000													3	43					0	0	0.115264	0	0
SCN3B	55800	broad.mit.edu	37	11	123513260	123513260	+	Silent	SNP	G	G	A	rs142613556		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:123513260G>A	ENST00000392770.2	-	3	1141	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SCN3B_ENST00000530277.1_Silent_p.N113N|SCN3B_ENST00000299333.3_Silent_p.N113N	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	113	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GGCCAGAGTCGTTCAGAGTGA	0.602000													5	97					0	0	0.217242	0	0
EPPK1	83481	broad.mit.edu	37	8	144940654	144940654	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr8:144940654G>A	ENST00000525985.1	-	2	6839	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P				P58107	EPIPL_HUMAN	epiplakin 1	2256						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726000													3	39					0	0	0.217242	0	0
RERE	473	broad.mit.edu	37	1	8526058	8526058	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:8526058C>T	ENST00000337907.3	-	12	1764	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	RERE_ENST00000400908.2_Missense_Mutation_p.G377D|RERE_ENST00000400907.2_Missense_Mutation_p.G377D|RERE_ENST00000377464.1_Missense_Mutation_p.G109D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	377	ELM2.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGGGCTTTGCCAGCATCGTA	0.507000													3	45					0	0	0.115264	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220952	20220952	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr13:20220952A>T	ENST00000361479.5	+	3	807	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.K247*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	247	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		agaagatcccaaagaaaatag	0.313000													32	48					0	0	0.729181	0	0
C2orf78	388960	broad.mit.edu	37	2	74043556	74043556	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr2:74043556C>T	ENST00000409561.1	+	3	2327	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	736										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACATGTTTCTCGGCGGCCAAA	0.537000													8	195					0	0	0.307466	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11718	11718	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chrM:11718G>A	ENST00000361381.2	+	1	959	c.959G>A	c.(958-960)gGg>gAg	p.320_320insE						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						AATCGCCCACGGACTCACATC	0.483000													195	3					0	0	0.870114	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158671	26158671	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr6:26158671T>C	ENST00000289316.2	+	1	298	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S92P	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	92					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GACCATCACCTCCAGGGAGAT	0.627000													62	86					0	0	0.870114	0	0
ADCY2	108	broad.mit.edu	37	5	7707861	7707861	+	Silent	SNP	C	C	T	rs112493968	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr5:7707861C>T	ENST00000338316.4	+	9	1400	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	ADCY2_ENST00000537121.1_Silent_p.G257G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	437					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTGAATGGCGCTTATAAAG	0.413000													49	80					0	0	0.870114	0	0
LYZL2	119180	broad.mit.edu	37	10	30915158	30915158	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr10:30915158G>T	ENST00000375318.2	-	3	368	c.312C>A	c.(310-312)aaC>aaA	p.N104K		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	58					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GGGCTGTGGTGTTGTAGCCGC	0.552000													4	28					1.23904e-05	1.48685e-05	0.184627	1	0
SZT2	23334	broad.mit.edu	37	1	43882304	43882304	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:43882304T>G	ENST00000562955.1	+	7	871	c.871T>G	c.(871-873)Ttt>Gtt	p.F291V		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	291						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCTTGTTCCTTTGTCCAGGT	0.483000													12	8					0	0	0.411799	0	0
SPECC1	92521	broad.mit.edu	37	17	20163561	20163561	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr17:20163561G>A	ENST00000395530.2	+	10	2859	c.2651G>A	c.(2650-2652)cGc>cAc	p.R884H	SPECC1_ENST00000395527.4_Missense_Mutation_p.R965H|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.R965H|SPECC1_ENST00000536879.1_Missense_Mutation_p.R305H	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	965						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGTTCCAAGCGCAATGCTCTA	0.507000													4	110					0	0	0.150653	0	0
HMCN1	83872	broad.mit.edu	37	1	185969305	185969305	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:185969305G>C	ENST00000271588.4	+	26	4232	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1335Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1335	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAATGGGGAGTACATCTG	0.418000													67	68					0	0	0.870114	0	0
CEP290	80184	broad.mit.edu	37	12	88514828	88514828	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr12:88514828C>T	ENST00000552810.1	-	14	1648	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Silent_p.R435R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	435					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TATCCTTTTCCCTAGCATCAG	0.358000													17	44					0	0	0.539581	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643252	1643252	+	Silent	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:1643252A>G	ENST00000399682.1	-	1	116	c.72T>C	c.(70-72)tgT>tgC	p.C24C		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	24						keratin filament		p.C24C(5)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		agccagagccacagcccccac	0.687000													4	33					0	0	0.184627	0	0
TNC	3371	broad.mit.edu	37	9	117783441	117783441	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr9:117783441C>T	ENST00000350763.4	-	28	7012	c.6601G>A	c.(6601-6603)Gca>Aca	p.A2201T	TNC_ENST00000345230.3_Missense_Mutation_p.A1564T|TNC_ENST00000341037.4_Missense_Mutation_p.A2019T|TNC_ENST00000340094.3_Missense_Mutation_p.A1837T|TNC_ENST00000542877.1_Missense_Mutation_p.A1838T|TNC_ENST00000535648.1_Missense_Mutation_p.A1746T|TNC_ENST00000537320.1_Missense_Mutation_p.A1564T|TNC_ENST00000423613.2_Missense_Mutation_p.A1928T|TNC_ENST00000346706.3_Missense_Mutation_p.A1655T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2201					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGAATTTATGCCCGTTTGCGC	0.502000													3	40					0	0	0.115264	0	0
ZNF534	147658	broad.mit.edu	37	19	52942423	52942423	+	Missense_Mutation	SNP	T	T	A	rs112113280		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr19:52942423T>A	ENST00000332323.6	+	4	1810	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	ZNF534_ENST00000433050.1_Missense_Mutation_p.N570K|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N583K(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GACATAGGAATATTCATACTG	0.438000													5	8					0	0	0.184627	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936076	94936076	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr14:94936076G>A	ENST00000337425.5	-	2	230	c.156C>T	c.(154-156)tcC>tcT	p.S52S	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000380365.3_Silent_p.S34S|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Silent_p.S52S|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	34					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTTTGTGGAGGAAGGGCGGG	0.562000													27	50					0	0	0.717897	0	0
NALCN	259232	broad.mit.edu	37	13	101735461	101735461	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr13:101735461C>T	ENST00000251127.6	-	32	3753	c.3672G>A	c.(3670-3672)tcG>tcA	p.S1224S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1224						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCAACACCGACTGGGCCA	0.413000													25	42					0	0	0.667858	0	0
TRGC1	0	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													8	162	---	---	---	---					
CNPY4	245812	broad.mit.edu	37	7	99722478	99722481	+	Frame_Shift_Del	DEL	AAGC	AAGC	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:99722478_99722481delAAGC	ENST00000262932.3	+	6	846_849	c.714_717delAAGC	c.(712-717)ggfs	p.GS238fs	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	238						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAAGACAGGAAGCCACCCCAAAC	0.554													8	140	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108178672	108178672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:108178672delC	ENST00000278616.4	+	38	6108	c.5723delC	c.(5722-5724)aafs	p.T1908fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.T1908fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1908					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCACAAAGAACAATGCTTGCT	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			23	43	---	---	---	---					
RP11-356C4.5	0	broad.mit.edu	37	16	90204189	90204190	+	RNA	INS	-	-	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr16:90204189_90204190insT	ENST00000565965.1	-	0	235																											TCCCAAAGGAAttttttttttt	0.431													2	4	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													4	6	---	---	---	---					
CNPY4	245812	broad.mit.edu	37	7	99722478	99722481	+	Frame_Shift_Del	DEL	AAGC	AAGC	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:99722478_99722481delAAGC	ENST00000262932.3	+	6	846_849	c.714_717delAAGC	c.(712-717)ggfs	p.GS238fs	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	238						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAAGACAGGAAGCCACCCCAAAC	0.554													8	140	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108178672	108178672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:108178672delC	ENST00000278616.4	+	38	6108	c.5723delC	c.(5722-5724)aafs	p.T1908fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.T1908fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1908					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCACAAAGAACAATGCTTGCT	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			23	43	---	---	---	---					
CADM1	23705	broad.mit.edu	37	11	115375030	115375035	+	In_Frame_Del	DEL	AGCCGG	AGCCGG	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:115375030_115375035delAGCCGG	ENST00000542447.2	-	1	206_211	c.78_83delCCGGCT	c.(76-84)ctt>ct	p.LRL26del	CADM1_ENST00000537058.1_In_Frame_Del_p.LRL26del|CADM1_ENST00000536727.1_In_Frame_Del_p.LRL26del|CADM1_ENST00000452722.2_In_Frame_Del_p.LRL26del|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_In_Frame_Del_p.LRL26del	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	26					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CAACAGCAGAAGCCGGAGCCGGAGCC	0.694													4	6	---	---	---	---					
RP11-522N14.1	0	broad.mit.edu	37	12	124719601	124719603	+	RNA	DEL	CAT	CAT	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr12:124719601_124719603delCAT	ENST00000540762.1	+	0	444																											ccatcatcaccatcaccatcacc	0.488													3	3	---	---	---	---					
ZNF329	79673	broad.mit.edu	37	19	58639340	58639341	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr19:58639340_58639341insG	ENST00000598312.1	-	4	1763_1764	c.1530_1531insC	c.(1528-1533)ccgccgfs	p.P511fs	ZNF329_ENST00000358067.4_Frame_Shift_Ins_p.P511fs	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGACACCGGCTGGGACCCTCCC	0.500													9	242	---	---	---	---