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
DHRS13	147015	broad.mit.edu	37	17	27225771	27225771	+	Silent	SNP	G	G	A	rs146651013		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:27225771G>A	ENST00000394901.3	-	4	1064	c.672C>T	c.(670-672)atC>atT	p.I224I	DHRS13_ENST00000378895.4_Silent_p.I274I|DHRS13_ENST00000426464.2_Silent_p.I193I|RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	274						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGAGGGGCTCGATGCCCTCTT	0.627000													5	24					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28519457	28519457	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:28519457G>A	ENST00000261609.7	-	7	888	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	260					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGGACCTGAGGAACCTGGTCG	0.602000													5	38					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781897	128781897	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:128781897G>A	ENST00000529694.1	+	2	1105	c.729G>A	c.(727-729)caG>caA	p.Q243Q	KCNJ5_ENST00000338350.4_Silent_p.Q243Q|KCNJ5_ENST00000533599.1_Silent_p.Q243Q	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	243					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGTCCCGGCAGACCAAAGAGG	0.607000													28	86					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93185098	93185098	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:93185098G>A	ENST00000393218.2	-	4	567	c.230C>T	c.(229-231)tCt>tTt	p.S77F	LGMN_ENST00000555699.1_Missense_Mutation_p.S77F|LGMN_ENST00000557434.1_Missense_Mutation_p.S77F|LGMN_ENST00000334869.4_Missense_Mutation_p.S77F	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	77					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TTACTCTTCAGAGTAAGCAAT	0.473000													9	31					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255394	5255394	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:5255394C>T	ENST00000380299.3	-	2	356	c.142G>A	c.(142-144)Gat>Aat	p.D48N	HBD_ENST00000292901.3_Missense_Mutation_p.D48N	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	48			D -> V (in Parkville; dbSNP:rs34977235).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGACAGATCCCCAAAGGAC	0.522000													26	78					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32816429	32816429	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:32816429C>T	ENST00000354258.4	-	7	1907	c.1746_splice	c.e7+1	p.Q582_splice	TAP1_ENST00000425148.2_Splice_Site_p.Q321_splice|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	582	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TAGGTTGTACCTGTAGCACTA	0.507000													24	137					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36179621	36179621	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:36179621C>T	ENST00000303965.4	-	9	2174	c.1685G>A	c.(1684-1686)aGa>aAa	p.R562K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	562	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCAGTCATTTCTCTCCTCTGA	0.378000													6	40					0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20978836	20978836	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:20978836T>G	ENST00000430083.1	+	2	694	c.290T>G	c.(289-291)gTg>gGg	p.V97G	RNASE10_ENST00000328444.5_Missense_Mutation_p.V69G			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	69						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GAAACGCTGGTGCTTAGCAAC	0.537000													20	59					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431321	135431321	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:135431321C>T	ENST00000394143.1	+	6	5747	c.5456C>T	c.(5455-5457)tCa>tTa	p.S1819L	GPR112_ENST00000287534.4_Missense_Mutation_p.S1756L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1819L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1614L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1614L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1819					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCCCTGTTTCATACCCTCCA	0.403000													33	37					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822207	129822207	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:129822207T>G	ENST00000422113.2	-	4	1597	c.1271A>C	c.(1270-1272)gAc>gCc	p.D424A		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	424						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCAATCAAGTCCTTTGGGCT	0.612000													28	152					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	77					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25266340	25266340	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:25266340G>A	ENST00000276440.7	+	50	5332	c.5288G>A	c.(5287-5289)aGg>aAg	p.R1763K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1763						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AAAGCACAAAGGCCAAAGAGT	0.488000													7	29					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150795679	150795679	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:150795679G>A	ENST00000358595.5	-	14	1585	c.1385C>T	c.(1384-1386)aCc>aTc	p.T462I	ARNT_ENST00000354396.2_Missense_Mutation_p.T462I|ARNT_ENST00000505755.1_Missense_Mutation_p.T447I|ARNT_ENST00000515192.1_Missense_Mutation_p.T448I	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	462	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTCACATTGGTGTTGGTACA	0.408000			T	ETV6	AML								37	66					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780633	88780633	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:88780633G>A	ENST00000418177.2	-	2	775	c.408C>T	c.(406-408)tcC>tcT	p.S136S	GRM5_ENST00000393294.3_Silent_p.S136S|GRM5_ENST00000455756.2_Silent_p.S136S|GRM5_ENST00000305447.4_Silent_p.S136S|GRM5_ENST00000305432.5_Silent_p.S136S|GRM5_ENST00000393297.1_Silent_p.S136S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	136					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGGAGCGGAAGGAAGAGGAGG	0.507000													17	54					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44843419	44843419	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:44843419C>T	ENST00000326047.4	+	13	1611	c.1462C>T	c.(1462-1464)Cgt>Tgt	p.R488C	KIF15_ENST00000425755.1_Missense_Mutation_p.R123C	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	488					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGAGCAGGATCGTTTGCTCTC	0.378000													7	22					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26902769	26902769	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:26902769T>C	ENST00000407690.1	-	5	618	c.335A>G	c.(334-336)aAg>aGg	p.K112R	TFIP11_ENST00000405938.1_Missense_Mutation_p.K112R|TFIP11_ENST00000407148.1_Missense_Mutation_p.K112R|TFIP11_ENST00000407431.1_Missense_Mutation_p.K112R	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	112					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TCCAAAATCCTTAGGAAAGTC	0.473000													24	72					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127336856	127336856	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:127336856C>T	ENST00000265056.7	+	12	2189	c.1945C>T	c.(1945-1947)Ctc>Ttc	p.L649F	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	649	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GAACGTGGACCTCACAGAGCC	0.572000													10	27					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238004	132238004	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:132238004G>A	ENST00000321253.6	+	4	845	c.738G>A	c.(736-738)ggG>ggA	p.G246G		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	246					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GATTTGATGGGGCCCTGAATG	0.582000													17	105					0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78385034	78385034	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:78385034G>A	ENST00000328828.5	+	1	108	c.108G>A	c.(106-108)gaG>gaA	p.E36E	SH2D7_ENST00000409568.2_Intron	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	36										endometrium(2)|kidney(2)|lung(3)	7						GGTTCATGGAGACACAGGCCC	0.597000													4	11					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923199	159923199	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:159923199G>A	ENST00000368093.3	-	2	407	c.291C>T	c.(289-291)atC>atT	p.I97I	SLAMF9_ENST00000368092.3_Silent_p.I97I|SLAMF9_ENST00000466773.1_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	97						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGATTGCTGATATGCAGGG	0.512000													12	73					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553250	106553250	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:106553250G>A	ENST00000369096.4	+	5	1449	c.1215G>A	c.(1213-1215)tcG>tcA	p.S405S	PRDM1_ENST00000369091.2_Silent_p.S369S|PRDM1_ENST00000369089.3_Silent_p.S271S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	405					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCATCCCCTCGTACAACGCTC	0.582000			"""D, N, Mis, F, S"""		DLBCL								16	50					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78927802	78927802	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:78927802G>A	ENST00000261751.3	-	2	294	c.183C>T	c.(181-183)tcC>tcT	p.S61S	CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Silent_p.S61S	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	61					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GCTGGGCCAGGGAGAGCTGCA	0.577000													22	103					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14034382	14034382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:14034382C>T	ENST00000318003.7	+	16	2027	c.1786C>T	c.(1786-1788)Caa>Taa	p.Q596*	CC2D1A_ENST00000589606.1_Nonsense_Mutation_p.Q596*	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	596					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCACTCAAACCAATTCACCCA	0.607000													27	88					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432634	104432634	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:104432634A>T	ENST00000361820.3	-	3	2660	c.2060T>A	c.(2059-2061)aTc>aAc	p.I687N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	687					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GACGGCAGTGATGTGCAGAGC	0.502000													31	71					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964611	123964611	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:123964611G>A	ENST00000314393.4	+	3	1696	c.861G>A	c.(859-861)ccG>ccA	p.P287P		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	287	Required for homodimerization.|Required for interaction with NFYA.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCCTTACCCGACCCAGGCTG	0.507000													27	75					0	0	1	0	0
C2orf50	130813	broad.mit.edu	37	2	11273482	11273482	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:11273482G>A	ENST00000381585.3	+	1	304	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	C2orf50_ENST00000405022.3_Missense_Mutation_p.G8R			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	8										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		CCCCACCCCTGGGCTCCAGAG	0.642000													6	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432171	179432171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179432171C>A	ENST00000589042.1	-	326	78912	c.78688G>T	c.(78688-78690)Gga>Tga	p.G26230*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.G24589*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.G17165*|TTN_ENST00000342175.6_Nonsense_Mutation_p.G17357*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.G17290*|TTN_ENST00000342992.6_Nonsense_Mutation_p.G23662*|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24589	Fibronectin type-III 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTATCTCCTCTTAACCAC	0.383000													19	61					8.28177e-16	8.42864e-16	1	1	0
BRAP	8315	broad.mit.edu	37	12	112116993	112116993	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:112116993G>A	ENST00000419234.4	-	4	788	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	BRAP_ENST00000327551.6_Missense_Mutation_p.P169S|BRAP_ENST00000539060.1_Missense_Mutation_p.P58S	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	199					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TATTGGTTGGGAGTAGAGTCT	0.358000													9	34					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8157353	8157353	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:8157353T>C	ENST00000314666.6	+	2	231	c.98T>C	c.(97-99)cTg>cCg	p.L33P	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	33					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGCCAGAGCTGCAGGGCGTC	0.587000													20	37					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123540248	123540248	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:123540248C>T	ENST00000422452.2	-	26	5137	c.5074G>A	c.(5074-5076)Gag>Aag	p.E1692K	TENM1_ENST00000371130.3_Missense_Mutation_p.E1685K|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTATCTAGCTCCACTTTTGTC	0.458000													34	63					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180819009	180819009	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:180819009G>A	ENST00000410053.3	-	16	1911	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	CWC22_ENST00000295749.6_Missense_Mutation_p.R538C	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	538	MI.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GTTTCCAAGCGATGGATGGTA	0.343000													5	24					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67365743	67365743	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:67365743T>A	ENST00000382713.5	+	5	703	c.513T>A	c.(511-513)aaT>aaA	p.N171K	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	171	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ATATCCACAATGCCAAGGTCA	0.453000													17	29					0	0	1	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170347	107170347	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:107170347G>A	ENST00000390633.2	-	0	81																											CCACAAAGAGGAACCTCCAGG	0.507000													9	86					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57224833	57224833	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:57224833G>A	ENST00000522671.1	-	3	1079	c.348C>T	c.(346-348)gtC>gtT	p.V116V	SDR16C5_ENST00000396721.2_Intron|SDR16C5_ENST00000303749.3_Silent_p.V116V			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	116				V -> I (in Ref. 1; BAB91014).	detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						AAACATCGCCGACTTCTTTTT	0.363000													9	37					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804281	27804281	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:27804281C>T	ENST00000408964.2	+	1	4893	c.4842C>T	c.(4840-4842)caC>caT	p.H1614H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1614	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGAAATCACTGCAGTCCCC	0.562000													22	99					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169129343	169129343	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:169129343A>G	ENST00000256935.8	+	14	1375	c.1295A>G	c.(1294-1296)cAa>cGa	p.Q432R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	432	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTCTTACAAGGTGACTTT	0.493000											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	63					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50489848	50489848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:50489848G>A	ENST00000267842.5	+	2	862	c.630G>A	c.(628-630)tgG>tgA	p.W210*	SLC27A2_ENST00000544960.1_5'UTR|SLC27A2_ENST00000380902.4_Nonsense_Mutation_p.W210*	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	210					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CAGAGTCATGGAGGTCTGAAG	0.398000													12	52					0	0	1	0	0
NQO1	1728	broad.mit.edu	37	16	69752310	69752310	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:69752310C>T	ENST00000320623.5	-	2	646	c.135G>A	c.(133-135)atG>atA	p.M45I	NQO1_ENST00000439109.2_Missense_Mutation_p.M45I|NQO1_ENST00000379046.2_Missense_Mutation_p.M45I|NQO1_ENST00000379047.3_Missense_Mutation_p.M45I|NQO1_ENST00000564043.1_Missense_Mutation_p.M24I|NQO1_ENST00000561500.1_Missense_Mutation_p.M45I	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	45					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GATTGAAGTTCATGGCATAGA	0.512000													18	84					0	0	1	0	0
NELFA	7469	broad.mit.edu	37	4	1993356	1993356	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:1993356G>A	ENST00000382882.3	-	2	1447	c.330C>T	c.(328-330)tcC>tcT	p.S110S	NELFA_ENST00000542778.1_Intron|NELFA_ENST00000411638.1_Silent_p.S99S	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		TGTCCGGAAAGGACTTCAAGA	0.532000													23	96					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117240938	117240938	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:117240938G>A	ENST00000362057.3	-	2	900	c.732C>T	c.(730-732)atC>atT	p.I244I	DFNB31_ENST00000374057.3_Silent_p.I244I|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	244					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGGTGGGGAGATGCTGCGGC	0.672000													6	17					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828952	76828952	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:76828952C>T	ENST00000248598.5	-	1	191	c.159G>A	c.(157-159)ggG>ggA	p.G53G	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	53			G -> E (in dbSNP:rs2075761).		signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						AGGGGCACTCCCCTGCCTCTT	0.498000													26	128					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14749053	14749053	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:14749053T>C	ENST00000253673.5	-	11	1448	c.1348A>G	c.(1348-1350)Aac>Gac	p.N450D	EMR3_ENST00000443157.2_Missense_Mutation_p.N324D|EMR3_ENST00000599900.1_Missense_Mutation_p.N235D|EMR3_ENST00000344373.4_Missense_Mutation_p.N398D	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	450					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ACTGTCAGGTTCCGTGCAGTG	0.557000													20	77					0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20978835	20978835	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:20978835G>A	ENST00000430083.1	+	2	693	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	RNASE10_ENST00000328444.5_Missense_Mutation_p.V69M			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	69						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		AGAAACGCTGGTGCTTAGCAA	0.537000													21	58					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344874	56344874	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:56344874C>T	ENST00000526812.2	-	1	389	c.324G>A	c.(322-324)gtG>gtA	p.V108V		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACTCAGTGATCACTAGGGCGA	0.443000													19	59					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583929	47583929	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:47583929C>T	ENST00000172229.3	+	3	602	c.477C>T	c.(475-477)aaC>aaT	p.N159N	NGFR_ENST00000504201.1_Silent_p.N65N|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	159					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					ACGAGGCCAACCACGTGGACC	0.701000													4	29					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160031622	160031622	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:160031622C>T	ENST00000263635.6	+	12	1899	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	TANC1_ENST00000454300.1_Silent_p.L448L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	554						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGCTGAGCCTCCGATCCTGTG	0.582000													24	83					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34818913	34818913	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:34818913G>A	ENST00000299505.6	+	6	1834	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	321										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAGCGAGGCGGAAGCCCAGCA	0.612000													30	149					0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9161635	9161635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:9161635G>A	ENST00000266551.4	+	4	437	c.422G>A	c.(421-423)tGg>tAg	p.W141*	KLRG1_ENST00000538029.1_3'UTR|KLRG1_ENST00000356986.3_Nonsense_Mutation_p.W141*	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	141	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						AATTCTGGCTGGAGGTGGGAA	0.448000													9	31					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19748830	19748830	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:19748830G>A	ENST00000203556.4	-	10	963	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	GMIP_ENST00000587238.1_Missense_Mutation_p.R276C|GMIP_ENST00000445806.2_Missense_Mutation_p.R276C	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	276					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTGGCCTCGCGGACACAGGCC	0.701000													8	14					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54590048	54590048	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:54590048G>A	ENST00000545554.1	+	11	4028	c.4028G>A	c.(4027-4029)cGa>cAa	p.R1343Q	UNC13C_ENST00000260323.11_Missense_Mutation_p.R1343Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R1341Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1343					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGGCCATACGATTGAAAATC	0.343000													5	10					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75100426	75100426	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:75100426G>A	ENST00000290573.2	+	5	1119	c.519G>A	c.(517-519)aaG>aaA	p.K173K	HK2_ENST00000409174.1_Silent_p.K145K	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	173	Regulatory.|Substrate 1 binding.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CATGGACCAAGGGATTCAAGT	0.537000													36	109					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325478	152325478	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:152325478C>T	ENST00000388718.5	-	3	4856	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1595							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTTCTCGTGAGTGTGG	0.512000													87	198					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669101	53669101	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:53669101G>A	ENST00000600412.1	-	2	562	c.447C>T	c.(445-447)gcC>gcT	p.A149A	ZNF665_ENST00000396424.3_Silent_p.A214A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAACAGTAAAGGCTTTGCCAC	0.398000													43	50					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166963247	166963247	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:166963247C>T	ENST00000061240.2	+	11	1977	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	TLL1_ENST00000507499.1_Missense_Mutation_p.R444C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	444	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R444C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATTGAGTTTCGTAGCAGCAG	0.368000													22	81					0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231373	6231373	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:6231373G>A	ENST00000316375.2	+	2	416	c.366G>A	c.(364-366)aaG>aaA	p.K122K		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	122										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCCTGCAAGATCCGCCTAC	0.582000													27	86					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907233	164907233	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:164907233G>A	ENST00000475390.1	-	2	1829	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	SLITRK3_ENST00000241274.3_Silent_p.F462F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	462						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGCCATTAAGGAAGAGGCTCT	0.448000										HNSCC(40;0.11)			11	44					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889190	18889190	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:18889190G>A	ENST00000266505.7	-	3	363	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	PLCZ1_ENST00000447925.2_Missense_Mutation_p.R32W|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R34W|PLCZ1_ENST00000435379.1_Missense_Mutation_p.R32W			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	34					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TAACTGCACCGAATATCTAAT	0.363000													12	30					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162117	29162117	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:29162117C>T	ENST00000321990.4	+	2	1396	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	340					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGGAAAATACCCCGAATTTT	0.368000													12	52					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118861	93118861	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:93118861C>T	ENST00000216487.7	+	6	1626	c.1467C>T	c.(1465-1467)gcC>gcT	p.A489A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	489	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGGCGATGGCCTTGGAGACAC	0.647000													20	101					0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70736566	70736566	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:70736566G>A	ENST00000370944.4	-	12	1781	c.1468C>T	c.(1468-1470)Ctt>Ttt	p.L490F	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.L455F	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	490					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CCTGGAGGAAGCTTCATCTGA	0.303000													5	26					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862632	154862632	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:154862632C>T	ENST00000287907.2	+	1	599	c.23C>T	c.(22-24)aCc>aTc	p.T8I	AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	8						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTGAACCTAACCTCCTTTTCC	0.612000													58	127					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96792135	96792135	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:96792135G>A	ENST00000359933.4	-	15	3181	c.2288C>T	c.(2287-2289)tCt>tTt	p.S763F		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	763										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCTTGATCAGATCGAAGATC	0.393000													13	50					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487686	63487686	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:63487686T>G	ENST00000377819.5	+	3	1866	c.1712T>G	c.(1711-1713)aTt>aGt	p.I571S	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.I459S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.I552S	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	571					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CAGCCTGATATTCTTGGAAGG	0.413000													21	78					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100548010	100548010	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:100548010G>A	ENST00000372907.3	-	1	35	c.24C>T	c.(22-24)ctC>ctT	p.L8L	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	8					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AAGAAATGGGGAGCTGTCCCT	0.493000													75	107					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728930	15728930	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:15728930C>T	ENST00000441682.2	+	0	382							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACCCTGACATCGTCCGATCTG	0.567000													26	125					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184298376	184298376	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:184298376C>T	ENST00000330394.2	+	12	2811	c.2359C>T	c.(2359-2361)Ccc>Tcc	p.P787S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	787	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGAGGATGACCCCTCCGATCC	0.637000													21	80					0	0	1	0	0
MRPL13	28998	broad.mit.edu	37	8	121457312	121457312	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:121457312G>A	ENST00000306185.3	-	1	314	c.23C>T	c.(22-24)cCc>cTc	p.P8L		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	8					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GCTCACCTGGGGCGCCCTAGA	0.572000													24	118					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2139170	2139170	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:2139170G>A	ENST00000334651.5	-	7	957	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	302							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GACGTGGAGGGACTTGGTCTC	0.532000													23	76					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:130762527G>A	ENST00000392429.1	+	2	3338	c.960G>A	c.(958-960)agG>agA	p.R320R	TMEM200A_ENST00000545622.1_Silent_p.R320R|TMEM200A_ENST00000296978.3_Silent_p.R320R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	320						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTAGGTCAAGGAATTTGTCAA	0.428000													8	30					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360294	149360294	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:149360294C>T	ENST00000286298.4	+	3	1406	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	380						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAACCTAATTCCTAGTGTGGC	0.378000													10	30					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225101	79225101	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:79225101G>A	ENST00000288439.5	-	14	2602	c.2257C>T	c.(2257-2259)Ctt>Ttt	p.L753F	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	0					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGATAAAAGGTTCCCAGAA	0.552000													17	58					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41545778	41545778	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:41545778G>A	ENST00000263253.7	+	14	3612	c.2393G>A	c.(2392-2394)aGt>aAt	p.S798N		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	798	Poly-Ser.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAATGTCTAGTTCTTCCTGC	0.408000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				13	39					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7050044	7050044	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:7050044C>T	ENST00000356654.4	+	8	3453	c.3214_splice	c.e8-1	p.A1072_splice	ATN1_ENST00000396684.2_Splice_Site_p.A1072_splice	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1072					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCCTCCAGCCTCTGCCTCGG	0.592000													16	78					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90167012	90167012	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:90167012A>T	ENST00000268138.7	+	20	3576	c.3471A>T	c.(3469-3471)ttA>ttT	p.L1157F	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.L1156F					TOPBP1-interacting checkpoint and replication regulator																		AGGAGTCCTTAAAAGACTCCT	0.473000													29	140					0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228399626	228399626	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:228399626C>T	ENST00000310078.7	+	8	1350	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	AGFG1_ENST00000373671.3_Missense_Mutation_p.P324S|AGFG1_ENST00000409315.1_Missense_Mutation_p.P343S|AGFG1_ENST00000409979.2_Missense_Mutation_p.P388S|AGFG1_ENST00000409171.1_Missense_Mutation_p.P364S	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	364					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GGTTTCAGTTCCCAGTCAGTC	0.473000													13	80					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75100425	75100425	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:75100425A>T	ENST00000290573.2	+	5	1118	c.518A>T	c.(517-519)aAg>aTg	p.K173M	HK2_ENST00000409174.1_Missense_Mutation_p.K145M	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	173	Regulatory.|Substrate 1 binding.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TCATGGACCAAGGGATTCAAG	0.532000													35	109					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76523744	76523744	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:76523744T>C	ENST00000307431.8	+	14	2426	c.2041T>C	c.(2041-2043)Tat>Cat	p.Y681H	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Y685H|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Y609H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Y633H|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	682	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAGTTTACTTATTACTGCAA	0.463000													4	13					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944728	112944728	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:112944728C>T	ENST00000331203.2	+	8	1236	c.965C>T	c.(964-966)cCc>cTc	p.P322L	FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409450.3_Missense_Mutation_p.P276L|FBLN7_ENST00000409667.3_Missense_Mutation_p.P188L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	322					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAGCGGAACCCCTGCCCCATG	0.617000													9	58					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33689848	33689848	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:33689848C>T	ENST00000394566.1	-	4	1251	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	SLFN11_ENST00000308377.4_Missense_Mutation_p.E327K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	327						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGGGAGCTTCTGAGAACACT	0.463000													22	69					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193188721	193188721	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:193188721C>T	ENST00000342695.4	-	9	1192	c.870G>A	c.(868-870)ggG>ggA	p.G290G	ATP13A4_ENST00000392443.3_Silent_p.G290G|ATP13A4_ENST00000295548.3_Silent_p.G290G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	290					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACTTTGTTCCCTGTCAAAA	0.478000													42	131					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791381	95791381	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:95791381T>C	ENST00000260766.3	+	2	1212	c.578T>C	c.(577-579)gTt>gCt	p.V193A	PLCE1_ENST00000371380.2_Missense_Mutation_p.V193A	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	193					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CATTATGAAGTTGACAGAAGA	0.423000													15	51					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50918806	50918806	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:50918806C>T	ENST00000440232.2	+	21	2729	c.2676C>T	c.(2674-2676)tcC>tcT	p.S892S	POLD1_ENST00000599857.1_Silent_p.S892S|POLD1_ENST00000595904.1_Silent_p.S918S	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	892					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCGGCCTCCGACTATGCCG	0.677000								DNA polymerases (catalytic subunits)					15	21					0	0	1	0	0
DUSP12	11266	broad.mit.edu	37	1	161721744	161721744	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:161721744C>T	ENST00000367943.4	+	3	579	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	DUSP12_ENST00000484291.1_Intron	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	183					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TAAGCAATATCGTTTACAAAA	0.363000													23	53					0	0	1	0	0
DEFB113	245927	broad.mit.edu	37	6	49936524	49936524	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:49936524G>A	ENST00000398718.1	-	2	114	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	39					defense response to bacterium	extracellular region		p.R39C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CAAGCACCACGAACAAGCTGA	0.403000													7	29					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487688	63487688	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:63487688C>T	ENST00000377819.5	+	3	1868	c.1714C>T	c.(1714-1716)Ctt>Ttt	p.L572F	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.L460F|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.L553F	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	572					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GCCTGATATTCTTGGAAGGAG	0.413000													21	77					0	0	1	0	0
MVB12B	89853	broad.mit.edu	37	9	129102878	129102878	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:129102878C>T	ENST00000361171.3	+	2	254	c.173C>T	c.(172-174)tCt>tTt	p.S58F	MVB12B_ENST00000545391.1_Missense_Mutation_p.S58F|MVB12B_ENST00000436593.3_Missense_Mutation_p.S43F	NM_033446.2	NP_258257.1			multivesicular body subunit 12B																		GTGGTGGCTTCTCGGAACCGA	0.498000													19	38					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21789532	21789532	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:21789532C>G	ENST00000206660.6	+	12	1582	c.1582C>G	c.(1582-1584)Ctg>Gtg	p.L528V	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.L501V|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.L501V|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.L170V|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.L528V|RPGRIP1_ENST00000553500.1_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	528					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATGCTTATTCTGCAGCGCAA	0.463000													17	41					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69890232	69890232	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:69890232C>T	ENST00000395889.2	-	17	1575	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	TEX11_ENST00000374320.2_Missense_Mutation_p.D149N|TEX11_ENST00000374333.2_Missense_Mutation_p.D459N|TEX11_ENST00000344304.3_Missense_Mutation_p.D474N	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	474							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGGACCTTATCAAGTTGTTGC	0.403000													13	15					0	0	1	0	0
TRAV19	28664	broad.mit.edu	37	14	22476351	22476351	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:22476351C>T	ENST00000390447.3	+	0	398																											TCCACCAGTTCCTTCAACTTC	0.473000													4	17					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113286191	113286191	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:113286191G>A	ENST00000362072.3	-	5	1019	c.675C>T	c.(673-675)acC>acT	p.T225T	DRD2_ENST00000538967.1_Silent_p.T225T|DRD2_ENST00000355319.2_Silent_p.T225T|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.T225T|DRD2_ENST00000544518.1_Silent_p.T224T|DRD2_ENST00000346454.3_Silent_p.T225T	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	225	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGCTGCGTTTGGTGTTGACTC	0.562000													26	125					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432170	179432170	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179432170C>A	ENST00000589042.1	-	326	78913	c.78689G>T	c.(78688-78690)gGa>gTa	p.G26230V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24589V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G17165V|TTN_ENST00000342175.6_Missense_Mutation_p.G17357V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G17290V|TTN_ENST00000342992.6_Missense_Mutation_p.G23662V|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24589	Fibronectin type-III 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTATCTCCTCTTAACCA	0.388000													19	61					8.28177e-16	8.42864e-16	1	1	0
TMEM108	66000	broad.mit.edu	37	3	133098794	133098794	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:133098794C>T	ENST00000515826.1	+	3	362	c.239C>T	c.(238-240)cCc>cTc	p.P80L	TMEM108_ENST00000321871.6_Missense_Mutation_p.P80L|TMEM108_ENST00000393130.3_Missense_Mutation_p.P80L|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	80	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTGCAGCTCCCATGGCAACA	0.622000													30	85					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16264444	16264444	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:16264444C>T	ENST00000375759.3	+	13	10851	c.10647C>T	c.(10645-10647)atC>atT	p.I3549I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3549	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACTAAGGATCGCCCAGAGGA	0.617000													17	80					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092307	30092307	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:30092307C>T	ENST00000567636.1	+	0	682					NR_003558.1																						CACCCTCCATCCTTAAGAAAC	0.493000													6	16					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651317	142651317	+	Missense_Mutation	SNP	C	C	T	rs142497392		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:142651317C>T	ENST00000355265.2	-	8	1352	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	293					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCTGTGCCCGCCGCTGCTC	0.572000													19	30					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795189	142795189	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:142795189C>T	ENST00000370498.1	-	2	1242	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	163										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTTCGTCCTCCTGTGAAG	0.502000													88	131					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54722532	54722532	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:54722532C>G	ENST00000391750.1	-	11	1658	c.1522G>C	c.(1522-1524)Gtc>Ctc	p.V508L	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.V508L|LILRA6_ENST00000270464.5_Missense_Mutation_p.V508L|LILRA6_ENST00000440558.2_Missense_Mutation_p.V508L|LILRB3_ENST00000245620.9_Missense_Mutation_p.V508L|LILRB3_ENST00000424807.1_Missense_Mutation_p.V508L|LILRB3_ENST00000346401.6_Missense_Mutation_p.V520L|LILRB3_ENST00000407860.2_Missense_Mutation_p.V525L|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	508					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTTCCTGGACGTCAGCAGCT	0.572000													13	91					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62599268	62599268	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:62599268G>A	ENST00000450537.1	-	2	96	c.36C>T	c.(34-36)ctC>ctT	p.L12L	ZNF512B_ENST00000369888.1_Silent_p.L12L|ZNF512B_ENST00000217130.3_Silent_p.L12L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L12L(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGACCCCGGGAGCCGACGGC	0.597000													17	74					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358927	178358927	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:178358927G>A	ENST00000361362.2	+	5	1143	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ZFP2_ENST00000523286.1_Missense_Mutation_p.E205K|ZFP2_ENST00000503510.2_Missense_Mutation_p.E205K|ZFP2_ENST00000520301.1_Missense_Mutation_p.E205K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TATTCAGCATGAAAGGATTCA	0.398000													11	40					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108163629	108163629	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:108163629C>T	ENST00000273353.3	-	23	2629	c.2573G>A	c.(2572-2574)gGa>gAa	p.G858E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	858						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACTTCTTCTCCTACTTCTGA	0.438000													27	91					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61882449	61882449	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:61882449G>A	ENST00000578681.1	+	8	1241	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	DDX42_ENST00000583590.1_Missense_Mutation_p.E214K|DDX42_ENST00000457800.2_Missense_Mutation_p.E214K|DDX42_ENST00000389924.2_Missense_Mutation_p.E214K|DDX42_ENST00000359353.5_Missense_Mutation_p.E95K	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	214					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCACCATTTGAAAAAAACTT	0.343000													8	47					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110838731	110838731	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:110838731C>T	ENST00000375820.4	-	26	2019		c.e26+1			NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCAGGCCTCACCTGGCAGGCC	0.622000													48	146					0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27455150	27455150	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:27455150T>G	ENST00000262244.5	-	2	823	c.399A>C	c.(397-399)gaA>gaC	p.E133D		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	133							metal ion binding|protein binding										TTGGAAATATTTCCTCGTTGT	0.433000													17	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426465	179426465	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179426465C>T	ENST00000589042.1	-	326	84618	c.84394G>A	c.(84394-84396)Gaa>Aaa	p.E28132K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26491K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19067K|TTN_ENST00000342175.6_Missense_Mutation_p.E19259K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19192K|TTN_ENST00000342992.6_Missense_Mutation_p.E25564K|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26491	Fibronectin type-III 105.		I -> L.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCGGTTTTCTGCACAAACA	0.453000													4	30					0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98111142	98111142	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:98111142T>A	ENST00000419479.1	-	4	542	c.35A>T	c.(34-36)aAa>aTa	p.K12I	OPALIN_ENST00000371172.3_Missense_Mutation_p.K22I|OPALIN_ENST00000393870.2_Intron|OPALIN_ENST00000393871.1_Intron|OPALIN_ENST00000536387.1_Missense_Mutation_p.K12I	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	22						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TACCGTTTCTTTCCCACCTGT	0.323000													16	36					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89869692	89869692	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:89869692G>A	ENST00000389301.3	-	8	797	c.767C>T	c.(766-768)aCt>aTt	p.T256I	FANCA_ENST00000568369.1_Missense_Mutation_p.T256I|FANCA_ENST00000543736.1_Missense_Mutation_p.T224I|FANCA_ENST00000534992.1_Missense_Mutation_p.T256I|FANCA_ENST00000563673.1_Missense_Mutation_p.T256I|FANCA_ENST00000389302.3_Missense_Mutation_p.T256I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	256					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGCTCCACAGTTCTTCTCAG	0.388000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	102					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52675975	52675975	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:52675975A>T	ENST00000356770.4	-	9	988	c.986T>A	c.(985-987)tTa>tAa	p.L329*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.L361*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.L361*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.L361*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.L361*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.L361*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.L361*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.L361*			Q86U86	PB1_HUMAN	polybromo 1	361					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTACCAGCTAAAGCAGCATC	0.388000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								47	217					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113830325	113830325	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:113830325C>T	ENST00000393197.2	+	1	431	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	IL1F10_ENST00000341010.2_Missense_Mutation_p.L4F|IL1F10_ENST00000337569.3_Missense_Mutation_p.L4F	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	4						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						AATGTGTTCCCTCCCCATGGC	0.552000													3	16					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154024015	154024015	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:154024015G>A	ENST00000496811.1	-	6	963	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	DHX36_ENST00000544526.1_Missense_Mutation_p.R295C|DHX36_ENST00000329463.5_Missense_Mutation_p.R295C|DHX36_ENST00000308361.6_Missense_Mutation_p.R295C	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	295	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTCTGGAGACGAATTTGATAT	0.348000													26	51					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124096406	124096406	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:124096406C>T	ENST00000287380.1	+	4	435	c.345C>T	c.(343-345)acC>acT	p.T115T	TBC1D31_ENST00000378080.2_Silent_p.T10T|TBC1D31_ENST00000309336.3_Silent_p.T115T|TBC1D31_ENST00000521676.1_Silent_p.T10T|TBC1D31_ENST00000327098.5_Silent_p.T115T|TBC1D31_ENST00000522420.1_Silent_p.T10T	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CCACAGTCACCAAGGAGCTAG	0.393000													32	107					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377696	125377696	+	Missense_Mutation	SNP	G	G	A	rs138056123		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:125377696G>A	ENST00000297913.2	+	1	749	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GTGGTCCTCCGGATCCCCTCA	0.537000													28	65					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23695342	23695342	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:23695342C>T	ENST00000300093.4	+	5	1079	c.968C>T	c.(967-969)cCa>cTa	p.P323L		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	323					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		ACCATTCCACCAAGGTTTTCG	0.552000													44	147					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66620010	66620010	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:66620010C>T	ENST00000393960.1	-	15	2006	c.1725G>A	c.(1723-1725)caG>caA	p.Q575Q	PC_ENST00000393958.2_Silent_p.Q575Q|PC_ENST00000393955.2_Silent_p.Q575Q	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	575	Carboxyltransferase.|Substrate binding.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCAGCAGTGACTGGTGGGCGT	0.612000													21	64					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54802557	54802557	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:54802557C>T	ENST00000293379.4	-	6	935	c.674G>A	c.(673-675)gGa>gAa	p.G225E	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	225					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAAATAGCTTCCTGGTCCACC	0.507000													7	30					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837254	40837254	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:40837254C>T	ENST00000264638.4	+	5	748	c.531C>T	c.(529-531)ttC>ttT	p.F177F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	177					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TACTCTATTTCGACGGCGACG	0.632000													16	64					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178170	223178170	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:223178170C>T	ENST00000284476.6	+	8	3595	c.3431C>T	c.(3430-3432)cCt>cTt	p.P1144L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1144					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGTCAGATTCCTTTACCTAAA	0.458000													42	75					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202334695	202334695	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:202334695C>T	ENST00000194530.3	+	4	478	c.113C>T	c.(112-114)tCc>tTc	p.S38F	STRADB_ENST00000392249.2_Missense_Mutation_p.S38F	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	38					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	p.S38F(1)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CCAACCCTTTCCTGGTCACGT	0.388000													8	26					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105897099	105897099	+	Silent	SNP	G	G	A	rs76483951	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:105897099G>A	ENST00000393359.2	-	6	1629	c.1203C>T	c.(1201-1203)caC>caT	p.H401H	TGFBRAP1_ENST00000258449.1_Silent_p.H401H			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	401					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GAAGAGGAGGGTGGGACCGGG	0.572000													8	41					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31998230	31998230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:31998230G>A	ENST00000432498.1	+	15	1877	c.1484G>A	c.(1483-1485)tGg>tAg	p.W495*	SFI1_ENST00000443326.1_Nonsense_Mutation_p.W444*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.W444*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.W471*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.W373*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.W373*|SFI1_ENST00000400288.2_Nonsense_Mutation_p.W526*	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	526					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTTTCTCTCTGGAGGCAGAAG	0.418000													19	71					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706467	21706467	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:21706467G>A	ENST00000281523.2	-	2	594	c.76C>T	c.(76-78)Cct>Tct	p.P26S	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	26						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGTTGCAAAGGAGGGGCTGGT	0.537000													15	38					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100373013	100373013	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:100373013C>T	ENST00000542585.1	+	0	5988				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTAACCATTCTATCCCGGAC	0.572000													18	29					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844153	5844153	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:5844153G>A	ENST00000303225.6	-	3	1332	c.698C>T	c.(697-699)aCc>aTc	p.T233I	FUT3_ENST00000458379.2_Missense_Mutation_p.T233I|FUT3_ENST00000589918.1_Missense_Mutation_p.T233I|FUT3_ENST00000589620.1_Missense_Mutation_p.T233I	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	233					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTCCATCATGGTCCCCTTGGG	0.612000													20	77					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114401507	114401507	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:114401507C>T	ENST00000536312.1	-	6	1115	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	NXPE1_ENST00000251921.2_5'UTR|NXPE1_ENST00000424269.1_Missense_Mutation_p.E75K					neurexophilin and PC-esterase domain family, member 1																		TCTATGATTTCCTTTATTCTG	0.463000													26	118					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336598	42336598	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:42336598C>T	ENST00000262418.6	-	9	964	c.809G>A	c.(808-810)gGa>gAa	p.G270E	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	270					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGCCTCAGGTCCCAGCAACAC	0.662000													8	45					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105168803	105168803	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:105168803G>A	ENST00000428173.2	+	19	3398	c.3095G>A	c.(3094-3096)aGt>aAt	p.S1032N	NRK_ENST00000243300.9_Missense_Mutation_p.S1031N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1031							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CATGGAGGAAGTGCAGCCAGT	0.498000										HNSCC(51;0.14)			13	11					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10418208	10418208	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:10418208C>T	ENST00000226207.5	-	6	604	c.510G>A	c.(508-510)cgG>cgA	p.R170R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	170	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACTGATTCTCCCGATCTAGAA	0.323000													22	48					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230306	21230306	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:21230306G>A	ENST00000233242.1	-	26	9561	c.9434C>T	c.(9433-9435)cCt>cTt	p.P3145L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3145					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTCAGTGGAGGAGTTGTGAT	0.358000													15	58					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650056	75650056	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:75650056G>A	ENST00000361470.2	+	1	2011	c.1733G>A	c.(1732-1734)gGg>gAg	p.G578E		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	578	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGCCCAAATGGGCCAAAGATG	0.488000													12	8					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110818504	110818504	+	Missense_Mutation	SNP	G	G	A	rs143584280	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:110818504G>A	ENST00000282356.4	+	10	1248	c.850G>A	c.(850-852)Gat>Aat	p.D284N	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.D284N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	284	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AATTGTTTTGGATCCAAAGAA	0.418000													16	70					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36616188	36616188	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:36616188G>A	ENST00000431169.1	-	13	1313	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	AOAH_ENST00000538464.1_Missense_Mutation_p.S60L|AOAH_ENST00000535891.1_Missense_Mutation_p.S306L|AOAH_ENST00000258749.5_Missense_Mutation_p.S338L	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	338					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACCATTTCTTGAAATATTCTG	0.299000													16	105					0	0	1	0	0
COPS7B	64708	broad.mit.edu	37	2	232656505	232656505	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:232656505C>T	ENST00000373608.3	+	3	332	c.225C>T	c.(223-225)taC>taT	p.Y75Y	COPS7B_ENST00000410017.1_Silent_p.Y75Y|COPS7B_ENST00000410024.1_Silent_p.Y75Y|COPS7B_ENST00000409295.1_Silent_p.Y41Y|COPS7B_ENST00000409091.1_Intron|COPS7B_ENST00000350033.3_Silent_p.Y75Y			Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	75	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		ATGGGACATACCCAGATTACA	0.408000													10	47					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153728	45153728	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:45153728C>T	ENST00000296129.1	-	3	636	c.502G>A	c.(502-504)Gat>Aat	p.D168N	CDCP1_ENST00000425231.2_Missense_Mutation_p.D168N	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	168						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)		ACGGTGGCATCGATTCGGCCG	0.567000													25	125					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100246	184100246	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:184100246G>A	ENST00000204604.1	+	7	1015	c.769G>A	c.(769-771)Gca>Aca	p.A257T	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.A257T|CHRD_ENST00000450923.1_Missense_Mutation_p.A257T|CHRD_ENST00000545352.1_5'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	257	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGCATGTGGCACTTGTGAC	0.642000													79	219					0	0	1	0	0
GYPE	2996	broad.mit.edu	37	4	144801563	144801563	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:144801563C>T	ENST00000358615.4	-	2	188		c.e2+1		GYPE_ENST00000437468.2_Splice_Site	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					TGAAAACAAACCATTTGTCTG	0.398000													16	75					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47697641	47697641	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:47697641C>T	ENST00000455779.1	+	25	2496	c.2311C>T	c.(2311-2313)Ctt>Ttt	p.L771F	PHKB_ENST00000299167.8_Missense_Mutation_p.L778F|PHKB_ENST00000323584.5_Missense_Mutation_p.L778F|PHKB_ENST00000566044.1_Missense_Mutation_p.L771F			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	778	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CAGCCAAAAACTTTGGTTTGT	0.318000													5	20					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216065	20216065	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:20216065A>C	ENST00000331723.1	+	1	479	c.479A>C	c.(478-480)cAg>cCg	p.Q160P		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTATCATGCAGGTCATACTA	0.507000													5	25					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090583	184090583	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:184090583G>A	ENST00000421442.2	-	6	663	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	THPO_ENST00000445696.2_Silent_p.L256L|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000204615.7_Silent_p.L260L			P40225	TPO_HUMAN	thrombopoietin	0					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCCAGGAAAGAGTCCACGAG	0.557000													42	135					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868662	97868662	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:97868662T>A	ENST00000437310.1	+	1	493	c.433T>A	c.(433-435)Tta>Ata	p.L145I		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATCCGGCTATTAATCTTGTC	0.373000													9	144					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1572332	1572332	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:1572332G>A	ENST00000407249.3	-	17	1735	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	CDK11B_ENST00000341832.6_Missense_Mutation_p.S532F|CDK11B_ENST00000317673.7_Missense_Mutation_p.S577F|CDK11B_ENST00000340677.5_Missense_Mutation_p.S566F			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	589	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CTTCAGAGGGGATCCGTACTC	0.682000													14	48					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561106	41561106	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:41561106C>T	ENST00000400454.1	-	12	2893	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	806	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E806K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCTCATCTCCTTTTTCTGC	0.507000													25	75					0	0	1	0	0
STX6	10228	broad.mit.edu	37	1	180974552	180974552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:180974552C>T	ENST00000258301.5	-	2	320	c.83G>A	c.(82-84)tGg>tAg	p.W28*	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	28					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GAGCTCTGTCCATCTCTGAAA	0.493000													29	82					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347456	140347456	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140347456G>A	ENST00000289269.5	+	1	1637	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		369					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTCACGGACCTGTATAG	0.587000													13	55					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280037	22280037	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:22280037G>A	ENST00000390431.3	+	0	226																											CAATGACAAGGGAAGGAACAA	0.463000													6	27					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764424	82764424	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:82764424G>A	ENST00000423517.2	-	3	2779	c.2442C>T	c.(2440-2442)agC>agT	p.S814S	PCLO_ENST00000333891.8_Silent_p.S814S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	760	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATCAAATGGGCTGACTTTTT	0.438000													58	114					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128616	55128616	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:55128616G>A	ENST00000370862.3	+	4	1094	c.758G>A	c.(757-759)cGa>cAa	p.R253Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	253					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R253Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCTGGTGTCGACAGGTATAT	0.368000													5	21					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825126	4825126	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:4825126A>G	ENST00000380382.1	-	1	721	c.722T>C	c.(721-723)tTc>tCc	p.F241S	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.F162S|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGAAGCAGAAGGGGCTCAC	0.552000													20	74					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35259868	35259868	+	Silent	SNP	G	G	A	rs143380983		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:35259868G>A	ENST00000342280.4	+	2	142	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	18					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGGAGCACTCGACCGTGGTGG	0.612000													12	39					0	0	1	0	0
SPCS1	28972	broad.mit.edu	37	3	52741807	52741807	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:52741807G>A	ENST00000233025.7	+	4	899	c.489G>A	c.(487-489)aaG>aaA	p.K163K	SPCS1_ENST00000602728.1_Silent_p.K96K|SPCS1_ENST00000423431.1_Silent_p.K74K	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	163					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GAAAAATTAAGAGGCATGCTA	0.423000													29	115					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212987	26212987	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:26212987G>A	ENST00000379034.1	+	2	1173	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	342	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGATAAGTACGTGGTTTACCG	0.498000													40	55					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354506	42354506	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:42354506G>A	ENST00000596827.1	+	7	968	c.882G>A	c.(880-882)agG>agA	p.R294R	DMRTC2_ENST00000269945.3_Intron			Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GAAAAAGCAGGAAACTGAAGG	0.597000													47	55					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40065285	40065285	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:40065285G>C	ENST00000352035.2	-	6	703	c.573C>G	c.(571-573)ttC>ttG	p.F191L	ACLY_ENST00000590151.1_Missense_Mutation_p.F191L|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.F191L|ACLY_ENST00000353196.1_Missense_Mutation_p.F191L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	191					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AGTCCTCGTAGAAATTGAAGA	0.567000													4	32					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018643	88018643	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:88018643G>A	ENST00000506554.1	-	11	1486	c.1127C>T	c.(1126-1128)aCc>aTc	p.T376I	MEF2C_ENST00000437473.2_Silent_p.D400D|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000510942.1_Silent_p.D392D|MEF2C_ENST00000508569.1_Silent_p.D360D|MEF2C_ENST00000539796.1_Silent_p.D344D|MEF2C_ENST00000504921.2_Silent_p.D400D|MEF2C_ENST00000424173.2_Silent_p.D390D|MEF2C_ENST00000340208.5_Silent_p.D410D|MEF2C_ENST00000514015.1_Silent_p.D368D|MEF2C_ENST00000514028.1_Silent_p.D400D			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	240	Transcription repressor.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGGTGGTACGGTCTCTAGGAG	0.527000										HNSCC(66;0.2)			8	31					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217904	150217904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:150217904G>A	ENST00000313543.4	+	2	999	c.842G>A	c.(841-843)tGg>tAg	p.W281*		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	281							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATAGGATTTGGAAGATGCTT	0.234000													15	36					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25831751	25831751	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:25831751C>T	ENST00000399878.3	-	6	1248	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	SEL1L3_ENST00000502949.1_Missense_Mutation_p.D223N|SEL1L3_ENST00000264868.5_Missense_Mutation_p.D341N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	376						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTTCAAATCCTGTCCAATG	0.388000													9	19					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15656964	15656964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:15656964C>T	ENST00000281171.4	+	6	1558	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	PTPRO_ENST00000543886.1_Nonsense_Mutation_p.R410*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.R410*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	410						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTGTGAAACTCGAAAAAGTCA	0.393000													6	29					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048034	58048034	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:58048034C>T	ENST00000556826.1	-	4	941	c.705G>A	c.(703-705)aaG>aaA	p.K235K	SLC35F4_ENST00000554729.1_Silent_p.K112K|RP11-409I10.2_ENST00000555600.1_RNA|SLC35F4_ENST00000339762.6_Silent_p.K271K	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCGTCAGCTTCTTTAAAGCCA	0.423000													4	22					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70732604	70732604	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:70732604G>A	ENST00000261776.5	-	15	2032	c.1772C>T	c.(1771-1773)aCc>aTc	p.T591I	VAC14_ENST00000536184.2_Missense_Mutation_p.T23I	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	591					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CAGCAGGATGGTGTTGAGGGC	0.592000													18	82					0	0	1	0	0
TM4SF18	116441	broad.mit.edu	37	3	149039266	149039266	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:149039266C>T	ENST00000296059.2	-	6	870	c.605G>A	c.(604-606)tGa>tAa	p.*202*	TM4SF18_ENST00000470080.1_Silent_p.*202*|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	0						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGTCCTTATTCAAATGATTCC	0.313000													14	31					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30486837	30486837	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:30486837C>T	ENST00000356798.6	+	4	443	c.263C>T	c.(262-264)tCc>tTc	p.S88F	ITGAL_ENST00000454514.2_Missense_Mutation_p.S88F|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.S88F	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	88					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTACAGGTTCCAACTATACC	0.527000													20	70					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159790331	159790331	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:159790331C>T	ENST00000264433.6	+	13	2618	c.2543C>T	c.(2542-2544)cCt>cTt	p.P848L	FNIP2_ENST00000379346.3_Missense_Mutation_p.P871L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	848	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCGGAAGGACCTGTGCTGGAG	0.632000													25	73					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268829	28268829	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:28268829C>T	ENST00000405948.2	+	7	1618	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	PGBD1_ENST00000259883.3_Missense_Mutation_p.P400S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	400					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACCCAATTTTCCAAGCTGGTC	0.373000													24	77					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72128987	72128987	+	Silent	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:72128987A>G	ENST00000340726.3	-	14	1939	c.1300T>C	c.(1300-1302)Ttg>Ctg	p.L434L	EYA1_ENST00000303824.7_Silent_p.L428L|EYA1_ENST00000388742.4_Silent_p.L434L|EYA1_ENST00000388740.3_Silent_p.L401L|EYA1_ENST00000388743.2_Silent_p.L433L|EYA1_ENST00000388741.2_Silent_p.L400L|EYA1_ENST00000419131.1_Silent_p.L399L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	434					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CGGAAGGCCAACTTTCTCATC	0.463000													20	74					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47821563	47821563	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:47821563G>A	ENST00000359568.5	+	26	4997	c.4890G>A	c.(4888-4890)tcG>tcA	p.S1630S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1630					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCCTCCTTCGGGCAGCCCTC	0.562000													20	91					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229240	8229240	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:8229240C>T	ENST00000539824.1	+	12	1965	c.1591C>T	c.(1591-1593)Ctg>Ttg	p.L531L	SH3TC1_ENST00000245105.3_Silent_p.L607L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	607							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GTACGCCAACCTGGCCAGCAT	0.632000													25	154					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155014007	155014007	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:155014007G>A	ENST00000295542.1	+	7	762	c.666G>A	c.(664-666)agG>agA	p.R222R	DCST1_ENST00000423025.2_Silent_p.R197R|DCST1_ENST00000368419.2_Silent_p.R222R|DCST1_ENST00000392480.1_Silent_p.R222R	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	222						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCAGGGCAGGGAGGCCCGCC	0.602000													41	62					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8196549	8196549	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:8196549C>T	ENST00000600128.1	-	15	2293	c.1879G>A	c.(1879-1881)Ggc>Agc	p.G627S	FBN3_ENST00000270509.2_Missense_Mutation_p.G627S|FBN3_ENST00000601739.1_Missense_Mutation_p.G627S			Q75N90	FBN3_HUMAN	fibrillin 3	627	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACAGGAGCCCTTCTCGATG	0.677000													14	62					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66240222	66240222	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:66240222G>A	ENST00000380828.2	+	5	462	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RABGEF1_ENST00000450873.2_Missense_Mutation_p.R63Q|RABGEF1_ENST00000437078.2_Missense_Mutation_p.R77Q|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000284957.5_Missense_Mutation_p.R63Q|KCTD7_ENST00000510829.2_Missense_Mutation_p.R63Q|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R76Q|KCTD7_ENST00000451741.2_Missense_Mutation_p.R63Q			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGACTCCAGCGGGAGGAAGAA	0.463000													8	32					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47534359	47534359	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:47534359C>T	ENST00000334194.3	+	2	246	c.243C>T	c.(241-243)ccC>ccT	p.P81P		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	81						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GTGCTGTTCCCTTGTGGGTTG	0.433000													29	115					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267713	66267713	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:66267713G>A	ENST00000327268.4	-	6	752	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.F196F	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	196						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GCAGTGCTCCGAAGATGACAA	0.478000													11	42					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021752	132021752	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:132021752C>T	ENST00000356920.5	+	15	2818	c.2724C>T	c.(2722-2724)atC>atT	p.I908I	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	908	Actin-like.						ATP binding										AGCGGGAAATCGTGCGTGACA	0.602000													21	200					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020480	5020480	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:5020480G>A	ENST00000321543.1	+	1	268	c.268G>A	c.(268-270)Gat>Aat	p.D90N		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTATGGTTGGATGCTCCAGA	0.488000													21	99					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11830040	11830040	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:11830040A>G	ENST00000356957.3	-	2	411	c.304T>C	c.(304-306)Tcc>Ccc	p.S102P	TXNDC11_ENST00000283033.5_Missense_Mutation_p.S102P			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	102	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GACCTCAAGGAGAAAAAGCTG	0.448000													7	23					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572659	140572659	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140572659C>T	ENST00000239446.4	+	1	718	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		178	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCTTTTTTCCATATTAACA	0.468000													48	172					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31404389	31404389	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:31404389G>A	ENST00000355683.5	-	7	1183	c.968C>T	c.(967-969)tCg>tTg	p.S323L	STRN3_ENST00000357479.5_Missense_Mutation_p.S323L	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	323					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GCCATCCCCCGAACTCCGTGC	0.433000													27	78					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52539765	52539765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:52539765G>A	ENST00000261839.7	-	15	1932	c.1771C>T	c.(1771-1773)Caa>Taa	p.Q591*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	591	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGATTTTCTTGAAAAAAGTTG	0.428000													17	64					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113858523	113858523	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:113858523T>G	ENST00000383673.2	-	5	977	c.547A>C	c.(547-549)Atc>Ctc	p.I183L	DRD3_ENST00000460779.1_Missense_Mutation_p.I183L|DRD3_ENST00000295881.7_Missense_Mutation_p.I183L|DRD3_ENST00000467632.1_Missense_Mutation_p.I183L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	183					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGGTTGGAGATGGAGCAGACA	0.488000													20	73					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148947312	148947312	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:148947312G>A	ENST00000335870.2	+	2	215	c.87G>A	c.(85-87)gaG>gaA	p.E29E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AAGCAACAGAGAAAAGCTCCT	0.502000													5	40					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698152	34698152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:34698152C>T	ENST00000360581.1	+	1	256	c.128C>T	c.(127-129)tCc>tTc	p.S43F	NPSR1_ENST00000381553.3_Missense_Mutation_p.S43F|NPSR1_ENST00000531252.1_Missense_Mutation_p.S43F|NPSR1_ENST00000381542.1_Missense_Mutation_p.S43F|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000359791.1_Missense_Mutation_p.S43F|NPSR1_ENST00000381539.3_Missense_Mutation_p.S43F|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000465305.1_Missense_Mutation_p.S43F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	43						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAATGGGGTTCCTTCTACTAC	0.458000													16	91					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40889814	40889814	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:40889814A>G	ENST00000291823.2	-	2	982	c.698T>C	c.(697-699)cTg>cCg	p.L233P		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	233	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGCTTGGGCAGGCCCTGGGT	0.652000													20	69					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080427	70080427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:70080427C>T	ENST00000446444.1	-	1	22	c.14G>A	c.(13-15)tGg>tAg	p.W5*	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	5					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AACTGAAGTCCATTTCAGAGT	0.393000													37	149					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70404865	70404865	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:70404865C>T	ENST00000373644.4	+	4	2588	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	793					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTTATAAATTCCTAAAAGACA	0.333000													13	31					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1712502	1712502	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:1712502C>T	ENST00000397412.3	+	12	2524	c.2425C>T	c.(2425-2427)Cct>Tct	p.P809S	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P809S|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P806S|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.P187S|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	809						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TTTGAGAAACCCTCCAAGACC	0.547000													33	122					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170629	53170629	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:53170629C>T	ENST00000332411.2	-	1	500	c.447G>A	c.(445-447)ggG>ggA	p.G149G		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	149	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGAAAGCCCCCAGGGCCAA	0.587000													3	19					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248684970	248684970	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:248684970C>T	ENST00000343414.4	+	1	55	c.23C>T	c.(22-24)tCt>tTt	p.S8F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8Y(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACAACAGCTCTGAAAAGGGA	0.418000													24	118					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:22382594G>A	ENST00000328795.4	+	1	213	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000													34	164					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769744	112769744	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:112769744C>T	ENST00000390666.3	-	1	984	c.793G>A	c.(793-795)Gag>Aag	p.E265K	CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	265	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGAGGATCTCGTCGATGTGG	0.622000													7	40					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112186239	112186239	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:112186239C>T	ENST00000455480.2	+	18	2874	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	ACAD10_ENST00000313698.4_Silent_p.I868I|ACAD10_ENST00000392636.2_Silent_p.I470I|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	868							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGATAAAAATCATCCGGCCTC	0.567000													20	92					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085991	9085991	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9085991G>A	ENST00000397910.4	-	1	6027	c.5824C>T	c.(5824-5826)Cca>Tca	p.P1942S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1942	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTCCACTGGAATGGATGAA	0.498000													7	40					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197086955	197086955	+	Silent	SNP	C	C	T	rs138508558	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:197086955C>T	ENST00000367409.4	-	17	4285	c.4029G>A	c.(4027-4029)ctG>ctA	p.L1343L	ASPM_ENST00000294732.7_Silent_p.L1343L|ASPM_ENST00000367408.1_Silent_p.L593L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1343					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAACTTTTTCCAGCTTTTCCT	0.294000													33	118					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951677	130951677	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:130951677C>T	ENST00000312988.7	-	4	838	c.738G>A	c.(736-738)ggG>ggA	p.G246G		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	246					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CATTCAGGGCCCCATCAAATC	0.597000													10	142					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140407065	140407065	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:140407065C>G	ENST00000286349.3	+	3	1732	c.1541C>G	c.(1540-1542)aCa>aGa	p.T514R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	514						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACTCAGAAACAATGATTGCC	0.572000													25	74					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091704	74091704	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:74091704G>A	ENST00000443185.2	-	4	2683	c.2366C>T	c.(2365-2367)tCc>tTc	p.S789F	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGAGCCACGGAGTTGCAGCT	0.592000													7	25					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66777374	66777374	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:66777374G>A	ENST00000307102.5	+	7	1271	c.740G>A	c.(739-741)tGg>tAg	p.W247*	MAP2K1_ENST00000566326.1_Nonsense_Mutation_p.W71*	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	247	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TCAGACATCTGGAGCATGGGA	0.547000													49	147					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378106	18378106	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:18378106G>A	ENST00000392413.3	-	3	459	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	KIAA1683_ENST00000600328.2_Missense_Mutation_p.L82F|KIAA1683_ENST00000600359.2_Missense_Mutation_p.L36F	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	82						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAGCCCGGAGGCGTGGGACG	0.642000													25	91					0	0	1	0	0
UEVLD	55293	broad.mit.edu	37	11	18579815	18579815	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:18579815G>A	ENST00000396197.3	-	7	703	c.675C>T	c.(673-675)gaC>gaT	p.D225D	UEVLD_ENST00000543987.1_Silent_p.D225D|UEVLD_ENST00000535484.1_Silent_p.D187D|UEVLD_ENST00000541984.1_Silent_p.D125D|UEVLD_ENST00000379387.4_Silent_p.D203D|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000320750.6_Silent_p.D203D	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	225					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGATTTCAAGGTCCATCGTGG	0.413000													13	56					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408203	30408203	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:30408203G>A	ENST00000375994.2	+	2	600	c.327G>A	c.(325-327)aaG>aaA	p.K109K	MYLK2_ENST00000375985.4_Silent_p.K109K			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	109					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGCGTCAAGAAGCCCAAGG	0.697000													9	38					0	0	1	0	0
ACOT4	122970	broad.mit.edu	37	14	74061780	74061780	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:74061780G>A	ENST00000326303.4	+	3	942	c.688G>A	c.(688-690)Ggc>Agc	p.G230S		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	230					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TGGGCTTTTGGGCATTTCTCT	0.463000													24	102					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64678484	64678484	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:64678484C>T	ENST00000543942.2	-	8	1896	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Missense_Mutation_p.E264K|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	427								p.E264Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACTCGGTTTCTGTTTCTCTG	0.373000													5	10					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122756649	122756649	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:122756649G>A	ENST00000245838.8	-	30	3776	c.3745C>T	c.(3745-3747)Cct>Tct	p.P1249S	THOC2_ENST00000491737.1_Missense_Mutation_p.P1134S|THOC2_ENST00000355725.4_Missense_Mutation_p.P1249S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1249					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCCCTTTAGGTGTGGTACTA	0.338000													14	14					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14263205	14263205	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:14263205G>A	ENST00000340736.6	-	22	3877	c.3580C>T	c.(3580-3582)Cgt>Tgt	p.R1194C	LPHN1_ENST00000361434.3_Missense_Mutation_p.R1189C|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1194					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGCCCCCACGGGGCTGCAGC	0.637000													18	51					0	0	1	0	0
ACBD4	79777	broad.mit.edu	37	17	43220921	43220921	+	Missense_Mutation	SNP	C	C	T	rs35205304		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:43220921C>T	ENST00000398322.3	+	9	1359	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ACBD4_ENST00000586346.1_Silent_p.F313F|ACBD4_ENST00000431281.1_Silent_p.F313F|ACBD4_ENST00000592162.1_Missense_Mutation_p.S254L|ACBD4_ENST00000591859.1_Silent_p.F313F|ACBD4_ENST00000321854.8_Missense_Mutation_p.R301W	NM_024722.2	NP_078998.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	0							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCGAATGTTTCGGACCCAAAA	0.602000													20	69					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53452878	53452878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:53452878C>T	ENST00000314250.6	+	18	1743	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	TENC1_ENST00000549700.1_Nonsense_Mutation_p.Q485*|TENC1_ENST00000379902.3_Nonsense_Mutation_p.Q361*|TENC1_ENST00000314276.3_Nonsense_Mutation_p.Q495*|TENC1_ENST00000546602.1_Nonsense_Mutation_p.Q485*|TENC1_ENST00000552570.1_Nonsense_Mutation_p.Q485*|TENC1_ENST00000451358.1_Nonsense_Mutation_p.Q485*	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	485					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCCTTATGCCCAGGTGCAGCG	0.682000													28	88					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379449	121379449	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:121379449T>C	ENST00000297848.3	+	46	5387	c.5117T>C	c.(5116-5118)gTt>gCt	p.V1706A	COL14A1_ENST00000309791.4_Missense_Mutation_p.V1706A|COL14A1_ENST00000247781.3_Missense_Mutation_p.V1611A	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1706	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCCAGGCGTTGGAACCCAA	0.363000													4	13					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334044	37334044	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:37334044C>T	ENST00000262825.5	+	14	2429	c.2212C>T	c.(2212-2214)Ccc>Tcc	p.P738S	CSF2RB_ENST00000403662.3_Missense_Mutation_p.P732S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P738S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P679S	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	732					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTCCCTAGTTCCCTCTCTGGG	0.627000													21	78					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117849292	117849292	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:117849292C>T	ENST00000350763.4	-	3	1129	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	TNC_ENST00000542877.1_Missense_Mutation_p.E240K|TNC_ENST00000537320.1_Missense_Mutation_p.E240K|TNC_ENST00000340094.3_Missense_Mutation_p.E240K|TNC_ENST00000346706.3_Missense_Mutation_p.E240K|TNC_ENST00000423613.2_Missense_Mutation_p.E240K|TNC_ENST00000341037.4_Missense_Mutation_p.E240K|TNC_ENST00000345230.3_Missense_Mutation_p.E240K|TNC_ENST00000535648.1_Missense_Mutation_p.E240K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	240	EGF-like 3.				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						GCGTAGCCTTCGAAACAGATG	0.607000													13	56					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986117	46986117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:46986117C>T	ENST00000306503.5	+	2	620	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	SOCS5_ENST00000394861.2_Nonsense_Mutation_p.Q150*	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	150					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGTGGACTTCAAAGGAGAGA	0.468000													14	56					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608151	24608151	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:24608151C>T	ENST00000379145.1	-	4	465	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Missense_Mutation_p.E159K|PCYT1B_ENST00000356768.4_Missense_Mutation_p.E159K	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	159	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTGTGTTTTTCCAGAAACTCT	0.483000													6	10					0	0	1	0	0
RP11-481J13.1	0	broad.mit.edu	37	2	56210147	56210147	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:56210147G>A	ENST00000606639.1	+	0	82				MIR217_ENST00000384817.1_RNA|AC011306.2_ENST00000446139.1_lincRNA																							GATGGTGACTGATTCTTATCC	0.343000													5	21					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79615126	79615126	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:79615126C>T	ENST00000328585.4	+	0	960				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGCGCGCGAACCTGGCTGCCT	0.751000													4	12					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37612221	37612221	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:37612221C>T	ENST00000399151.3	+	18	3120	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1012					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGAGAACCTCCATCCACTGC	0.657000													3	11					0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51895873	51895873	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:51895873G>A	ENST00000333127.3	+	2	47		c.e2-1		IQCF2_ENST00000429548.1_Splice_Site	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2											endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCTGATGACAGACCAAAGGCA	0.333000													10	38					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231368904	231368904	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:231368904C>T	ENST00000264052.5	+	21	2124	c.1769C>T	c.(1768-1770)cCa>cTa	p.P590L	SP100_ENST00000409112.1_Missense_Mutation_p.P590L|SP100_ENST00000340126.4_Missense_Mutation_p.P590L	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	590					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTTGCAGGTCCAAGAATTCCC	0.373000													12	38					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933935	73933935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:73933935C>T	ENST00000476977.1	+	6	2493	c.802C>T	c.(802-804)Cga>Tga	p.R268*	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Nonsense_Mutation_p.R268*|GTF2IRD1_ENST00000424337.2_Nonsense_Mutation_p.R268*|GTF2IRD1_ENST00000455841.2_Nonsense_Mutation_p.R300*			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	268						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCACGCCATCCGAGAGCTCAA	0.687000													16	55					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922010	190922010	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:190922010C>T	ENST00000260950.4	-	3	1234	c.1102G>A	c.(1102-1104)Gta>Ata	p.V368I	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	368					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CGGTCTACTACCATCGCTGGA	0.378000													6	37					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333467	70333467	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:70333467G>A	ENST00000338508.4	-	32	2933	c.2934C>T	c.(2932-2934)ttC>ttT	p.F978F	SHANK2_ENST00000423696.2_Silent_p.F598F|SHANK2_ENST00000449833.2_Silent_p.F382F|SHANK2_ENST00000409161.1_Silent_p.F381F			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	598					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCTTGTTGCGGAAGTTGGCTT	0.592000													43	155					0	0	1	0	0
SRI	6717	broad.mit.edu	37	7	87848226	87848226	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:87848226G>A	ENST00000265729.2	-	2	135	c.83C>T	c.(82-84)cCc>cTc	p.P28L	SRI_ENST00000419179.1_Missense_Mutation_p.P28L|SRI_ENST00000431660.1_Missense_Mutation_p.P13L|SRI_ENST00000394641.3_Missense_Mutation_p.P13L|CTB-167B5.1_ENST00000520993.1_RNA|SRI_ENST00000490437.1_Intron	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	28					heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					AGTTTGTCCGGGAAACGCAGG	0.473000													13	48					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873796	36873796	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:36873796G>A	ENST00000429976.2	-	21	7393	c.7146C>T	c.(7144-7146)taC>taT	p.Y2382Y	TRANK1_ENST00000428977.2_Silent_p.Y1832Y|TRANK1_ENST00000301807.6_Silent_p.Y1832Y			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2382					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGAGCCTCTTGTAGTCTTCTG	0.468000													19	108					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279899	47279899	+	Missense_Mutation	SNP	G	G	A	rs138537119	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:47279899G>A	ENST00000271153.4	+	7	827	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	CYP4B1_ENST00000452782.2_Missense_Mutation_p.R102Q|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R250Q|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R265Q			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	264			R -> W (in dbSNP:rs45446505).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ATCAGGGAGCGGAAGGCAGCC	0.572000													6	21					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76920202	76920202	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:76920202G>A	ENST00000373344.5	-	11	4089	c.3875C>T	c.(3874-3876)tCa>tTa	p.S1292L	ATRX_ENST00000395603.3_Missense_Mutation_p.S1254L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1292					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCATCATCTGAAGATCCATC	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						12	32					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409702	80409702	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:80409702G>A	ENST00000265080.4	+	15	2500	c.2433G>A	c.(2431-2433)gtG>gtA	p.V811V	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	811					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCCACGCGTGGATCTGTGTA	0.493000													20	58					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67425091	67425091	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:67425091G>A	ENST00000382713.5	+	7	1028	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	280							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGCGTTGGTGAAATCTACAG	0.443000													13	30					0	0	1	0	0
FAM9B	171483	broad.mit.edu	37	X	9000383	9000383	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:9000383C>T	ENST00000362066.3	-	2	471	c.284_splice	c.e2+1	p.G95_splice	FAM9B_ENST00000327220.5_Splice_Site_p.G50_splice|FAM9B_ENST00000428477.1_Splice_Site_p.G50_splice			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	50						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				ACACTTTACCCCGTGTGTTCA	0.413000													42	75					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999699	46999699	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:46999699G>A	ENST00000374314.4	+	1	1774	c.819G>A	c.(817-819)caG>caA	p.Q273Q	GPRIN2_ENST00000374317.1_Silent_p.Q273Q			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	273										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGCAGGCTCAGCATGGGGTGA	0.627000													9	60					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	855735	855735	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:855735C>G	ENST00000590230.1	+	5	679	c.538C>G	c.(538-540)Ctc>Gtc	p.L180V	ELANE_ENST00000263621.1_Missense_Mutation_p.L180V			P08246	ELNE_HUMAN	elastase, neutrophil expressed	180	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGTGACGTCCCTCTGCCGTCG	0.687000													28	120					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85674156	85674156	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:85674156C>T	ENST00000316824.3	+	1	272	c.117C>T	c.(115-117)tcC>tcT	p.S39S		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	39					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		ACAATGAGTCCTTTTACAGCA	0.582000													25	74					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564320	36564320	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:36564320G>A	ENST00000397799.1	-	4	1186	c.962C>T	c.(961-963)cCa>cTa	p.P321L	COL8A2_ENST00000481785.1_Missense_Mutation_p.P256L|COL8A2_ENST00000303143.4_Missense_Mutation_p.P321L			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	321	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTGGGGCCTGGCAGTCCTGG	0.716000													3	34					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58047965	58047965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:58047965C>T	ENST00000556826.1	-	4	1010	c.774G>A	c.(772-774)tgG>tgA	p.W258*	SLC35F4_ENST00000554729.1_Nonsense_Mutation_p.W135*|RP11-409I10.2_ENST00000555600.1_RNA|SLC35F4_ENST00000339762.6_Nonsense_Mutation_p.W294*	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGCACAATCCATGACAGCA	0.458000													5	26					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100064255	100064255	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:100064255G>A	ENST00000524871.1	+	15	2034	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.E582K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E582K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E508K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E582K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	582	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TAAAAGAACAGAATTGACAGT	0.343000													7	19					0	0	1	0	0
MIR656	724026	broad.mit.edu	37	14	101533120	101533120	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:101533120C>T	ENST00000385224.1	+	0	60					NR_030392.1																						TACAGTCAACCTCTTTCCGAT	0.498000													24	66					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453617	74453617	+	Missense_Mutation	SNP	G	G	A	rs142555062		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:74453617G>A	ENST00000307439.5	-	5	616	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	RASSF6_ENST00000395777.2_Missense_Mutation_p.R108C|RASSF6_ENST00000335049.5_Missense_Mutation_p.R96C|RASSF6_ENST00000342081.3_Missense_Mutation_p.R140C	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	140					apoptosis|signal transduction		protein binding	p.R140C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCACTAATACGATAGAGATCG	0.383000													15	54					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078196	111078196	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:111078196G>A	ENST00000262839.2	-	7	2767	c.1849C>T	c.(1849-1851)Ctg>Ttg	p.L617L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	617					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCATGTTCAGCAGCACTACC	0.438000													4	147					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1270987	1270987	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:1270987G>A	ENST00000589710.1	+	2	202	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CIRBP_ENST00000588090.1_Missense_Mutation_p.E19K|CIRBP_ENST00000586472.1_Missense_Mutation_p.E19K|CIRBP_ENST00000413636.2_Missense_Mutation_p.E19K|CIRBP_ENST00000588030.1_Missense_Mutation_p.E19K|CIRBP_ENST00000589686.1_Missense_Mutation_p.E19K|CIRBP_ENST00000444172.2_Start_Codon_SNP_p.M1I|CIRBP_ENST00000320936.5_Missense_Mutation_p.E19K|CIRBP_ENST00000589235.1_Missense_Mutation_p.E19K|CIRBP_ENST00000587896.1_Missense_Mutation_p.E19K|CIRBP_ENST00000587323.1_Missense_Mutation_p.E19K|CIRBP_ENST00000589660.1_Missense_Mutation_p.E19K|CIRBP_ENST00000585630.1_Missense_Mutation_p.E19K|CIRBP_ENST00000586773.1_Missense_Mutation_p.E19K|CIRBP_ENST00000591935.1_Missense_Mutation_p.E19K|CIRBP_ENST00000588230.1_Missense_Mutation_p.E19K			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	19	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		tgacaccaatgaGCAGTCGCT	0.577000													58	196					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71358661	71358661	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:71358661G>A	ENST00000373677.1	+	2	1427	c.165G>A	c.(163-165)ggG>ggA	p.G55G	NHSL2_ENST00000540800.1_Silent_p.G421G|NHSL2_ENST00000535692.1_Silent_p.G55G|NHSL2_ENST00000510661.1_Silent_p.G190G			F5H593	F5H593_HUMAN	NHS-like 2	421										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CTTCCTGTGGGAATTCTTGGG	0.502000													17	12					0	0	1	0	0
PSMD12	5718	broad.mit.edu	37	17	65346451	65346451	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:65346451G>A	ENST00000356126.3	-	4	406	c.297_splice	c.e4-1	p.A100_splice	PSMD12_ENST00000357146.4_Splice_Site_p.A80_splice|PSMD12_ENST00000581618.1_5'UTR	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	100					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TTTGGCAACAGCCTAAAATAT	0.348000													6	10					0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566814	103566814	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:103566814C>T	ENST00000380069.3	+	1	334	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	86										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGTTCCGGTCCTTCCGGCAAG	0.652000													8	25					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769655	140769655	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140769655C>T	ENST00000519479.1	+	1	2204	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCCGAATCCGTGGTTCCC	0.527000													55	229					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047452	73047452	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:73047452G>A	ENST00000604411.1	+	0	35413				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AATTTAAAACGAACGAGAAGG	0.393000													4	4					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71150108	71150108	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:71150108A>T	ENST00000355527.3	-	7	924	c.648T>A	c.(646-648)ttT>ttA	p.F216L	DHCR7_ENST00000407721.2_Missense_Mutation_p.F216L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	216					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	TGTAGTTGTAAAAGAAATTGC	0.448000									Smith-Lemli-Opitz syndrome				5	28					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170592531	170592531	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:170592531G>A	ENST00000366756.3	-	9	2169	c.1836C>T	c.(1834-1836)atC>atT	p.I612I		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	612					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGGTGTTCTTGATCTGCGTGG	0.612000													35	105					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36492878	36492878	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:36492878C>T	ENST00000373191.4	+	12	1919	c.1570C>T	c.(1570-1572)Ccg>Tcg	p.P524S	AGO3_ENST00000246314.6_Missense_Mutation_p.P290S	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		CGTCATCCTGCCGGGGAAGAC	0.433000													11	40					0	0	1	0	0
CRYBB2P1	1416	broad.mit.edu	37	22	25855388	25855388	+	RNA	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:25855388T>C	ENST00000354451.2	+	0	272																											TGCAGGTGGGTTGGCTACTAG	0.597000													10	54					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441472	37441472	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:37441472C>G	ENST00000415168.1	+	5	1601	c.1225C>G	c.(1225-1227)Cct>Gct	p.P409A	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.P473A	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAGAGAAACCTTATGAATG	0.398000													19	48					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665255	157665255	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:157665255C>T	ENST00000368184.3	-	8	1566	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	FCRL3_ENST00000368186.5_Silent_p.G425G|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	425	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGAGCTGTTCCCCAGGGTGA	0.577000													59	121					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159616	154159616	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:154159616G>C	ENST00000360256.4	-	14	2649	c.2449C>G	c.(2449-2451)Cct>Gct	p.P817A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	817	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTGGAGTAGGACTCTGTCGC	0.423000													29	43					0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052132	68052132	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:68052132C>T	ENST00000344096.3	+	3	1858	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	DYRK2_ENST00000393555.3_Missense_Mutation_p.S409F	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	482	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GGAGGCCGTTCCCGGAGGGGG	0.547000													23	75					0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36572546	36572546	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:36572546C>T	ENST00000373461.4	+	4	753	c.506C>T	c.(505-507)tCc>tTc	p.S169F	VSTM2L_ENST00000373459.4_Silent_p.L95L|VSTM2L_ENST00000373458.3_Missense_Mutation_p.S152F	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	169										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GGGGAGAACTCCGTCCTGCAT	0.706000													4	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179494158	179494158	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179494158C>T	ENST00000589042.1	-	240	44518	c.44294G>A	c.(44293-44295)gGt>gAt	p.G14765D	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G13124D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5700D|TTN_ENST00000342175.6_Missense_Mutation_p.G5892D|TTN_ENST00000359218.5_Missense_Mutation_p.G5825D|TTN_ENST00000342992.6_Missense_Mutation_p.G12197D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13124	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAGAAGACCAATTACTCG	0.438000													11	63					0	0	1	0	0
AATF	26574	broad.mit.edu	37	17	35310360	35310360	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:35310360G>A	ENST00000225402.5	+	3	709	c.458G>A	c.(457-459)aGt>aAt	p.S153N		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	153	Glu-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				AGTGTCCAGAGTATCAGTGAC	0.532000													16	47					0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95601066	95601066	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:95601066C>T	ENST00000568768.1	-	0	181																											GTTACCTTTCCCGTTCTGGAA	0.348000													4	22					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179605503	179605503	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:179605503T>C	ENST00000467460.1	-	4	598	c.268A>G	c.(268-270)Aaa>Gaa	p.K90E	PEX5L_ENST00000485199.1_Missense_Mutation_p.K55E|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.K47E|PEX5L_ENST00000472994.1_Missense_Mutation_p.K31E|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.K47E|PEX5L_ENST00000392649.3_Missense_Mutation_p.K47E|PEX5L_ENST00000263962.8_Missense_Mutation_p.K88E|PEX5L_ENST00000465751.1_Missense_Mutation_p.K66E	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	90					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCTTCCGATTTGGTTTCACAG	0.413000													44	171					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162402212	162402212	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:162402212C>T	ENST00000306100.5	-	13	2004	c.1568G>A	c.(1567-1569)aGa>aAa	p.R523K	FSTL5_ENST00000427802.2_Missense_Mutation_p.R513K|FSTL5_ENST00000536695.1_Missense_Mutation_p.R522K|FSTL5_ENST00000379164.4_Missense_Mutation_p.R522K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	523						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATAAGGACTCTGTCCAAAGT	0.353000													19	83					0	0	1	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170163	107170163	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:107170163G>A	ENST00000390633.2	-	0	179																											AGCCTTGCAGGAGACCTTCAC	0.592000													22	130					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306467	3306467	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:3306467G>A	ENST00000219596.1	-	1	160	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	MEFV_ENST00000339854.4_Missense_Mutation_p.P41S|MEFV_ENST00000536379.1_Missense_Mutation_p.P41S|MEFV_ENST00000541159.1_Missense_Mutation_p.P41S	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	41	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGGCTCCGGGGGATCCTGGAG	0.592000													25	77					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15669713	15669713	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:15669713G>A	ENST00000281171.4	+	9	1932	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	PTPRO_ENST00000543886.1_Silent_p.K534K|PTPRO_ENST00000348962.2_Silent_p.K534K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	534	Fibronectin type-III 6.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CAGGAATAAAGGATTTAATGC	0.423000													14	73					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50444480	50444480	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:50444480G>A	ENST00000331340.3	+	4	565	c.410G>A	c.(409-411)aGa>aAa	p.R137K	IKZF1_ENST00000349824.4_Missense_Mutation_p.R137K|IKZF1_ENST00000357364.4_Missense_Mutation_p.R137K|IKZF1_ENST00000440768.2_Missense_Mutation_p.R137K|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.R137K|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.R137K|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	137					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GTTCACAAAAGAAGCCACACT	0.488000			"""D,T"""	BCL6	"""ALL, DLBCL"""								23	32					0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166261466	166261466	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:166261466C>T	ENST00000261507.6	+	5	798	c.625C>T	c.(625-627)Cat>Tat	p.H209Y	MSMO1_ENST00000393766.2_Missense_Mutation_p.H78Y|MSMO1_ENST00000504317.1_Missense_Mutation_p.H209Y	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	209					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	p.H209Y(1)								NADH(DB00157)	TTTGTGTGATCATGTAATTCT	0.368000													12	62					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50156434	50156434	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:50156434G>A	ENST00000360565.3	+	7	2912	c.2788G>A	c.(2788-2790)Gga>Aga	p.G930R		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	930					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGTCCGCAGTGGAGGTGGCAG	0.617000													8	5					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229239	8229239	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:8229239C>T	ENST00000539824.1	+	12	1964	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	SH3TC1_ENST00000245105.3_Silent_p.N606N			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	606							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGTACGCCAACCTGGCCAGCA	0.632000													26	150					0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16056393	16056393	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:16056393C>T	ENST00000375799.3	+	14	2404	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V	PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A706V	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	726					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGGCACTGGCCAAATTTGTG	0.557000													17	52					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51398398	51398398	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:51398398C>T	ENST00000216392.7	-	4	853	c.521G>A	c.(520-522)gGa>gAa	p.G174E	PYGL_ENST00000532462.1_Missense_Mutation_p.G174E|PYGL_ENST00000544180.2_Missense_Mutation_p.G140E	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	174					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CACCTGCCATCCATCTCGGAT	0.418000													14	43					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030305	6030305	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:6030305C>T	ENST00000356134.5	-	3	494	c.423G>A	c.(421-423)ctG>ctA	p.L141L	ANO2_ENST00000546188.1_Silent_p.L141L|ANO2_ENST00000327087.8_Silent_p.L141L	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	145						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CGAGCGGTCCCAGCTCAATGT	0.612000													15	45					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885560	63885560	+	Silent	SNP	G	G	A	rs149018598		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:63885560G>A	ENST00000246841.3	+	2	2864	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	579					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GGACCAAGAAGGATAACTCCA	0.592000													13	56					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12447430	12447430	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:12447430G>A	ENST00000397026.2	+	7	986	c.603G>A	c.(601-603)gcG>gcA	p.A201A	PPARG_ENST00000397000.1_Silent_p.A195A|PPARG_ENST00000397010.2_Silent_p.A195A|PPARG_ENST00000539812.1_Silent_p.A193A|PPARG_ENST00000397015.2_Silent_p.A195A|PPARG_ENST00000309576.6_Silent_p.A195A|PPARG_ENST00000287820.6_Silent_p.A223A|PPARG_ENST00000397012.2_Silent_p.A195A			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	223					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.A223A(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AGCTGTTGGCGGAGATCTCCA	0.512000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						15	62					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639517	7639517	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:7639517G>A	ENST00000359156.4	-	9	2318	c.2116C>T	c.(2116-2118)Cca>Tca	p.P706S	CD163_ENST00000541972.1_Missense_Mutation_p.P694S|CD163_ENST00000432237.2_Missense_Mutation_p.P706S|CD163_ENST00000396620.3_Missense_Mutation_p.P739S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	706					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTTTCTTCTGGAATGGTAGGC	0.418000													10	30					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170828506	170828506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:170828506G>A	ENST00000436636.2	-	19	2625	c.2281C>T	c.(2281-2283)Cga>Tga	p.R761*	TNIK_ENST00000538048.1_Nonsense_Mutation_p.R706*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R706*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R706*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R677*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R732*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R732*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R732*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R761*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R677*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	761	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R761*(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTTTTACCTCGAACTCTGGTG	0.542000													3	11					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73815766	73815766	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:73815766G>A	ENST00000293218.3	+	13	1776	c.1774_splice	c.e13-1	p.E592_splice	RP11-552F3.4_ENST00000586808.1_RNA|UNK_ENST00000589666.1_Splice_Site_p.E516_splice			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	516							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCCCTAGAGTCTGCTTTGG	0.577000													20	52					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102591178	102591178	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:102591178C>T	ENST00000330847.1	+	2	931	c.887C>T	c.(886-888)tCg>tTg	p.S296L	NR4A3_ENST00000395097.2_Missense_Mutation_p.S285L|NR4A3_ENST00000338488.4_Missense_Mutation_p.S285L			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	285					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGCAGGAGCTCGTCGTCTGGC	0.716000			T	EWSR1	extraskeletal myxoid chondrosarcoma								3	6					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9401956	9401956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:9401956C>T	ENST00000378501.2	+	23	2146	c.2131C>T	c.(2131-2133)Caa>Taa	p.Q711*	PLCB4_ENST00000278655.4_Nonsense_Mutation_p.Q711*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.Q723*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.Q711*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.Q711*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.Q723*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	711	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATATCAGGTCAATTCTTATC	0.408000													13	46					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900899	51900899	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:51900899G>A	ENST00000268919.4	+	1	661	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	169					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						GCTGCAGCAGGAGATCCGAGC	0.547000													23	89					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66541973	66541973	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:66541973C>T	ENST00000360242.5	+	5	1121	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	CCDC102B_ENST00000358653.5_Missense_Mutation_p.S335F|CCDC102B_ENST00000584156.1_Missense_Mutation_p.S335F|CCDC102B_ENST00000319445.6_Missense_Mutation_p.S335F|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	335										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAGGAAGAATCCAAATCTCAA	0.338000													16	40					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608267	28608267	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:28608267A>T	ENST00000380982.4	-	14	1870	c.1789T>A	c.(1789-1791)Tat>Aat	p.Y597N	FLT3_ENST00000537084.1_Missense_Mutation_p.Y597N|FLT3_ENST00000241453.7_Missense_Mutation_p.Y597N			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	597	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.E596_Y597ins12(3)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCATATTCATATTCTCTGAAA	0.378000			"""Mis, O"""		"""AML, ALL"""								12	22					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109904	42109904	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:42109904G>A	ENST00000457542.2	+	16	2161	c.1875G>A	c.(1873-1875)acG>acA	p.T625T	MAPKBP1_ENST00000260357.7_Silent_p.T464T|MAPKBP1_ENST00000514566.1_Silent_p.T625T|MAPKBP1_ENST00000456763.2_Silent_p.T631T|MAPKBP1_ENST00000221214.6_Silent_p.T508T	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	631										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGAAGTACACGGCTATCGGCT	0.587000													8	18					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C	rs146982767	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							GATTTGTTCATGCCTTCCCTT	0.448000													3	43					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2413897	2413897	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:2413897C>A	ENST00000332578.3	+	9	1352	c.1352C>A	c.(1351-1353)gCc>gAc	p.A451D		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	451					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCCCCTGCCGCCCCCAGC	0.662000													5	29					3.59834e-05	3.61232e-05	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5282980	5282980	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:5282980G>A	ENST00000546004.1	-	3	1107	c.861C>T	c.(859-861)tgC>tgT	p.C287C	PROKR2_ENST00000217270.3_Silent_p.C287C			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	287						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGGGTGCCCAGCACAGCACAT	0.577000										HNSCC(71;0.22)			15	45					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169108827	169108827	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:169108827T>C	ENST00000256935.8	+	7	630	c.550T>C	c.(550-552)Ttc>Ctc	p.F184L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	184					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCAGCTTGTTCCATGCACA	0.393000													38	99					0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965817	43965817	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:43965817G>A	ENST00000244333.3	-	5	815	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	243						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GGCTCTGGAGGGGGCAGCCGG	0.622000													116	124					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179200914	179200914	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:179200914C>T	ENST00000292599.3	+	5	2350	c.2087C>T	c.(2086-2088)cCc>cTc	p.P696L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	696					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCCGTGCCCGGCATGAAC	0.592000													37	137					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95907507	95907507	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:95907507C>T	ENST00000323666.5	+	11	1493	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	METAP2_ENST00000546753.1_Missense_Mutation_p.R399C|METAP2_ENST00000551840.1_Missense_Mutation_p.R421C|METAP2_ENST00000550777.1_Missense_Mutation_p.R386C|METAP2_ENST00000261220.9_Missense_Mutation_p.R399C	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	422					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	ATGGCTGGATCGCTTGGGAGA	0.403000													18	93					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417539	150417539	+	Silent	SNP	C	C	T	rs150494282	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:150417539C>T	ENST00000307194.5	+	3	587	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGATGGTCATCGTCTTCACCA	0.642000													19	100					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142605727	142605727	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:142605727C>T	ENST00000265310.1	-	15	2491	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	715	Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.G715*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGTTCAGTCCAAGATTCAAG	0.572000													33	73					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38945959	38945959	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:38945959G>A	ENST00000355481.4	+	14	1656	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RYR1_ENST00000360985.3_Missense_Mutation_p.E509K|RYR1_ENST00000359596.3_Missense_Mutation_p.E509K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	509					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCAGGGGAGGAGGCAGCCGA	0.532000													18	75					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78938185	78938185	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:78938185G>A	ENST00000545128.1	+	31	4777	c.4239G>A	c.(4237-4239)aaG>aaA	p.K1413K		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	662					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATTATGAAAAGGAGACTAAGG	0.537000													9	24					0	0	1	0	0
SLC35E1	79939	broad.mit.edu	37	19	16666131	16666131	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:16666131G>A	ENST00000595753.1	-	5	851	c.834C>T	c.(832-834)atC>atT	p.I278I	CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	278					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TGCTGAAGGCGATAACATTCT	0.557000													24	105					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447709	63447709	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:63447709C>T	ENST00000322893.7	-	6	1091	c.823G>A	c.(823-825)Gga>Aga	p.G275R	KCNH5_ENST00000420622.2_Missense_Mutation_p.G275R|KCNH5_ENST00000394964.2_Missense_Mutation_p.G217R|KCNH5_ENST00000394968.1_Missense_Mutation_p.G217R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	275					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATGACCTCTCCACCGGGCCCC	0.438000													9	47					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55467224	55467224	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:55467224A>G	ENST00000394600.3	-	15	2529	c.1793T>C	c.(1792-1794)aTa>aCa	p.I598T	MTIF2_ENST00000403721.1_Missense_Mutation_p.I598T|MTIF2_ENST00000263629.4_Missense_Mutation_p.I598T	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	598					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ACGGTAAATTATTTTGTGAAG	0.388000													11	24					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36380973	36380973	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:36380973C>T	ENST00000373204.4	+	15	2071	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	AGO1_ENST00000373206.1_Missense_Mutation_p.P545S	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GGATGCCCACCCCAGCCGATA	0.512000													16	61					0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110944415	110944415	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:110944415C>T	ENST00000409246.1	+	4	414	c.89C>T	c.(88-90)tCc>tTc	p.S30F	RAD9B_ENST00000392672.4_Missense_Mutation_p.S102F|RAD9B_ENST00000409300.1_Missense_Mutation_p.S102F|RAD9B_ENST00000409778.3_Missense_Mutation_p.S102F|RAD9B_ENST00000409425.1_Missense_Mutation_p.S30F|RAD9B_ENST00000433301.1_3'UTR			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	99					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGTCTGAATTCCCTTGAAAGA	0.294000													20	77					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315260	22315260	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:22315260C>T	ENST00000390434.3	+	0	423																											TCCAGCTTCTCCTGAAGTACA	0.498000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	138					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27427696	27427696	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:27427696G>A	ENST00000263980.3	-	11	2683	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	SLC9A1_ENST00000545949.1_Missense_Mutation_p.S364L	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	703					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCCCTTACCTGAGCCGATGCG	0.632000													6	26					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74364955	74364955	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:74364955G>A	ENST00000226355.3	+	11	1507	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	472	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCCTGTGTTGATAATTTGGT	0.388000													8	26					0	0	1	0	0
RPUSD1	113000	broad.mit.edu	37	16	836074	836074	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:836074G>A	ENST00000561734.1	-	5	1058	c.815C>T	c.(814-816)cCc>cTc	p.P272L	RPUSD1_ENST00000567114.1_Missense_Mutation_p.P143L|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Missense_Mutation_p.P272L			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	272	Pro-rich.				pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GAGTGCGGAGGGGCTGCCTGG	0.731000													11	34					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105419	168105419	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:168105419G>A	ENST00000409195.1	+	9	7606	c.7517G>A	c.(7516-7518)gGa>gAa	p.G2506E	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2284E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2506E|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2331					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGTTCCAGGAACTTCAGCA	0.378000													16	73					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128528457	128528457	+	Silent	SNP	T	T	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:128528457T>G	ENST00000322313.4	-	2	257	c.99A>C	c.(97-99)gcA>gcC	p.A33A	WDR33_ENST00000409658.3_Silent_p.A33A|WDR33_ENST00000393006.1_Silent_p.A33A	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	33			A -> S (in dbSNP:rs11557686).		postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTTGCTGTTGTGCAAAATCAG	0.418000													8	27					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48240500	48240500	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:48240500C>G	ENST00000229022.3	-	9	1128	c.847G>C	c.(847-849)Gac>Cac	p.D283H	VDR_ENST00000549336.1_Missense_Mutation_p.D283H|VDR_ENST00000550325.1_Missense_Mutation_p.D333H|VDR_ENST00000395324.2_Missense_Mutation_p.D283H|VDR_ENST00000535672.1_Missense_Mutation_p.D251H	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	283	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGGACATGTCGTCCATGGTG	0.537000													15	69					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62377144	62377144	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:62377144G>A	ENST00000394773.2	-	5	898	c.591C>T	c.(589-591)tcC>tcT	p.S197S	EML3_ENST00000494176.2_Silent_p.S169S|EML3_ENST00000531557.1_5'UTR|EML3_ENST00000529309.1_Silent_p.S197S|EML3_ENST00000278845.4_Silent_p.S198S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	197						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCAGGGCTGGAGAGGGGGT	0.557000													53	149					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131313	150131313	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:150131313C>T	ENST00000369124.4	+	6	1103	c.825C>T	c.(823-825)atC>atT	p.I275I	PLEKHO1_ENST00000025469.6_Silent_p.I241I|PLEKHO1_ENST00000369126.1_Silent_p.I92I	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	275	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGAGGAGATCCTATCTCAGC	0.657000													9	56					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102646024	102646024	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:102646024G>A	ENST00000279441.4	-	7	997	c.961C>T	c.(961-963)Cct>Tct	p.P321S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	321	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCAGGTTCAGGGTTCCAGTGG	0.323000													11	51					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15533976	15533976	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:15533976T>C	ENST00000389282.4	-	10	5080	c.4867A>G	c.(4867-4869)Atc>Gtc	p.I1623V	WIZ_ENST00000599910.1_Missense_Mutation_p.I940V|WIZ_ENST00000599686.2_Missense_Mutation_p.I807V|WIZ_ENST00000545156.1_Missense_Mutation_p.I937V|WIZ_ENST00000263381.6_Missense_Mutation_p.I766V			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1623						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ATCTCCAGGATGTGCCGCTGT	0.617000													14	52					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47741137	47741137	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:47741137G>A	ENST00000371828.3	-	7	859	c.372C>T	c.(370-372)ttC>ttT	p.F124F	STAU1_ENST00000371792.1_Intron|STAU1_ENST00000371856.2_Intron|STAU1_ENST00000360426.4_Intron|STAU1_ENST00000347458.5_Intron|STAU1_ENST00000371802.1_Silent_p.F124F|STAU1_ENST00000340954.7_Intron	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	203	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTTCAGAGGGAAAGACTGAG	0.532000													10	41					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183050710	183050710	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:183050710G>A	ENST00000435564.1	-	13	1673	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	PDE1A_ENST00000409365.1_Silent_p.S475S|PDE1A_ENST00000456212.1_Silent_p.S491S|PDE1A_ENST00000410103.1_Silent_p.S491S|PDE1A_ENST00000358139.2_Silent_p.S491S|PDE1A_ENST00000346717.4_Silent_p.S457S|PDE1A_ENST00000536095.1_Silent_p.S387S|PDE1A_ENST00000351439.5_Silent_p.S475S|PDE1A_ENST00000331935.6_Silent_p.S491S	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	491	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CTGCTGCAAGGGAGTAGTCTG	0.468000													24	54					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564951	58564951	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:58564951G>A	ENST00000282326.1	+	6	1006	c.759G>A	c.(757-759)agG>agA	p.R253R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	253					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAGAAACAGGAACACTGACC	0.622000													28	37					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92301426	92301426	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:92301426C>T	ENST00000276609.3	+	3	495	c.256C>T	c.(256-258)Cct>Tct	p.P86S	SLC26A7_ENST00000523719.1_Missense_Mutation_p.P86S|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P86S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	86						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GTCTCTGTTTCCTGCCATAAT	0.383000													24	100					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158300366	158300366	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:158300366C>T	ENST00000264192.3	-	1	288	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	56					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TACCTGCTTTCGTCCCCGAGG	0.448000													19	74					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	C	T	rs144276666		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:29012269C>T	ENST00000377175.1	-	1	748	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000													25	106					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469578	72469578	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:72469578G>A	ENST00000296776.5	+	1	557	c.508G>A	c.(508-510)Gga>Aga	p.G170R	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	170						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CATAACCTCTGGAGGGGCAGC	0.532000													16	54					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775619	47775619	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:47775619C>T	ENST00000376954.1	+	6	1942	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	ZNF81_ENST00000338637.7_Missense_Mutation_p.S525F			P51508	ZNF81_HUMAN	zinc finger protein 81	525						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGAGAAAAGTCTTATATATGT	0.423000													20	25					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17482058	17482058	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:17482058C>T	ENST00000302539.4	-	6	1113	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E330K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	330	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.E330K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACGTCGTTCTCCTTCCCAAGG	0.592000													37	126					0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32636331	32636331	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:32636331C>A	ENST00000373625.3	+	14	1540	c.1447C>A	c.(1447-1449)Cag>Aag	p.Q483K	KPNA6_ENST00000545542.1_Missense_Mutation_p.Q488K|KPNA6_ENST00000537234.1_Missense_Mutation_p.Q480K	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	483					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGTTTCTCCAGAGCCACGA	0.468000													16	66					2.35188e-11	2.38419e-11	1	1	0
EPB41L5	57669	broad.mit.edu	37	2	120834608	120834608	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:120834608C>T	ENST00000263713.5	+	8	781	c.567C>T	c.(565-567)ttC>ttT	p.F189F	EPB41L5_ENST00000443902.2_Silent_p.F189F|EPB41L5_ENST00000443124.1_Silent_p.F189F|EPB41L5_ENST00000452780.1_Silent_p.F189F|EPB41L5_ENST00000331393.4_Silent_p.F189F	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	189	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGTTCAGATTCGTGCCTATTC	0.378000													32	101					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798353	54798353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:54798353G>A	ENST00000474759.1	+	13	1403	c.1355G>A	c.(1354-1356)tGg>tAg	p.W452*	CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.W452*|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.W358*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.W452*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	452	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GATGTGGTGTGGACCGAAGCT	0.517000													17	66					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999184	46999184	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:46999184G>A	ENST00000374314.4	+	1	1259	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	GPRIN2_ENST00000374317.1_Missense_Mutation_p.G102S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	102										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GTCCACCATGGGCGGCAGTGA	0.657000													4	33					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112043145	112043145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:112043145C>T	ENST00000241356.4	-	2	789	c.384G>A	c.(382-384)tgG>tgA	p.W128*	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'UTR	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	128					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CCAGGGCCAGCCATATTCTTC	0.507000													21	77					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809954	7809954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:7809954C>T	ENST00000315599.7	-	5	795	c.773G>A	c.(772-774)tGg>tAg	p.W258*	CD209_ENST00000593660.1_Nonsense_Mutation_p.W188*|CD209_ENST00000602261.1_Nonsense_Mutation_p.W166*|CD209_ENST00000394173.4_Nonsense_Mutation_p.W97*|CD209_ENST00000354397.6_Nonsense_Mutation_p.W258*|CD209_ENST00000301357.8_Nonsense_Mutation_p.W122*|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Nonsense_Mutation_p.W234*|CD209_ENST00000601951.1_Nonsense_Mutation_p.W234*|CD209_ENST00000593821.1_Nonsense_Mutation_p.W122*|CD209_ENST00000601256.1_Nonsense_Mutation_p.W234*|CD209_ENST00000204801.8_Nonsense_Mutation_p.W214*	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	258					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTCCATTCCCAGGGACAGGG	0.567000													22	75					0	0	1	0	0
APOF	319	broad.mit.edu	37	12	56755113	56755113	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:56755113G>A	ENST00000398189.3	-	2	954	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L	APOF_ENST00000541105.1_Silent_p.L275L	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	293					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						AAAGAAGCCAGAGTAGTTGTT	0.483000													11	56					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79411970	79411970	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:79411970G>A	ENST00000370742.3	-	3	377	c.314C>T	c.(313-315)aCc>aTc	p.T105I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	105	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATACAGACGGTTCCATCATT	0.358000													7	23					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867476	6867476	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:6867476T>C	ENST00000299454.4	+	1	594	c.563T>C	c.(562-564)cTg>cCg	p.L188P	OR10A5_ENST00000379831.2_Missense_Mutation_p.L192P			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGCTGAAGCTGGTCTGTGCA	0.522000													25	78					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140640579	140640579	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:140640579G>A	ENST00000509479.2	-	5	4171	c.3315C>T	c.(3313-3315)ttC>ttT	p.F1105F	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	1101					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGCCAGGGAAGGAACCCC	0.587000													10	48					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809953	7809953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:7809953C>T	ENST00000315599.7	-	5	796	c.774G>A	c.(772-774)tgG>tgA	p.W258*	CD209_ENST00000593660.1_Nonsense_Mutation_p.W188*|CD209_ENST00000602261.1_Nonsense_Mutation_p.W166*|CD209_ENST00000394173.4_Nonsense_Mutation_p.W97*|CD209_ENST00000354397.6_Nonsense_Mutation_p.W258*|CD209_ENST00000301357.8_Nonsense_Mutation_p.W122*|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Nonsense_Mutation_p.W234*|CD209_ENST00000601951.1_Nonsense_Mutation_p.W234*|CD209_ENST00000593821.1_Nonsense_Mutation_p.W122*|CD209_ENST00000601256.1_Nonsense_Mutation_p.W234*|CD209_ENST00000204801.8_Nonsense_Mutation_p.W214*	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	258					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATGTCCATTCCCAGGGACAGG	0.567000													21	74					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58112150	58112150	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:58112150C>T	ENST00000315970.7	+	11	1397	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	OS9_ENST00000435406.2_Silent_p.L400L|OS9_ENST00000551035.1_Silent_p.L420L|OS9_ENST00000257966.8_Silent_p.L453L|OS9_ENST00000439210.2_Silent_p.L393L|OS9_ENST00000413095.2_Silent_p.L246L|OS9_ENST00000389142.5_Silent_p.L452L|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Silent_p.L452L|OS9_ENST00000552285.1_Silent_p.L452L	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	452					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGACCGGCTCCGTTCGGAGG	0.567000													11	47					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495248	32495248	+	Silent	SNP	C	C	T	rs139774349	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:32495248C>T	ENST00000266088.4	+	12	1609	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	SLC5A1_ENST00000543737.1_Silent_p.F326F	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	453					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGCAACTCTTCGATTACATCC	0.498000													54	209					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157414076	157414076	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:157414076C>T	ENST00000310454.6	+	9	1519	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Silent_p.L156L|GPD2_ENST00000409674.1_Silent_p.L383L|GPD2_ENST00000438166.2_Silent_p.L383L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	383					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GCGTAATTACCTGAGTTGTGA	0.408000													4	31					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31653795	31653795	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:31653795T>C	ENST00000395934.2	+	7	777	c.770T>C	c.(769-771)aTt>aCt	p.I257T	ELP4_ENST00000350638.5_Missense_Mutation_p.I257T|ELP4_ENST00000379163.5_Missense_Mutation_p.I258T			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	257					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGAATAGGAATTCAGAATCTT	0.358000													6	30					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452697	106452697	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:106452697C>T	ENST00000390594.2	-	0	388																											ACGGCCGTGTCGTCAGATCTC	0.557000													58	192					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038103	94038103	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:94038103C>T	ENST00000297268.6	+	16	1231	c.760C>T	c.(760-762)Cct>Tct	p.P254S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	254					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCTGCTGGCCCTCCAGGCTT	0.433000										HNSCC(75;0.22)			11	45					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167128972	167128972	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:167128972G>A	ENST00000375387.4	-	17	3631	c.3291C>T	c.(3289-3291)tcC>tcT	p.S1097S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.S1085S|SCN9A_ENST00000409435.1_Silent_p.S1096S|SCN9A_ENST00000303354.6_Silent_p.S1097S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1096						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1085S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTCCAAATCGGATTCCCCAG	0.413000													3	11					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69111322	69111322	+	Silent	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:69111322A>G	ENST00000361055.4	-	10	756	c.702T>C	c.(700-702)ttT>ttC	p.F234F	UBA3_ENST00000349511.4_Silent_p.F220F|UBA3_ENST00000415609.2_Silent_p.F193F|UBA3_ENST00000540295.1_Silent_p.F57F	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	234					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TGCACATGGGAAAATTAACCT	0.368000													25	76					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714468	183714468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:183714468C>T	ENST00000511685.1	+	26	6766	c.6643C>T	c.(6643-6645)Cga>Tga	p.R2215*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R2215*					teneurin transmembrane protein 3																		GCTTCTAACTCGAGTTTACAG	0.488000													14	69					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585471	82585471	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:82585471T>A	ENST00000423517.2	-	5	5135	c.4798A>T	c.(4798-4800)Aaa>Taa	p.K1600*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.K1600*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1531					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTTGCCTTTTCCCTTTGTT	0.428000													32	151					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34660440	34660440	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:34660440C>T	ENST00000290200.2	+	6	786	c.678C>T	c.(676-678)atC>atT	p.I226I		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TGGCCGTCATCCTCATGGCCT	0.552000													44	152					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232629367	232629367	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:232629367G>A	ENST00000366630.1	-	3	1881	c.1523C>T	c.(1522-1524)cCa>cTa	p.P508L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P508L|SIPA1L2_ENST00000486472.1_5'UTR			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	508					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GACTGCTACTGGACCAAGGTT	0.453000													84	149					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31165103	31165103	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:31165103C>T	ENST00000349752.5	-	9	1534	c.895G>A	c.(895-897)Gat>Aat	p.D299N	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.D264N|GALNT14_ENST00000356174.3_Missense_Mutation_p.D266N|GALNT14_ENST00000406653.1_Missense_Mutation_p.D279N|GALNT14_ENST00000324589.5_Missense_Mutation_p.D304N	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	299	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATGTCCATATCATATTTCCCC	0.512000													17	92					0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541266	5541266	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:5541266C>T	ENST00000380332.3	-	1	267	c.136G>A	c.(136-138)Gag>Aag	p.E46K		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	46	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						AGCTGGGCCTCCGAGAGGTTC	0.622000													30	82					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623925	25623925	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:25623925C>T	ENST00000398215.2	+	4	450	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	93	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GGACGGACTCCCTCAGCTCCC	0.592000													22	76					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239206	160239206	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:160239206C>T	ENST00000392783.2	-	25	4364	c.3869G>A	c.(3868-3870)cGa>cAa	p.R1290Q	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1256Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1190Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1254Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTCCTTCTTCGCTTGCGTCC	0.473000													3	13					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233393059	233393059	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:233393059C>T	ENST00000258385.3	+	4	363	c.331C>T	c.(331-333)Cca>Tca	p.P111S	CHRND_ENST00000543200.1_Missense_Mutation_p.P96S|CHRND_ENST00000457943.2_Silent_p.S20S|CHRND_ENST00000536614.1_Missense_Mutation_p.P111S	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	111					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GGTGTGGCTCCCAGAGATTGT	0.572000													14	72					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61766961	61766961	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:61766961C>T	ENST00000361357.3	+	12	1340	c.1022C>T	c.(1021-1023)cCc>cTc	p.P341L	MAP3K3_ENST00000584573.1_Missense_Mutation_p.P337L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.P341L|MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P306L|MAP3K3_ENST00000361733.3_Missense_Mutation_p.P310L	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	310					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						ACCCTGGTGCCCTCCAGCCGC	0.607000													5	26					0	0	1	0	0
RAD1	5810	broad.mit.edu	37	5	34913671	34913671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:34913671G>A	ENST00000382038.2	-	3	1630	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	RAD1_ENST00000341754.4_Nonsense_Mutation_p.Q71*	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	71					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTAAACTCCTGAAATATTCCA	0.279000								Other conserved DNA damage response genes					8	25					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524587	37524587	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:37524587C>T	ENST00000216223.5	-	10	1403	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	402					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGGAAGACCCTGTGGGTGC	0.627000													25	70					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91662738	91662738	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:91662738C>T	ENST00000518868.1	+	13	1905	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	C14orf159_ENST00000521077.2_Silent_p.I405I|C14orf159_ENST00000520328.1_Silent_p.I388I|C14orf159_ENST00000525393.2_Silent_p.I276I|C14orf159_ENST00000523816.1_Silent_p.I400I|C14orf159_ENST00000428926.2_Silent_p.I400I|C14orf159_ENST00000412671.2_Silent_p.I405I|C14orf159_ENST00000523771.1_Silent_p.I400I|C14orf159_ENST00000522322.1_Silent_p.I400I|C14orf159_ENST00000256324.10_Silent_p.I405I			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	400						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		AGACGCAGATCCCGATATTAA	0.478000													6	31					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164785182	164785182	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:164785182A>G	ENST00000264382.3	-	6	643	c.581T>C	c.(580-582)gTt>gCt	p.V194A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	194	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTTTGGGCAACCTTCACATC	0.308000										HNSCC(35;0.089)			13	46					0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90332736	90332736	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:90332736G>A	ENST00000371947.3	-	4	1789	c.450C>T	c.(448-450)tcC>tcT	p.S150S	RNLS_ENST00000437752.1_Silent_p.S67S|RNLS_ENST00000331772.4_Silent_p.S150S|RNLS_ENST00000466945.1_Intron	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	150						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						ACTGCTCAGGGGAGCCTGTTT	0.443000													26	64					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784212	140784212	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140784212C>T	ENST00000573521.1	+	1	1693	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCTGTACCCTGCCCTCCC	0.562000													33	179					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976926	119976926	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:119976926C>T	ENST00000313400.4	-	3	826	c.726G>A	c.(724-726)aaG>aaA	p.K242K	ASTN2_ENST00000373996.3_Silent_p.K242K|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.K242K			O75129	ASTN2_HUMAN	astrotactin 2	242						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGCTTGCGCTCTTCTGGGGGA	0.642000													16	33					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232143165	232143165	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:232143165C>T	ENST00000349938.4	+	16	1739	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	515							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCCATGAAAACCATGAGGTAC	0.552000													18	77					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70184524	70184524	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:70184524C>T	ENST00000253925.7	+	13	1751	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	PPFIA1_ENST00000389547.3_Silent_p.D512D|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	512					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTGAACTAGACCACATGAGAC	0.428000													22	45					0	0	1	0	0
C3orf35	339883	broad.mit.edu	37	3	37458885	37458885	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:37458885G>A	ENST00000328376.5	+	5	1107	c.128G>A	c.(127-129)gGa>gAa	p.G43E	C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425564.2_Missense_Mutation_p.G43E|C3orf35_ENST00000426078.1_Missense_Mutation_p.G43E|C3orf35_ENST00000452017.2_Missense_Mutation_p.G43E|C3orf35_ENST00000425932.1_Missense_Mutation_p.G43E	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	43						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTAACACATGGAATAATAAAC	0.458000													18	91					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832378	39832378	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:39832378G>A	ENST00000309060.3	-	4	1594	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.T393T|ZHX3_ENST00000432768.2_Silent_p.T393T|ZHX3_ENST00000540170.1_Silent_p.T393T|ZHX3_ENST00000560361.1_Silent_p.T393T|ZHX3_ENST00000559234.1_Silent_p.T393T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	393	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGACGAGTGGGGTATTTAGAA	0.562000													14	69					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109931906	109931906	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:109931906G>A	ENST00000218054.4	-	9	1097	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	CHRDL1_ENST00000444321.2_Missense_Mutation_p.H301Y|CHRDL1_ENST00000482160.1_Missense_Mutation_p.H222Y|CHRDL1_ENST00000394797.4_Missense_Mutation_p.H301Y|CHRDL1_ENST00000372042.1_Missense_Mutation_p.H302Y|CHRDL1_ENST00000434224.1_Missense_Mutation_p.H222Y|CHRDL1_ENST00000372045.1_Missense_Mutation_p.H295Y	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	295	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTGGGGCAGTGGATTTTCTTA	0.478000													34	56					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107420172	107420172	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:107420172C>T	ENST00000340010.5	-	12	1532	c.1348G>A	c.(1348-1350)Gga>Aga	p.G450R	SLC26A3_ENST00000422236.2_Missense_Mutation_p.G415R	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	450					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATCAGCATTCCCTTTAAGTTT	0.383000													17	43					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82095970	82095970	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:82095970C>T	ENST00000395578.1	-	3	721	c.605G>A	c.(604-606)gGa>gAa	p.G202E	PRKG2_ENST00000418486.2_Missense_Mutation_p.G202E|PRKG2_ENST00000264399.1_Missense_Mutation_p.G202E|RP11-100N20.1_ENST00000512502.1_RNA|RP11-100N20.1_ENST00000505175.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	202					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.G202E(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GATATGGTTTCCTGGTTCTCC	0.368000													27	71					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188245205	188245205	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:188245205C>T	ENST00000409998.1	-	8	1178	c.397G>A	c.(397-399)Gag>Aag	p.E133K	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.E133K|CALCRL_ENST00000392370.3_Missense_Mutation_p.E133K			Q16602	CALRL_HUMAN	calcitonin receptor-like	133						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTCACTTTCTCGTGGGTGTTA	0.338000													26	56					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35776457	35776457	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:35776457G>A	ENST00000440995.2	+	29	4162	c.4162G>A	c.(4162-4164)Gaa>Aaa	p.E1388K	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.E1393K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1393					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAACTCATGGAAAAATGGCT	0.343000													26	88					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30664424	30664424	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:30664424G>A	ENST00000542965.2	+	4	960	c.504_splice	c.e4+1	p.E168_splice	PRR14_ENST00000300835.4_Splice_Site_p.E168_splice			Q9BWN1	PRR14_HUMAN	proline rich 14	168	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCCCCGCTGAGGTATGGGAAC	0.607000													10	19					0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102196011	102196011	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:102196011C>T	ENST00000263464.3	+	2	3521	c.771C>T	c.(769-771)gcC>gcT	p.A257A	BIRC3_ENST00000532808.1_Silent_p.A257A	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	257					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CACATGCAGCCCGCTTTAAAA	0.408000			T	MALT1	MALT								8	53					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16217018	16217018	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:16217018C>T	ENST00000339732.5	+	1	863	c.360C>T	c.(358-360)atC>atT	p.I120I	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Silent_p.I120I	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		ACCGCCTCATCAAGCAGCCAA	0.617000													7	34					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69245468	69245468	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:69245468A>T	ENST00000542259.1	-	15	1461	c.1010T>A	c.(1009-1011)cTg>cAg	p.L337Q	FRMD4B_ENST00000478263.1_Missense_Mutation_p.L43Q|FRMD4B_ENST00000398540.3_Missense_Mutation_p.L391Q			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	391	FERM.					cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CAGTGTCACCAGCTTGGAGGC	0.438000													41	164					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230493007	230493007	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:230493007G>A	ENST00000321327.2	-	4	481	c.482C>T	c.(481-483)cCa>cTa	p.P161L	PGBD5_ENST00000525115.1_Missense_Mutation_p.P62L|PGBD5_ENST00000391860.1_Missense_Mutation_p.P16L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	62						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GACGTTGTCTGGGACAAAGAG	0.582000													37	57					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3225270	3225270	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:3225270G>A	ENST00000355072.5	+	55	7753	c.7608G>A	c.(7606-7608)ctG>ctA	p.L2536L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2536					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACAAGCCTCTGAAAGCTCTCG	0.597000													10	43					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40715072	40715072	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:40715072G>A	ENST00000253055.3	+	6	1786	c.1498G>A	c.(1498-1500)Ggg>Agg	p.G500R		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	500					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGGATCCGATGGGGCCAGCCC	0.552000													27	105					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115925	145115925	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:145115925G>A	ENST00000453618.1	+	0	1011							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GGAGAACCTAGAACCCAGTAG	0.398000													6	127					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47894815	47894815	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:47894815G>A	ENST00000426837.2	-	20	6811	c.6724C>T	c.(6724-6726)Ctg>Ttg	p.L2242L	MAP4_ENST00000420772.2_Intron|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Silent_p.L756L|MAP4_ENST00000360240.6_Silent_p.L1097L|MAP4_ENST00000264724.11_Silent_p.L832L			P27816	MAP4_HUMAN	microtubule-associated protein 4	1097					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCCGGACACAGAGGAGCCTCG	0.672000													4	22					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74649138	74649138	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:74649138C>T	ENST00000253159.8	+	26	4813	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ZNF236_ENST00000320610.9_Missense_Mutation_p.P1541S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1539					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGGAAGCCTTCCTTCAACAAC	0.537000													25	53					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2413898	2413898	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:2413898C>T	ENST00000332578.3	+	9	1353	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	451					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCCCTGCCGCCCCCAGCA	0.657000													5	29					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52946569	52946569	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:52946569G>A	ENST00000267119.5	-	1	362	c.293C>T	c.(292-294)cCa>cTa	p.P98L		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	98	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCCTCCAGGTGGGCATACAGT	0.627000													16	69					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84070350	84070350	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:84070350G>A	ENST00000299709.3	-	2	344	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	115					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGCCACGGAGATCATGAGCA	0.622000													9	41					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963897	73963897	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:73963897C>T	ENST00000373468.1	-	3	1146	c.495G>A	c.(493-495)ctG>ctA	p.L165L	KIAA2022_ENST00000055682.5_Silent_p.L165L			Q5QGS0	K2022_HUMAN	KIAA2022	165					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CACCAACTTTCAGACTGATCC	0.453000													21	20					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256871	240256871	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:240256871G>A	ENST00000319653.9	+	1	1692	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	488					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTGGACGGAGGAGCTAGGCGC	0.766000													4	12					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867604	29867604	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:29867604G>A	ENST00000399218.4	-	4	1011	c.956C>T	c.(955-957)cCc>cTc	p.P319L	GAREM_ENST00000269209.6_Missense_Mutation_p.P319L|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CAGGGTTTCGGGCCAGCTCTC	0.532000													17	39					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75471618	75471618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:75471618G>A	ENST00000427180.1	+	1	294	c.18G>A	c.(16-18)tgG>tgA	p.W6*	SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000592951.1_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	0					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CAAGTTTCTGGGAAGGCCTGC	0.617000													8	26					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501756	28501756	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:28501756T>A	ENST00000412168.2	+	5	567	c.478T>A	c.(478-480)Tct>Act	p.S160T	GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	160					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TCCTCATCCCTCTGAGATTTT	0.448000													38	164					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97984040	97984040	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:97984040G>A	ENST00000383696.2	+	1	953	c.912G>A	c.(910-912)atG>atA	p.M304I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TAAATCCCATGATCTACAGCC	0.358000													10	46					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54974109	54974109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:54974109G>A	ENST00000333834.4	-	1	785	c.667C>T	c.(667-669)Cag>Tag	p.Q223*		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	223					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCTGGTTCCTGGTGCCCTGTG	0.697000													23	31					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052378	90052378	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:90052378G>A	ENST00000405460.2	+	56	11784	c.11688G>A	c.(11686-11688)atG>atA	p.M3896I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3896					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGCCCGGAATGGAAATAGCTG	0.408000													14	52					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:146829338G>A	ENST00000361727.3	+	8	1601	c.1083_splice	c.e8-1	p.G362_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)			13	70					0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36106191	36106191	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:36106191G>A	ENST00000211287.4	+	9	994	c.732G>A	c.(730-732)acG>acA	p.T244T	MAPK13_ENST00000373761.6_Silent_p.T234T|MAPK13_ENST00000373759.1_Intron|MAPK13_ENST00000373766.5_Intron	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	244	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TGCCTGGCACGGAGTTTGTGC	0.607000													10	39					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365152	13365152	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:13365152G>A	ENST00000379287.3	-	2	1660	c.996C>T	c.(994-996)acC>acT	p.T332T	GFOD1_ENST00000379284.1_Silent_p.T229T	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	332						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGGCGGCCATGGTGAGGGGCC	0.652000													16	77					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52387649	52387649	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:52387649C>T	ENST00000356297.4	-	7	677	c.577G>A	c.(577-579)Gag>Aag	p.E193K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E193K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	193	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTAAAAGCTCCCCCAGCCAC	0.522000													7	33					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903827	4903827	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:4903827G>A	ENST00000380378.1	+	1	779	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R233Q|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R233Q(1)|p.R260Q(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGTGGCCCGAAAGAAGCAA	0.478000													17	36					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92569765	92569765	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:92569765G>A	ENST00000298047.6	+	15	10137	c.10120G>A	c.(10120-10122)Gga>Aga	p.G3374R	FAT3_ENST00000409404.2_Missense_Mutation_p.G3374R|FAT3_ENST00000525166.1_Missense_Mutation_p.G3224R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3374	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGCCCAACGGACAGATTCA	0.408000										TCGA Ovarian(4;0.039)			13	69					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87741977	87741977	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:87741977C>T	ENST00000270583.5	-	11	1601	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.E458K|KLHDC4_ENST00000347925.5_Missense_Mutation_p.E484K	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	515										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCACCGCTCTCCTCTCCGCTG	0.617000													13	62					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90491189	90491189	+	Silent	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:90491189T>C	ENST00000369393.3	-	10	1687	c.1572A>G	c.(1570-1572)gcA>gcG	p.A524A	MDN1_ENST00000428876.1_Silent_p.A524A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	524					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTTCTTCAGGTGCCTGTTCAC	0.408000													25	72					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248757031	248757031	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:248757031G>A	ENST00000330500.2	-	1	69	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCCAACAGGAAAAAGTCAC	0.448000													9	41					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333957	11333957	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:11333957C>T	ENST00000376810.5	+	1	695	c.369C>T	c.(367-369)gaC>gaT	p.D123D	UBIAD1_ENST00000376804.2_Silent_p.D123D	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	123					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CACTTGTGGACCGAATCTTGG	0.542000													19	45					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6965272	6965272	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:6965272C>T	ENST00000229268.8	+	4	448	c.396C>T	c.(394-396)gcC>gcT	p.A132A	USP5_ENST00000389231.5_Silent_p.A132A	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	132					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGGAGATTGCCCGGGATGGAC	0.512000													31	122					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106453086	106453086	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:106453086G>A	ENST00000390594.2	-	0	84																											CCAAGAAGAGGATCCTCCAGG	0.542000													6	36					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865714	57865714	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:57865714C>T	ENST00000228682.2	+	12	3282	c.3191C>T	c.(3190-3192)tCc>tTc	p.S1064F	GLI1_ENST00000546141.1_Missense_Mutation_p.S1023F|GLI1_ENST00000543426.1_Missense_Mutation_p.S936F	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1064					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTCCTCCTTCCCATGATCAG	0.577000													39	152					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129764135	129764135	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:129764135C>T	ENST00000226319.6	+	3	360	c.80C>T	c.(79-81)tCc>tTc	p.S27F	PHF17_ENST00000413543.2_Missense_Mutation_p.S27F|PHF17_ENST00000512960.1_Missense_Mutation_p.S27F|PHF17_ENST00000511647.1_Missense_Mutation_p.S27F|PHF17_ENST00000452328.2_Missense_Mutation_p.S27F	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		27					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCCCAGAATTCCCGATCCCAG	0.448000													13	60					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371788	240371788	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:240371788C>T	ENST00000319653.9	+	5	3906	c.3676C>T	c.(3676-3678)Cct>Tct	p.P1226S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1226	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCCCACTCCCTCCACCTGG	0.622000													3	20					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464290	247464290	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:247464290T>C	ENST00000294753.4	-	9	1759	c.1295A>G	c.(1294-1296)gAg>gGg	p.E432G	ZNF496_ENST00000366498.2_Missense_Mutation_p.E468G|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	432					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GTGCGGCTTCTCCTGCTCCCT	0.617000													16	103					0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66792663	66792663	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:66792663G>A	ENST00000307961.6	-	8	977	c.885C>T	c.(883-885)agC>agT	p.S295S	RPL4_ENST00000568588.1_Silent_p.S201S	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	295					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GGATCTCTGGGCTTTTCAAGA	0.383000													10	56					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558153	140558153	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140558153C>T	ENST00000239444.2	+	1	783	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		180	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R180W(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTATTTTCGGGTCCTCAC	0.493000													15	123					0	0	1	0	0
REG4	83998	broad.mit.edu	37	1	120345646	120345646	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:120345646C>T	ENST00000369401.4	-	3	475	c.210G>A	c.(208-210)aaG>aaA	p.K70K	REG4_ENST00000256585.5_Intron|REG4_ENST00000530654.1_Intron|REG4_ENST00000354219.1_Intron	NM_001159353.1	NP_001152825.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	0	C-type lectin.					extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CTGGCTGGTCCTTTGCTCTAG	0.507000													8	11					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729055	196729055	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:196729055G>A	ENST00000312428.6	-	41	7424	c.7324C>T	c.(7324-7326)Cgc>Tgc	p.R2442C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2442	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2442G(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCCGCTGGCGATCTAACTGA	0.448000													18	58					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54793035	54793035	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:54793035C>T	ENST00000545554.1	+	21	5160	c.5160C>T	c.(5158-5160)ttC>ttT	p.F1720F	UNC13C_ENST00000260323.11_Silent_p.F1720F|UNC13C_ENST00000537900.1_Silent_p.F1718F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1720	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCCCACAGTTCCAGCAGACAT	0.443000													9	33					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	17035682	17035682	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:17035682C>T	ENST00000355661.3	-	2	163	c.153G>A	c.(151-153)atG>atA	p.M51I	PLEKHA7_ENST00000532079.1_Intron|OR7E14P_ENST00000530490.1_RNA|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.M51I|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.M51I			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	51					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTGAGCGGATCATGTGGCCCG	0.726000													5	17					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574594	169574594	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:169574594C>T	ENST00000316428.5	-	4	611	c.554G>A	c.(553-555)gGa>gAa	p.G185E	LRRC31_ENST00000523069.1_Missense_Mutation_p.G185E|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.G129E	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	185								p.G185V(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AGGCAAATTTCCTCCCACTTT	0.418000													19	83					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21938871	21938871	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:21938871C>T	ENST00000358242.3	+	16	1608	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	DMTN_ENST00000415253.1_Missense_Mutation_p.S350F|DMTN_ENST00000517600.1_Missense_Mutation_p.S332F|DMTN_ENST00000523782.2_Missense_Mutation_p.S325F|DMTN_ENST00000519907.1_Missense_Mutation_p.S350F|DMTN_ENST00000265800.5_Missense_Mutation_p.S372F|DMTN_ENST00000381470.3_Missense_Mutation_p.S350F|DMTN_ENST00000523266.1_Missense_Mutation_p.S372F|DMTN_ENST00000432128.1_Missense_Mutation_p.S372F|DMTN_ENST00000443491.2_Missense_Mutation_p.S325F					dematin actin binding protein																		AGGCATCTGTCTGCCGAGGAC	0.577000													16	76					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333958	11333958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:11333958C>T	ENST00000376810.5	+	1	696	c.370C>T	c.(370-372)Cga>Tga	p.R124*	UBIAD1_ENST00000376804.2_Nonsense_Mutation_p.R124*	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	124					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ACTTGTGGACCGAATCTTGGA	0.537000													19	44					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669055	53669055	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:53669055C>T	ENST00000600412.1	-	2	608	c.493G>A	c.(493-495)Gga>Aga	p.G165R	ZNF665_ENST00000396424.3_Missense_Mutation_p.G230R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGTTTTTCTCCAGTATGGATG	0.393000													35	50					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69325614	69325614	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:69325614C>T	ENST00000260364.5	+	6	1099	c.798C>T	c.(796-798)atC>atT	p.I266I	NOX5_ENST00000530406.2_Silent_p.I256I|NOX5_ENST00000448182.3_Silent_p.I238I|NOX5_ENST00000455873.3_Silent_p.I249I|NOX5_ENST00000388866.3_Silent_p.I284I			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	284					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCAGCTTCATCGCGGTAGGCT	0.637000													5	17					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520456	176520456	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:176520456G>A	ENST00000292408.4	+	10	1546	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	FGFR4_ENST00000502906.1_Missense_Mutation_p.R434Q|FGFR4_ENST00000393648.2_Missense_Mutation_p.E383K|FGFR4_ENST00000292410.3_Missense_Mutation_p.R394Q|FGFR4_ENST00000393637.1_Missense_Mutation_p.R394Q	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	434					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.R394Q(1)|p.R434Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TCCCTGGTACGAGGCGTGCGT	0.617000										TSP Lung(9;0.080)			32	145					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224911	45224911	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:45224911G>A	ENST00000279027.4	-	5	697	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	SLC13A3_ENST00000396360.1_Missense_Mutation_p.R180C|SLC13A3_ENST00000372121.1_Silent_p.I204I|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R180C|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R180C|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R180C|SLC13A3_ENST00000413164.2_Silent_p.I204I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	227						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATGTTCCGACGATATTCATCC	0.542000													29	114					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72539108	72539108	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:72539108G>A	ENST00000330793.1	-	3	779	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	140	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CTGGGGGCTGGAGGCTGTGGT	0.602000													22	77					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158817575	158817575	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:158817575G>A	ENST00000368141.4	+	6	1306	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	349	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGGATCCATGGATGTAGTGGG	0.398000													56	88					0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86575269	86575269	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:86575269G>A	ENST00000379010.2	-	1	457	c.458C>T	c.(457-459)gCg>gTg	p.A153V		NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1	153						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						TTGGGGCTCCGCCTGGATGTC	0.652000													4	22					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49797753	49797753	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:49797753C>T	ENST00000454748.3	-	8	1488	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	SLC6A16_ENST00000335875.4_Silent_p.K429K			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	429						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGACAGGGGGCTTGGCATCAG	0.502000													28	56					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9094734	9094734	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:9094734C>T	ENST00000383836.3	-	9	1727	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	SRGAP3_ENST00000360413.3_Missense_Mutation_p.E434K|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	434					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATTTCTGTTTCCTGCTGGTTG	0.512000			T	RAF1	pilocytic astrocytoma								17	62					0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5922267	5922267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:5922267G>A	ENST00000380094.5	-	6	1465	c.922C>T	c.(922-924)Cga>Tga	p.R308*	ANKRD16_ENST00000191063.8_Intron|ANKRD16_ENST00000380092.4_Nonsense_Mutation_p.R308*	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	308								p.R308*(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GTACCTGATCGATTTTTTTCA	0.294000													7	11					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55441955	55441955	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:55441955G>A	ENST00000588756.1	-	11	3208	c.2722C>T	c.(2722-2724)Ctg>Ttg	p.L908L	NLRP7_ENST00000592784.1_Silent_p.L908L|NLRP7_ENST00000590030.1_Silent_p.L908L|NLRP7_ENST00000448121.2_Silent_p.L880L|NLRP7_ENST00000446217.1_Silent_p.L936L|NLRP7_ENST00000340844.2_Silent_p.L908L|NLRP7_ENST00000328092.5_Silent_p.L880L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	908							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCAAGTCCAGGTTTGTGAGG	0.458000													41	69					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327544	67327544	+	Silent	SNP	C	C	T	rs143567769		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:67327544C>T	ENST00000304372.5	-	12	2176	c.2121G>A	c.(2119-2121)gcG>gcA	p.A707A		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	707						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A707A(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGTCTTTCGCTCCAGCTC	0.602000													34	115					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116918271	116918271	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:116918271C>T	ENST00000265441.3	-	5	1320	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	341					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCCAGAGCTTCCAGGCAGTCC	0.597000													16	92					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307109	162307109	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:162307109C>T	ENST00000306100.5	-	16	2770	c.2334G>A	c.(2332-2334)atG>atA	p.M778I	FSTL5_ENST00000427802.2_Missense_Mutation_p.M768I|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.M777I|FSTL5_ENST00000379164.4_Missense_Mutation_p.M777I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	778						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GACTCTTTATCATCTTGACCT	0.453000													30	110					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150696117	150696117	+	Silent	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:150696117A>G	ENST00000297494.3	+	8	1257	c.900A>G	c.(898-900)ccA>ccG	p.P300P	NOS3_ENST00000484524.1_Silent_p.P300P|NOS3_ENST00000467517.1_Silent_p.P300P|NOS3_ENST00000461406.1_Silent_p.P94P	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	300	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ATGATCCCCCAGAACTCTTCC	0.652000													38	262					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164790855	164790855	+	Missense_Mutation	SNP	G	G	A	rs146653553		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:164790855G>A	ENST00000420696.2	+	8	1380	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S	PBX1_ENST00000540236.1_Missense_Mutation_p.G398S|PBX1_ENST00000559240.1_Missense_Mutation_p.G307S|PBX1_ENST00000560641.1_Missense_Mutation_p.G293S|PBX1_ENST00000540246.1_Missense_Mutation_p.G293S|PBX1_ENST00000367897.1_3'UTR	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	398					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CAGTCCGCAGGGCATCAGTGT	0.468000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								20	35					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174302	207174302	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:207174302C>T	ENST00000374423.3	+	5	5436	c.5050C>T	c.(5050-5052)Cac>Tac	p.H1684Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1684							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCAGAAAGCTCACAAAGAAGC	0.423000													9	67					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066273	23066273	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:23066273C>T	ENST00000246006.4	-	1	704	c.557G>A	c.(556-558)gGc>gAc	p.G186D		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	186				G -> A (in Ref. 1; AA sequence).	cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCGGCACATGCCTTTGAAGCT	0.642000													20	83					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73239173	73239173	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:73239173G>A	ENST00000245541.6	-	6	715	c.499C>T	c.(499-501)Cct>Tct	p.P167S	GGA3_ENST00000582486.1_Missense_Mutation_p.P95S|GGA3_ENST00000582717.1_Missense_Mutation_p.P95S|GGA3_ENST00000538886.1_Missense_Mutation_p.P45S|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000351904.7_Missense_Mutation_p.P134S|GGA3_ENST00000578348.1_Missense_Mutation_p.P45S	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	167	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCAAAAACAGGGTTTTTGGGA	0.542000													22	94					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179517255	179517255	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179517255C>T	ENST00000589042.1	-	202	39281	c.39057G>A	c.(39055-39057)ccG>ccA	p.P13019P	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P11512P|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.P10585P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11373	Ig-like 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTTCTTTCGGAGCCTCTG	0.373000													28	135					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185138934	185138934	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:185138934G>A	ENST00000296741.2	-	1	180	c.39C>T	c.(37-39)gcC>gcT	p.A13A		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	13					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CCAGGCCCAGGGCAAGGGCCA	0.632000													12	25					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170058237	170058237	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:170058237C>T	ENST00000263816.3	-	44	8638	c.8353G>A	c.(8353-8355)Gag>Aag	p.E2785K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2785	LDL-receptor class A 18.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACATAAACTCCGTGGTGGCA	0.463000													10	48					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124096405	124096405	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:124096405C>T	ENST00000287380.1	+	4	434	c.344C>T	c.(343-345)aCc>aTc	p.T115I	TBC1D31_ENST00000378080.2_Missense_Mutation_p.T10I|TBC1D31_ENST00000309336.3_Missense_Mutation_p.T115I|TBC1D31_ENST00000521676.1_Missense_Mutation_p.T10I|TBC1D31_ENST00000327098.5_Missense_Mutation_p.T115I|TBC1D31_ENST00000522420.1_Missense_Mutation_p.T10I	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		ACCACAGTCACCAAGGAGCTA	0.393000													32	104					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													4	59					0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43161961	43161961	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:43161961C>T	ENST00000509634.1	+	5	1336	c.880C>T	c.(880-882)Cat>Tat	p.H294Y	ZNF131_ENST00000399534.1_Missense_Mutation_p.H328Y|ZNF131_ENST00000505606.2_Missense_Mutation_p.H294Y|ZNF131_ENST00000306938.4_Missense_Mutation_p.H294Y|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.H328Y			P52739	ZN131_HUMAN	zinc finger protein 131	328						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAAAAAATTCATGTATGTCA	0.353000													11	39					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010799	78010799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:78010799C>T	ENST00000435339.2	+	2	838	c.433C>T	c.(433-435)Cga>Tga	p.R145*	LPAR4_ENST00000373301.2_Nonsense_Mutation_p.R145*	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTATCCTTTTCGATCTCGTAC	0.463000													18	35					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28752264	28752264	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:28752264G>A	ENST00000422425.2	+	7	450	c.406G>A	c.(406-408)Gat>Aat	p.D136N	PLB1_ENST00000327757.5_Missense_Mutation_p.D136N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	136	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CATACCCCACGATGGTGCTGA	0.468000													4	59					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81380709	81380709	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:81380709C>T	ENST00000555265.1	-	4	566	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	CEP128_ENST00000216517.6_Missense_Mutation_p.R64Q|CEP128_ENST00000281129.3_Missense_Mutation_p.R64Q|CEP128_ENST00000327841.2_Missense_Mutation_p.R4Q			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	64						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTCGGTATCGTCCAAGCAT	0.403000													17	60					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231108486	231108486	+	Silent	SNP	G	G	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:231108486G>T	ENST00000392045.3	+	5	645	c.531G>T	c.(529-531)gtG>gtT	p.V177V	SP140_ENST00000486687.2_Silent_p.V177V|SP140_ENST00000343805.6_Silent_p.V177V|SP140_ENST00000417495.3_Silent_p.V177V|SP140_ENST00000420434.3_Silent_p.V177V|SP140_ENST00000350136.5_Silent_p.V157V	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	177					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATATAGCAGTGCCTCAGGAAG	0.488000													18	61					1.9806e-07	1.99411e-07	1	1	0
RAD18	56852	broad.mit.edu	37	3	8983349	8983349	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:8983349A>T	ENST00000264926.2	-	5	522	c.406T>A	c.(406-408)Ttc>Atc	p.F136I	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	136					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTGATCAAGAAATTATCCATT	0.408000								Rad6 pathway					16	94					0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38446274	38446274	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:38446274G>A	ENST00000373019.4	-	8	1629	c.674C>T	c.(673-675)aCc>aTc	p.T225I	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.T172I	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	225					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAGGAAAGGTCCCATTCTC	0.443000													10	58					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130191122	130191122	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:130191122C>T	ENST00000342483.5	+	2	434	c.28C>T	c.(28-30)Cca>Tca	p.P10S	ZNF79_ENST00000543471.1_5'UTR	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						ACTGCCTTCCCCAGGCCCTGC	0.478000													5	12					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874108	48874108	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:48874108G>A	ENST00000394754.1	+	8	3131	c.3017G>A	c.(3016-3018)aGg>aAg	p.R1006K	LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R1006K|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.R302K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R1006K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R959K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R1006K|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.R268K	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		959					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTAAAAATAGGATGTATGGA	0.433000													11	35					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169555273	169555273	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:169555273G>A	ENST00000340806.6	+	5	1537	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	513	IQ.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCAGATTCAGGCATGGTGGCG	0.388000													3	18					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748530	43748530	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:43748530G>A	ENST00000263801.3	-	12	2513	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	TP53BP1_ENST00000382039.3_Missense_Mutation_p.S759F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S759F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S759F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	754					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GACAACACTGGAGTCCTCTGA	0.443000								Other conserved DNA damage response genes					21	73					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1466297	1466297	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:1466297T>A	ENST00000535453.1	+	14	4710	c.2997T>A	c.(2995-2997)taT>taA	p.Y999*	APC2_ENST00000238483.4_Nonsense_Mutation_p.Y725*|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Nonsense_Mutation_p.Y999*			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	999					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTACCTATCAGCACGTGC	0.726000													8	14					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952866	54952866	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:54952866C>T	ENST00000273286.5	-	3	820	c.658G>A	c.(658-660)Gac>Aac	p.D220N	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.D144N|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	220	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTAAGGAGGTCCTTTCCCTTC	0.522000													11	22					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584266	88584266	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:88584266G>A	ENST00000339673.6	+	6	1435	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.E430K	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	446					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TCAGAGCGAGGAAAGCCATTC	0.542000													15	38					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38911187	38911187	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:38911187C>T	ENST00000312150.4	-	1	397	c.337G>A	c.(337-339)Ggc>Agc	p.G113S		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	113	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCATACCAGCCCTTGATCTTC	0.488000													23	104					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122756648	122756648	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:122756648G>A	ENST00000245838.8	-	30	3777	c.3746C>T	c.(3745-3747)cCt>cTt	p.P1249L	THOC2_ENST00000491737.1_Missense_Mutation_p.P1134L|THOC2_ENST00000355725.4_Missense_Mutation_p.P1249L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1249					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATTCCCTTTAGGTGTGGTACT	0.338000													15	15					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47863846	47863846	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:47863846G>A	ENST00000396105.1	-	14	5961	c.5715C>T	c.(5713-5715)gcC>gcT	p.A1905A	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.A1905A	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1905							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAGGTTGTTGGCCGTGTCAG	0.522000													21	79					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635748	73635748	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:73635748C>T	ENST00000261917.3	-	2	2180	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	396					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGAATATATCGAATGAGGCG	0.572000													13	32					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220820	20220820	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:20220820A>T	ENST00000361479.5	+	3	675	c.607A>T	c.(607-609)Att>Ttt	p.I203F	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.I203F	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	203	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)		AAAGAAAAGAATTTCTGAAGC	0.343000													8	13					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230273	36230273	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:36230273G>A	ENST00000303965.4	-	2	1325	c.836C>T	c.(835-837)tCt>tTt	p.S279F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	279					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAAAGATCGAGATGGTCTTGA	0.388000													16	58					0	0	1	0	0
ODF3L1	161753	broad.mit.edu	37	15	76019449	76019449	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:76019449C>T	ENST00000332145.2	+	4	616	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	131										kidney(1)|lung(1)	2						AGAAGATCCACCCACCGGGGG	0.617000													50	240					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103128688	103128688	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:103128688C>T	ENST00000295269.4	+	7	1972	c.1515C>T	c.(1513-1515)atC>atT	p.I505I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	505					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGCTGGAATCGAAGATGTGT	0.463000													22	98					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21115400	21115400	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:21115400C>T	ENST00000377122.4	-	18	2241	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	615					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTGATTTTTCTTCACTCGTT	0.313000													28	140					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:152287816C>T	ENST00000368799.1	-	2	152	c.117G>A	c.(115-117)aaG>aaA	p.K39K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	39	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328000									Ichthyosis				26	139					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685429	248685429	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:248685429C>T	ENST00000343414.4	+	1	514	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCAGTGCTCCCTCACTGTG	0.567000													8	45					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127253538	127253538	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:127253538G>C	ENST00000341640.2	-	5	792	c.587C>G	c.(586-588)gCt>gGt	p.A196G	PAX4_ENST00000338516.3_Missense_Mutation_p.A204G|PAX4_ENST00000378740.2_Missense_Mutation_p.A196G|PAX4_ENST00000463946.1_Missense_Mutation_p.A194G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	204					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTGGCAGTAGCCAGCTTTCC	0.587000													28	76					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732105	119732105	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:119732105G>A	ENST00000541757.1	+	7	723	c.343G>A	c.(343-345)Gga>Aga	p.G115R	MARCO_ENST00000327097.4_Missense_Mutation_p.G193R			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	193					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGCCCCTCGGGACCCCAAGG	0.542000													7	26					0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192335065	192335065	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:192335065C>T	ENST00000417209.2	+	5	444	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	90	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.F90F(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ACATTGACTTCGGTACCAGAG	0.308000													18	80					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79745092	79745092	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:79745092C>T	ENST00000372371.3	-	24	3215	c.3078G>A	c.(3076-3078)caG>caA	p.Q1026Q		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1026					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTGGCTCCATCTGTGCCCTAG	0.532000													27	58					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005451	74005451	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:74005451C>T	ENST00000301607.3	-	22	4088	c.3835G>A	c.(3835-3837)Gag>Aag	p.E1279K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1301K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1279	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTGACGAGCTCGTTGAGCTGA	0.667000													37	104					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9610104	9610104	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:9610104G>A	ENST00000310430.6	+	20	3147	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	TNKS_ENST00000518281.1_Missense_Mutation_p.E804K	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1041	SAM.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCTTGGCCTTGAACACCTTCG	0.323000													14	70					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137671962	137671962	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:137671962C>T	ENST00000371817.3	+	28	2814	c.2400C>T	c.(2398-2400)atC>atT	p.I800I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	800	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGATGGCATCCGTGGTCTGA	0.597000													27	71					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71101260	71101260	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:71101260C>T	ENST00000393567.2	-	15	2158	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	HYDIN_ENST00000448089.2_Missense_Mutation_p.E670K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E685K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E670K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E687K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E687K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E697K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E670K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	670										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGCCAGCTCGTATTTCTGC	0.527000													9	49					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136913320	136913320	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:136913320G>A	ENST00000303407.7	-	6	1156	c.971C>T	c.(970-972)tCc>tTc	p.S324F	BRD3_ENST00000371834.2_Missense_Mutation_p.S324F|BRD3_ENST00000357885.2_Missense_Mutation_p.S324F	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	324						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GTGCTTCTTGGATAGCATCTC	0.622000			T	C15orf55	lethal midline carcinoma of young people								4	18					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496597	34496597	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:34496597G>A	ENST00000538621.1	+	4	644	c.399G>A	c.(397-399)aaG>aaA	p.K133K	PACSIN1_ENST00000244458.2_Silent_p.K133K|PACSIN1_ENST00000374043.2_Silent_p.K91K|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	133					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGAGACGAAGGAGGCTGAAG	0.582000													29	100					0	0	1	0	0
FAM131C	348487	broad.mit.edu	37	1	16388595	16388595	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:16388595C>T	ENST00000375662.4	-	4	450	c.268_splice	c.e4+1	p.V89_splice	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	89										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGAACCTACCCACAAGGGACG	0.637000													11	38					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207642192	207642192	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:207642192G>A	ENST00000367057.3	+	4	871	c.682G>A	c.(682-684)Gag>Aag	p.E228K	CR2_ENST00000458541.2_Missense_Mutation_p.E228K|CR2_ENST00000367059.3_Missense_Mutation_p.E228K|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Missense_Mutation_p.E228K	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	228	Sushi 4.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAGGTAAAGGAGCCTCCAAT	0.408000													33	52					0	0	1	0	0
SRI	6717	broad.mit.edu	37	7	87848225	87848225	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:87848225G>A	ENST00000265729.2	-	2	136	c.84C>T	c.(82-84)ccC>ccT	p.P28P	SRI_ENST00000419179.1_Silent_p.P28P|SRI_ENST00000431660.1_Silent_p.P13P|SRI_ENST00000394641.3_Silent_p.P13P|CTB-167B5.1_ENST00000520993.1_RNA|SRI_ENST00000490437.1_Intron	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	28					heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					GAGTTTGTCCGGGAAACGCAG	0.478000													12	47					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078763	22078763	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:22078763G>A	ENST00000382254.1	-	5	1109	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CDH12_ENST00000504376.2_Missense_Mutation_p.S8F|CDH12_ENST00000522262.1_Missense_Mutation_p.S8F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	8					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGAAGCAGGGATAAACAGTT	0.438000										HNSCC(59;0.17)			16	112					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110169022	110169022	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:110169022C>T	ENST00000256578.3	+	5	1026	c.666C>T	c.(664-666)gtC>gtT	p.V222V	AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000342115.4_Silent_p.V141V|AMPD2_ENST00000528667.1_Silent_p.V222V|AMPD2_ENST00000528454.1_Silent_p.V104V|AMPD2_ENST00000393688.3_Silent_p.V103V|AMPD2_ENST00000358729.4_Silent_p.V147V	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	222					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTCAGCGGGTCACCATCTCTG	0.597000													6	24					0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8417167	8417167	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:8417167G>A	ENST00000379660.4	-	9	1384	c.935C>T	c.(934-936)tCc>tTc	p.S312F		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	312					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					CAGAACAAAGGAGATTCCAAA	0.333000													15	72					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31087763	31087763	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:31087763G>A	ENST00000394979.2	+	1	541	c.118G>A	c.(118-120)Gag>Aag	p.E40K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E40K			O15015	ZN646_HUMAN	zinc finger protein 646	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGACAGTGAGGAGGCTGACAG	0.637000													23	102					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17472821	17472821	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:17472821C>T	ENST00000400588.1	-	2	527	c.420G>A	c.(418-420)atG>atA	p.M140I	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	140	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCCACTCATTCATGTCCTCCC	0.517000													53	243					0	0	1	0	0
NMRK2	27231	broad.mit.edu	37	19	3937266	3937266	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:3937266A>T	ENST00000168977.2	+	4	436	c.146A>T	c.(145-147)gAc>gTc	p.D49V	NMRK2_ENST00000599576.1_Missense_Mutation_p.D40V|NMRK2_ENST00000593949.1_Missense_Mutation_p.D54V	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		GTTGGGGAAGACGGCTTCAAA	0.627000													7	26					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158645977	158645977	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:158645977G>A	ENST00000368148.3	-	8	1246	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	SPTA1_ENST00000368147.3_Missense_Mutation_p.R356C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	356					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGGGCACGAATATGCTCC	0.483000													59	118					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729970	41729970	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:41729970C>T	ENST00000242208.4	-	3	805	c.559G>A	c.(559-561)Gac>Aac	p.D187N	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.D187N	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	187					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCCCCTGTGTCCAAGCTGCCC	0.562000										TSP Lung(11;0.080)			29	68					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53208265	53208265	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:53208265G>A	ENST00000262593.5	+	5	870	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	DOK5_ENST00000395939.1_Missense_Mutation_p.V66I	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	174	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GAATCCCAGAGTCAAACTCAT	0.458000													12	53					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73502388	73502388	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:73502388C>G	ENST00000321617.3	-	8	1310	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E160Q|CASKIN2_ENST00000581870.1_Missense_Mutation_p.E242Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	242						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATACCCACCTCCAGAAGCAGC	0.667000													6	33					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89661987	89661987	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:89661987C>T	ENST00000268720.5	+	16	1870	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	CPNE7_ENST00000319518.8_Silent_p.F505F|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	580	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCGTACAGTTCGTGCCCTTCC	0.667000													16	57					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36908515	36908515	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:36908515G>A	ENST00000216190.8	-	13	1711	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	EIF3D_ENST00000541106.1_Silent_p.L398L|EIF3D_ENST00000405442.1_Silent_p.L447L|EIF3D_ENST00000462641.1_5'UTR	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	447						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						ACCCAAGCTTGAGGTACTCAG	0.572000													26	95					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234580994	234580994	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:234580994G>A	ENST00000354728.4	+	1	496	c.414G>A	c.(412-414)aaG>aaA	p.K138K	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		AATACTTAAAGGAGAGTTCTT	0.348000													10	83					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121428098	121428098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:121428098C>T	ENST00000260197.7	+	19	2776	c.2647C>T	c.(2647-2649)Ctc>Ttc	p.L883F		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	883					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGCTCTGGTCCTCGTGCCCCA	0.502000													17	58					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301950	191301950	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:191301950G>A	ENST00000392328.1	+	3	1519	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	MFSD6_ENST00000281416.7_Missense_Mutation_p.D399N	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	399					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TTTCAAAAACGATGATTCTAA	0.512000													10	33					0	0	1	0	0
IGHD6-19	28486	broad.mit.edu	37	14	106357576	106357576	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:106357576C>T	ENST00000390574.1	-	0	1																											ACTGCTATACCCCACTGTGAT	0.567000													4	33					0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666736	116666736	+	Missense_Mutation	SNP	C	C	T	rs141687184	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:116666736C>T	ENST00000369500.3	+	4	504	c.239C>T	c.(238-240)gCc>gTc	p.A80V	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	80										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AAAGGCCTGGCCGGGTACAGG	0.592000													13	88					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949039	45949039	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:45949039C>T	ENST00000531526.1	+	11	1610	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.P227L|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.P500L|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.P469L|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.P500L|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.P469L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	500					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCCCTATACCCCGTCAACCAG	0.597000													25	111					0	0	1	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518618	106518618	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:106518618C>T	ENST00000390598.2	-	0	211																											AAGGTGAATCCAGAGGCTGCA	0.572000													37	123					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79378933	79378933	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:79378933A>G	ENST00000350881.2	+	22	3045	c.2855A>G	c.(2854-2856)cAa>cGa	p.Q952R	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.Q861R|THBS4_ENST00000504720.1_3'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	952					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAAGAGTTTCAAACCCAGAAT	0.483000											OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	99					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068306	9068306	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9068306G>A	ENST00000397910.4	-	3	19343	c.19140C>T	c.(19138-19140)tcC>tcT	p.S6380S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6382	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGTCTGAGGATGAGCCAA	0.473000													16	40					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141131	143141131	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:143141131C>T	ENST00000332690.1	+	1	586	c.586C>T	c.(586-588)Cct>Tct	p.P196S	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	196					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTATCTCTTCCCTCTAAAAAT	0.418000													35	147					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	453640	453640	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:453640C>T	ENST00000512944.1	+	4	709	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	EXOC3_ENST00000315013.5_Missense_Mutation_p.H174Y	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	185					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GACCCTCATCCATGGCTACTT	0.617000													16	48					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20129301	20129301	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:20129301C>T	ENST00000396085.1	+	37	7303	c.6942C>T	c.(6940-6942)ctC>ctT	p.L2314L	NAV2_ENST00000396087.3_Silent_p.L2370L|NAV2_ENST00000533917.1_Silent_p.L1375L|NAV2_ENST00000360655.4_Silent_p.L2247L|NAV2_ENST00000540292.1_Silent_p.L2301L|NAV2_ENST00000349880.4_Silent_p.L2311L|NAV2_ENST00000527559.2_Silent_p.L2299L|NAV2_ENST00000311043.8_Silent_p.L1375L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2370						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCCTATCTCCTGGAAGCCG	0.557000													53	190					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30207592	30207592	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:30207592C>T	ENST00000261708.4	-	11	1104	c.967_splice	c.e11+1	p.E323_splice	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	323					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TGAAGTTCACCTGTTGGCAGA	0.478000													29	106					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													3	33					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121976381	121976381	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:121976381G>A	ENST00000265922.3	-	6	1199	c.738C>T	c.(736-738)gcC>gcT	p.A246A	DBC1_ENST00000373964.2_Silent_p.A246A	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		246	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TATAGCTCAAGGCCGACTGGA	0.488000													11	42					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43230294	43230294	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:43230294G>A	ENST00000263245.5	-	5	650	c.431C>T	c.(430-432)cCt>cTt	p.P144L	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.P100L|ARFGAP3_ENST00000429508.2_Intron	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	144					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTTTGGTGGAGGGGACAAAGG	0.408000													44	170					0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88747755	88747755	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:88747755G>A	ENST00000332281.5	-	2	530	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	148					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		AGCCGCCCGGGGCTCGGGGCA	0.706000													31	88					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130769249	130769249	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:130769249G>A	ENST00000509018.1	-	25	4053	c.3848C>T	c.(3847-3849)tCc>tTc	p.S1283F	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1291F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1291F|FNIP1_ENST00000514667.1_Missense_Mutation_p.S1333F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1296F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1283	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCAGACATGGAGTCAACAGA	0.493000													14	44					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515682	47515682	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:47515682G>A	ENST00000371901.3	+	12	1616	c.1366G>A	c.(1366-1368)Ggg>Agg	p.G456R	CYP4X1_ENST00000538609.1_Missense_Mutation_p.G455R	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	456						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GAACTGCATTGGGCAGGAGTT	0.413000													31	91					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24321470	24321470	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:24321470C>T	ENST00000175238.6	+	4	392	c.309C>T	c.(307-309)atC>atT	p.I103I	ADAM7_ENST00000441335.2_Silent_p.I103I|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.I103I	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	103					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATCCTCAGATCATGGTATCTT	0.423000													15	44					0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735236	31735236	+	Splice_Site	SNP	G	G	A	rs144626850		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:31735236G>A	ENST00000342032.3	+	3	863		c.e3+1		PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17						behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TTCATACCAGGTAATGGACAA	0.428000													23	92					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36490664	36490664	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:36490664C>T	ENST00000342292.4	-	8	1727	c.1707G>A	c.(1705-1707)tcG>tcA	p.S569S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	569						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CATGGAAGGCCGAGAGCACAG	0.642000													4	22					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5789305	5789305	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:5789305G>A	ENST00000328090.5	+	15	4546	c.3921G>A	c.(3919-3921)gaG>gaA	p.E1307E		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1307																	AGCAATTTGAGGAGGCCCCAT	0.443000													48	208					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339057	19339057	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:19339057G>A	ENST00000252575.5	+	8	2671	c.2628G>A	c.(2626-2628)ctG>ctA	p.L876L	NCAN_ENST00000538881.1_Silent_p.L327L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	876					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCACGACCCTGGAGCAGGGGG	0.592000													19	96					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68696517	68696517	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:68696517G>A	ENST00000303145.7	-	12	1941	c.1855C>T	c.(1855-1857)Cca>Tca	p.P619S	MDM1_ENST00000411698.2_Missense_Mutation_p.P584S|MDM1_ENST00000540418.1_Missense_Mutation_p.P339S	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	619						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GGGTATTTTGGAATTTTTGAA	0.458000													24	79					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155630	111155630	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:111155630C>T	ENST00000262839.2	-	3	1707	c.789G>A	c.(787-789)agG>agA	p.R263R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	263					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTCCAGTTCCCTGGAGCTCC	0.522000													47	49					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65617484	65617484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:65617484G>T	ENST00000308342.6	+	3	660	c.235G>T	c.(235-237)Gag>Tag	p.E79*		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	79	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGAGAATGAGGAGTACGCCGG	0.632000													10	31					6.42651e-13	6.52762e-13	1	1	0
ARMC12	221481	broad.mit.edu	37	6	35715112	35715112	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:35715112C>T	ENST00000373866.3	+	4	541	c.519C>T	c.(517-519)ctC>ctT	p.L173L	ARMC12_ENST00000373869.3_Silent_p.L173L|ARMC12_ENST00000288065.2_Silent_p.L200L			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	173							binding										GCCTCAGACTCCTCAACAACC	0.557000													18	84					0	0	1	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494429	106494429	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:106494429G>A	ENST00000390597.2	-	0	82																											CCTTCAAGGTGATCTGGGACA	0.532000													7	33					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108489172	108489172	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:108489172G>A	ENST00000408999.3	+	20	4789	c.4712G>A	c.(4711-4713)gGa>gAa	p.G1571E	RGPD4_ENST00000354986.4_Missense_Mutation_p.G1571E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1571					intracellular transport		binding	p.G1571A(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTTTGTTTGGATTTAGTTTT	0.348000													51	210					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732887	92732887	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:92732887C>T	ENST00000379958.2	-	3	2793	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	842						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCACTTTTTTCAGGATTTTGT	0.358000													10	35					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95108212	95108212	+	RNA	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:95108212T>A	ENST00000469935.1	+	0	817					NR_015340.1																						CCACAGCGGTTCTGGTGAATC	0.562000													40	123					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677759	25677759	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:25677759C>T	ENST00000382051.3	+	13	1511	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	SLC34A2_ENST00000503434.1_Silent_p.I486I|SLC34A2_ENST00000504570.1_Silent_p.I486I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	487					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGTTGCAGATCGCCCTGTGCC	0.602000			T	ROS1	NSCLC								11	28					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49597954	49597954	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:49597954C>T	ENST00000527477.1	+	0	558																											GGACGAAGTTCATGAGAGGAA	0.517000													5	23					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59445711	59445711	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:59445711C>T	ENST00000589222.1	+	23	2517	c.2449C>T	c.(2449-2451)Ctg>Ttg	p.L817L	BCAS3_ENST00000588462.1_Silent_p.L832L|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000408905.3_Silent_p.L817L|BCAS3_ENST00000585744.1_Silent_p.L603L|BCAS3_ENST00000588874.1_Silent_p.L588L|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Silent_p.L817L|BCAS3_ENST00000390652.5_Silent_p.L832L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	832						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAGCGTGACCCTGCTGGAGGT	0.647000													24	113					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61228353	61228353	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:61228353G>A	ENST00000382768.1	+	4	480	c.480G>A	c.(478-480)acG>acA	p.T160T	SERPINB12_ENST00000269491.1_Silent_p.T140T			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	140					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTACCACACGACGATTGAAA	0.383000													22	68					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103866	53103866	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:53103866G>A	ENST00000408890.4	+	1	518	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	168										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						cgccgcccAGGAGCTCCTGGA	0.721000													11	50					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75587134	75587134	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:75587134G>C	ENST00000502798.2	+	7	1668	c.1226G>C	c.(1225-1227)cGg>cCg	p.R409P	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.R409P	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	409					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.R409L(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGTTTTGTTCGGATCCGCACC	0.413000													8	30					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589840	108589840	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:108589840G>A	ENST00000332082.4	+	3	1049	c.231G>A	c.(229-231)cgG>cgA	p.R77R	WSCD2_ENST00000547525.1_Silent_p.R77R|WSCD2_ENST00000261400.3_Silent_p.R77R|WSCD2_ENST00000549903.1_Silent_p.R77R			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	77						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAGGTTTCCGGGACACAGGTG	0.612000													38	181					0	0	1	0	0
ACTR3C	653857	broad.mit.edu	37	7	149992437	149992437	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:149992437C>T	ENST00000539352.1	-	2	201		c.e2-1		ACTR3C_ENST00000252071.4_Splice_Site	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)						regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										GAGGTTCTGTCTGTAAGAAAA	0.353000													15	49					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506719	37506719	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:37506719G>A	ENST00000374660.1	+	39	3468	c.3369G>A	c.(3367-3369)agG>agA	p.R1123R	ANKRD30A_ENST00000361713.1_Silent_p.R1004R|ANKRD30A_ENST00000602533.1_Silent_p.R1004R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAGCATAGGAAAGAGTTAG	0.333000													4	29					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794045	140794045	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140794045C>A	ENST00000398610.2	+	1	1303	c.1303C>A	c.(1303-1305)Cct>Act	p.P435T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGTCCTCCTCTATCAAC	0.448000													30	143					9.65021e-13	9.7924e-13	1	1	0
PCDH9	5101	broad.mit.edu	37	13	66878979	66878979	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:66878979C>T	ENST00000544246.1	-	5	4213	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	PCDH9_ENST00000328454.5_Silent_p.V1140V|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Silent_p.V1140V|PCDH9_ENST00000377865.2_Silent_p.V1174V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1174					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTGCCCATTCACAAGCTTGT	0.498000													23	45					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126128249	126128249	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:126128249G>A	ENST00000373631.3	+	3	473	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	CRB2_ENST00000359999.3_Missense_Mutation_p.G158R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	158	EGF-like 3; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGCCTGCACGGGGGCTCGTG	0.701000													7	13					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73900302	73900302	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:73900302G>A	ENST00000342056.2	+	13	2039	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	KCNQ5_ENST00000355635.3_Missense_Mutation_p.M529I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.M528I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.M418I|KCNQ5_ENST00000370398.1_Missense_Mutation_p.M528I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.M538I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.M519I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	528					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACAGAATTATGAAATTTCATG	0.294000													5	7					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64644345	64644345	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:64644345C>T	ENST00000371079.1	+	9	2996	c.2621C>T	c.(2620-2622)tCa>tTa	p.S874L	ROR1_ENST00000545203.1_Missense_Mutation_p.S325L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	874	Ser/Thr-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTGCCCTCATCAGGATCCAAT	0.502000													6	33					0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87102564	87102564	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:87102564C>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							TTCTATATTTCCAGAAGAAAC	0.383000													13	66					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4856821	4856821	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:4856821G>T	ENST00000302640.8	+	58	8091	c.7741G>T	c.(7741-7743)Gtt>Ttt	p.V2581F	ITPR1_ENST00000357086.4_Missense_Mutation_p.V2548F|ITPR1_ENST00000354582.6_Missense_Mutation_p.V2581F|ITPR1_ENST00000544951.1_Missense_Mutation_p.V559F|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2548F|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.V2533F|ITPR1_ENST00000443694.2_Missense_Mutation_p.V2581F|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000441894.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2596					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GATTTTTGGGGTTATCATTGA	0.448000													25	77					5.45024e-15	5.54143e-15	1	1	0
CD38	952	broad.mit.edu	37	4	15841722	15841722	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:15841722G>A	ENST00000226279.2	+	6	870	c.733G>A	c.(733-735)Ggt>Agt	p.G245S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	245					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GGTGATACATGGTGGAAGAGA	0.423000													26	113					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186335	95186335	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:95186335C>T	ENST00000027335.3	-	6	702	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	CDH17_ENST00000450165.2_Missense_Mutation_p.R193Q|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	193	Cadherin 2.					integral to membrane	calcium ion binding			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)			CTTACCCTCTCGGGTAAGAGA	0.473000													40	124					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380100	147380100	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:147380100C>T	ENST00000240986.4	+	2	71	c.18C>T	c.(16-18)ttC>ttT	p.F6F	GJA8_ENST00000369235.1_Silent_p.F6F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	6					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ACTGGAGTTTCCTGGGGAACA	0.537000													31	170					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874923	39874923	+	Silent	SNP	C	C	T	rs138250796		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:39874923C>T	ENST00000260356.5	+	3	762	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	199	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GACTCCGCATCGCAAAGGGGG	0.562000													8	36					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104897613	104897613	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:104897613G>A	ENST00000507740.1	+	2	446	c.210G>A	c.(208-210)tcG>tcA	p.S70S	RIMS2_ENST00000436393.2_Silent_p.S40S|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Silent_p.S262S|RIMS2_ENST00000262231.10_Silent_p.S70S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	293	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGCTACTTCGGATACCGCAA	0.403000										HNSCC(12;0.0054)			14	58					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212483982	212483982	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:212483982C>T	ENST00000342788.4	-	19	2531	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R	ERBB4_ENST00000402597.1_Missense_Mutation_p.G731R|ERBB4_ENST00000436443.1_Missense_Mutation_p.G741R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	741	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAGTTTCTCCTTCAGGTACC	0.363000										TSP Lung(8;0.080)			7	57					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100425195	100425195	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:100425195G>A	ENST00000376355.3	+	2	211	c.180G>A	c.(178-180)aaG>aaA	p.K60K	CLYBL_ENST00000339105.4_Silent_p.K60K|CLYBL_ENST00000444838.2_Silent_p.K60K|CLYBL_ENST00000376354.1_Silent_p.K60K|CLYBL_ENST00000376360.1_Silent_p.K60K	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	60					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAAAATAAAGAAGATTCCAT	0.423000													26	66					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654990	99654990	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:99654990G>C	ENST00000292450.4	+	2	525	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E121Q|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121Q|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	121	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CACTCTCCTCGAAGATCTGGA	0.577000													11	35					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43656271	43656271	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:43656271G>A	ENST00000396976.2	-	4	1666	c.1532C>T	c.(1531-1533)tCt>tTt	p.S511F	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	511					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GACGGGGCAAGAAGCAGTCTC	0.557000													19	65					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374646	180374646	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:180374646T>G	ENST00000231229.4	+	4	1042	c.808T>G	c.(808-810)Tgg>Ggg	p.W270G	BTNL8_ENST00000508408.1_Missense_Mutation_p.W270G|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000400707.3_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	130	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGAAGCATGGGCCGGTGC	0.502000													54	205					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077810	19077810	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:19077810C>T	ENST00000329773.2	-	2	227	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	47					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAACCCGTTTCCTACCAGCCC	0.582000													31	140					0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	228120	228120	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:228120G>A	ENST00000326153.4	-	3	403	c.404C>T	c.(403-405)tCc>tTc	p.S135F				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	364						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGCGGAGAAGGACTCGATGAG	0.697000													9	32					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908029	12908029	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:12908029G>A	ENST00000317869.6	-	2	339	c.114C>T	c.(112-114)tcC>tcT	p.S38S		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGCCATACTTGGAAAAGATCG	0.468000													16	194					0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666737	116666737	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:116666737C>T	ENST00000369500.3	+	4	505	c.240C>T	c.(238-240)gcC>gcT	p.A80A	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	80										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AAGGCCTGGCCGGGTACAGGG	0.592000													13	90					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594351	140594351	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140594351G>A	ENST00000341948.4	+	1	843	c.656G>A	c.(655-657)gGc>gAc	p.G219D		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		219	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGATGGTGGCTCTCCGCCC	0.537000													15	123					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56421973	56421973	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:56421973G>A	ENST00000588751.1	-	6	2262	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	NLRP13_ENST00000342929.3_Silent_p.L746L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	746							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGCAAGACAGAGACCCTTCA	0.463000													15	81					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104390554	104390554	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:104390554C>T	ENST00000361820.3	-	4	3082	c.2482G>A	c.(2482-2484)Gga>Aga	p.G828R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	828					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TACTCCACTCCATCAGGGGTG	0.413000													19	19					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26083537	26083537	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:26083537G>A	ENST00000324198.5	+	11	1052	c.860G>A	c.(859-861)gGt>gAt	p.G287D		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	287	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCACAACACGGTGTGTTCTCT	0.408000													8	38					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234369	18234369	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:18234369C>T	ENST00000229002.2	-	6	580	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.R124Q	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	125	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAAAGATCTCGTTTGTTGCC	0.408000													21	68					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34889735	34889735	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:34889735C>T	ENST00000381831.3	-	15	2146	c.1883G>A	c.(1882-1884)aGg>aAg	p.R628K	GART_ENST00000381839.3_Missense_Mutation_p.R628K|GART_ENST00000543717.1_Missense_Mutation_p.R180K|GART_ENST00000381815.4_Missense_Mutation_p.R628K	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	628	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CACGATTTTCCTCACAAGGCT	0.458000													23	93					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691684	153691684	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:153691684G>A	ENST00000304337.2	-	2	1293	c.473C>T	c.(472-474)cCt>cTt	p.P158L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	158					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GACAGTCGAAGGGTCTACTGG	0.363000													16	27					0	0	1	0	0
ZFP69	339559	broad.mit.edu	37	1	40945130	40945130	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:40945130G>A	ENST00000372706.1	+	2	1103	c.97G>A	c.(97-99)Gag>Aag	p.E33K	ZFP69_ENST00000372705.3_Missense_Mutation_p.E33K					ZFP69 zinc finger protein																		GCCCCTGTGGGAGGATGTGAC	0.537000													8	29					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23712415	23712415	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:23712415C>T	ENST00000256797.4	-	12	1536	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	408					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCAAAGTTTCTCTCGGCTCA	0.547000													26	66					0	0	1	0	0
DAPP1	27071	broad.mit.edu	37	4	100787272	100787272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:100787272G>A	ENST00000296414.7	+	8	849	c.768G>A	c.(766-768)tgG>tgA	p.W256*	DAPP1_ENST00000512369.1_Nonsense_Mutation_p.W256*			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	256	PH.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TATTACGCTGGAAATTGGTGA	0.358000													7	22					0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44520618	44520618	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:44520618C>T	ENST00000372484.3	+	3	594	c.312C>T	c.(310-312)ccC>ccT	p.P104P	CTSA_ENST00000191018.5_Silent_p.P86P|CTSA_ENST00000354880.5_Silent_p.P104P|CTSA_ENST00000372459.2_Silent_p.P86P	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	86					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ATGGGGGTCCCGGCTGCAGCT	0.607000											OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	52					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167149862	167149862	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:167149862G>A	ENST00000375387.4	-	9	1329	c.989C>T	c.(988-990)aCc>aTc	p.T330I	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.T329I|SCN9A_ENST00000409435.1_Missense_Mutation_p.T329I|SCN9A_ENST00000303354.6_Missense_Mutation_p.T330I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	329						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTCACACAGGTGTACCCCTC	0.438000													3	10					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087601	9087601	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9087601G>A	ENST00000397910.4	-	1	4417	c.4214C>T	c.(4213-4215)tCa>tTa	p.S1405L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1405	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAATCCAGATGATTTTTCTGC	0.458000													18	74					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139047614	139047614	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:139047614T>A	ENST00000370540.1	-	1	65	c.42A>T	c.(40-42)aaA>aaT	p.K14N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	14						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGCAATTATTTTTCCAAATGG	0.328000													23	35					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102888015	102888015	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:102888015G>A	ENST00000230792.2	-	6	1277	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	NUDT12_ENST00000507423.1_Missense_Mutation_p.S376F	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	394	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CATTAAGGAGGAAGGCATTGG	0.428000													17	54					0	0	1	0	0
ENDOV	284131	broad.mit.edu	37	17	78403604	78403604	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:78403604C>T	ENST00000518137.1	+	9	839	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	ENDOV_ENST00000522751.1_Missense_Mutation_p.P77S|ENDOV_ENST00000517295.2_Missense_Mutation_p.P199S|ENDOV_ENST00000518901.1_Missense_Mutation_p.P77S|ENDOV_ENST00000323854.5_Missense_Mutation_p.P226S|ENDOV_ENST00000517795.1_Missense_Mutation_p.P77S|ENDOV_ENST00000518907.1_Intron|ENDOV_ENST00000520284.1_Intron|ENDOV_ENST00000520367.1_Missense_Mutation_p.P226S	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	271					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						AGTGGCATGCCCCAAAGGAGA	0.657000								Direct reversal of damage					11	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058049	9058049	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9058049G>A	ENST00000397910.4	-	3	29600	c.29397C>T	c.(29395-29397)atC>atT	p.I9799I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9801	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATCTGTCATGATTTCAGAGG	0.453000													20	51					0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128355670	128355670	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:128355670C>T	ENST00000315184.5	+	1	228	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	FAM71F1_ENST00000469348.1_Intron|FAM71F1_ENST00000485070.1_Intron	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	59										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGAGGGACTGCTCTGCCGGGT	0.547000													32	69					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345013	20345013	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:20345013G>A	ENST00000298642.2	+	1	623	c.587G>A	c.(586-588)gGc>gAc	p.G196D		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATGTTCTGGGCCTCTTTATG	0.413000													34	172					0	0	1	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780185	93780185	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:93780185G>A	ENST00000394221.2	-	2	620	c.171C>T	c.(169-171)acC>acT	p.T57T	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Silent_p.T57T	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	57	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TGGAGAACCAGGTCTTCCTAC	0.438000													41	153					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207572096	207572096	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:207572096C>T	ENST00000452335.2	-	3	342	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	76						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCTGGGTTTTCCTCCCTGGCC	0.557000													3	22					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750583	141750583	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:141750583G>A	ENST00000475668.2	+	24	2778	c.2724G>A	c.(2722-2724)gaG>gaA	p.E908E	MGAM_ENST00000549489.2_Silent_p.E908E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	908	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGGGACGGAGGAACCTAGCA	0.383000													25	44					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865815	57865815	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:57865815G>T	ENST00000228682.2	+	12	3383	c.3292G>T	c.(3292-3294)Gaa>Taa	p.E1098*	GLI1_ENST00000546141.1_Nonsense_Mutation_p.E1057*|GLI1_ENST00000543426.1_Nonsense_Mutation_p.E970*	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1098					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTACCTGGGGAAACAGAATT	0.522000													11	68					7.03913e-09	7.10099e-09	1	1	0
DGKE	8526	broad.mit.edu	37	17	54923082	54923082	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:54923082C>T	ENST00000284061.3	+	4	836	c.656C>T	c.(655-657)cCa>cTa	p.P219L	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	219	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CAGTGGACCCCATTAATAATC	0.398000													12	59					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361911	9361911	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9361911C>T	ENST00000456448.1	+	1	306	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGCTCATCATCCTGGCTGTCA	0.597000													12	51					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9026203	9026203	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9026203G>A	ENST00000397910.4	-	14	36986	c.36783C>T	c.(36781-36783)gtC>gtT	p.V12261V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12263	SEA 2.				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						GACCCTGCAGGACACTCTCCA	0.542000													52	168					0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49832490	49832490	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:49832490G>A	ENST00000396822.1	-	3	947	c.590C>T	c.(589-591)cCc>cTc	p.P197L	SNAI2_ENST00000020945.1_Missense_Mutation_p.P197L			O43623	SNAI2_HUMAN	snail family zinc finger 2	197					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AAGCAACCAGGGTCTGGAAAA	0.493000													21	79					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54128674	54128674	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:54128674C>T	ENST00000404125.1	-	28	3153	c.3098G>A	c.(3097-3099)gGa>gAa	p.G1033E	PSME4_ENST00000421748.2_Missense_Mutation_p.G177E	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1033					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTGTGATTTCCAAGGAGACA	0.428000													22	76					0	0	1	0	0
ZNF672	79894	broad.mit.edu	37	1	249141905	249141905	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:249141905C>T	ENST00000306562.3	+	4	1178	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCTGCTCTTCCACCAGGCGC	0.766000													4	2					0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768820	31768820	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:31768820C>T	ENST00000355459.2	+	1	429	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	139						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCTTCCCTTCCCTGGGCTAT	0.572000													7	35					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23233374	23233374	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:23233374G>A	ENST00000400191.3	+	11	2078	c.2060G>A	c.(2059-2061)gGt>gAt	p.G687D	EPHB2_ENST00000374632.3_Missense_Mutation_p.G688D|EPHB2_ENST00000374627.1_Missense_Mutation_p.G682D|EPHB2_ENST00000374630.3_Missense_Mutation_p.G687D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	687	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CACCTGGAGGGTGTCGTGACC	0.597000													7	38					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10391870	10391870	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:10391870C>T	ENST00000397077.1	-	15	2770	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	ATP2B2_ENST00000343816.4_Missense_Mutation_p.R763Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R732Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R777Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R777Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	777					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTTGTCAATTCGCTCCTGCTC	0.612000													5	33					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16919090	16919090	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:16919090G>A	ENST00000377833.4	-	57	8977	c.8912C>T	c.(8911-8913)tCc>tTc	p.S2971F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2971	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTCACAGCGGAACGAGCTGG	0.453000													4	16					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	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				28	61					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749143	43749143	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:43749143G>A	ENST00000263801.3	-	12	1900	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	TP53BP1_ENST00000382039.3_Missense_Mutation_p.P555S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P555S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P555S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	550					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGAGACATGGGTTCCGTATCC	0.408000								Other conserved DNA damage response genes					13	32					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1517819	1517819	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:1517819G>C	ENST00000381623.3	-	3	1748	c.559C>G	c.(559-561)Cgg>Ggg	p.R187G	SIRPD_ENST00000381621.1_Missense_Mutation_p.R188G			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	187						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CCCAGCAGCCGGAGGCAGCAG	0.612000													17	74					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25337599	25337599	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:25337599C>T	ENST00000330560.3	+	8	1468	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	CDCA2_ENST00000380665.3_Silent_p.L316L|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	331					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCGTTCTGTACTGAAGAAACC	0.448000													5	33					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897997	175897997	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:175897997C>T	ENST00000359240.3	+	5	1991	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	ADAM29_ENST00000445694.1_Missense_Mutation_p.L441F|ADAM29_ENST00000404450.4_Missense_Mutation_p.L441F|ADAM29_ENST00000514159.1_Missense_Mutation_p.L441F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	441	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGCTTTTGGGCTTTGTTGCAA	0.443000													23	74					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426026	125426026	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:125426026G>A	ENST00000284674.1	+	1	156	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	35					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCACAGCGCGGACATCCGCCG	0.701000													5	7					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418389	179418389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179418389C>T	ENST00000589042.1	-	334	89567	c.89343G>A	c.(89341-89343)tgG>tgA	p.W29781*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W28140*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W20716*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W20908*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W20841*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W27213*|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28140	Fibronectin type-III 117.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACAGTAGTCCATTCCTCTT	0.468000													8	59					0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561250	29561250	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:29561250C>T	ENST00000332303.4	-	1	783	c.660G>A	c.(658-660)aaG>aaA	p.K220K	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	220	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TAATGAGTTTCTTTGGATCTC	0.527000													16	67					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133954044	133954044	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:133954044G>A	ENST00000298622.4	+	9	1572	c.1434G>A	c.(1432-1434)acG>acA	p.T478T		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGACAGGACGGACCAGACCC	0.612000													3	8					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215843757	215843757	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:215843757T>C	ENST00000272895.7	-	32	4967	c.4748A>G	c.(4747-4749)aAt>aGt	p.N1583S	ABCA12_ENST00000389661.4_Missense_Mutation_p.N1265S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1583					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCATTTAAATTTGGACTCTA	0.448000													11	59					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680996	73680996	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:73680996C>T	ENST00000264448.6	+	8	7450	c.7339C>T	c.(7339-7341)Cca>Tca	p.P2447S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P2405S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P2447S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2447					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAACTTCTTTCCATATGTTTC	0.448000													10	58					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57351242	57351242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:57351242C>T	ENST00000398138.3	-	1	861	c.5G>A	c.(4-6)tGg>tAg	p.W2*	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	2					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CAGGTAGAGCCACATGGCTTT	0.547000													24	80					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42647465	42647465	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:42647465C>T	ENST00000372899.1	+	42	4871	c.4613C>T	c.(4612-4614)cCt>cTt	p.P1538L	UBR2_ENST00000372901.1_Missense_Mutation_p.P1538L|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1538					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTGCAGTTCCTGGAACAAGC	0.333000													6	34					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101074939	101074939	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:101074939C>T	ENST00000360863.6	-	9	1588	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E	RGS22_ENST00000523287.1_Missense_Mutation_p.G284E|RGS22_ENST00000523437.1_Missense_Mutation_p.G453E	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	465					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTAGTAATCTCCATTGCTCAC	0.313000													3	24					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236766515	236766515	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:236766515A>C	ENST00000366582.3	-	3	418	c.304T>G	c.(304-306)Tcg>Gcg	p.S102A	HEATR1_ENST00000366579.1_Missense_Mutation_p.S102A|HEATR1_ENST00000366581.2_Missense_Mutation_p.S102A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	102					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAGTAAGGCGACAAGTGAATA	0.398000													28	66					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61432570	61432570	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:61432570G>A	ENST00000395348.3	-	3	934	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	SLC16A9_ENST00000395347.1_Missense_Mutation_p.P100S	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	100					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TAGATATTGGGAGCAAAACTG	0.443000													19	37					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4685642	4685642	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:4685642G>A	ENST00000262960.9	-	17	2304	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	DPP9_ENST00000594671.1_Missense_Mutation_p.P647L|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000598800.1_Missense_Mutation_p.P647L	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	647					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ACTCACCTGGGGGCCTCCATA	0.627000													5	12					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43622078	43622078	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:43622078G>A	ENST00000355710.3	+	19	3327	c.3095G>A	c.(3094-3096)gGc>gAc	p.G1032D	RET_ENST00000340058.5_Missense_Mutation_p.G1032D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1032					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TATGACGACGGCCTCTCAGAG	0.542000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				50	140					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510999	56510999	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:56510999G>A	ENST00000302957.3	-	1	288	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAACTGGCCAGGATTTTGGGG	0.438000													40	95					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94564545	94564545	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:94564545G>A	ENST00000370225.3	-	6	659	c.573C>T	c.(571-573)ttC>ttT	p.F191F	ABCA4_ENST00000535735.1_Silent_p.F191F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	191					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCCATGAGCGAACTGCAGGG	0.587000													3	12					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	951687	951687	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:951687C>T	ENST00000264771.4	+	11	1103	c.918C>T	c.(916-918)acC>acT	p.T306T	TMEM175_ENST00000508204.1_Silent_p.T224T|TMEM175_ENST00000515740.1_Silent_p.T190T	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	306						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGAGTGCGACCGGGCCGCGCT	0.627000													16	91					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068001	9068001	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9068001G>A	ENST00000397910.4	-	3	19648	c.19445C>T	c.(19444-19446)tCa>tTa	p.S6482L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6484	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTAATTGTGAAAATCCATG	0.493000													21	85					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885474	24885474	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:24885474T>C	ENST00000382554.3	+	9	4837	c.4519T>C	c.(4519-4521)Ttt>Ctt	p.F1507L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1507					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCCTCACCGTTTAGTTCTGC	0.552000													8	25					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219297673	219297673	+	Splice_Site	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:219297673A>T	ENST00000248444.5	+	13	1587	c.1500_splice	c.e13+1	p.Q500_splice	VIL1_ENST00000392114.2_Splice_Site_p.Q189_splice	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	500	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGTCTACCAGGTGTGGCTG	0.572000													3	51					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533644	92533644	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:92533644G>A	ENST00000298047.6	+	9	7482	c.7465G>A	c.(7465-7467)Gct>Act	p.A2489T	FAT3_ENST00000409404.2_Missense_Mutation_p.A2489T|FAT3_ENST00000525166.1_Missense_Mutation_p.A2339T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2489	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTACTTGGGGCTAACTTGTA	0.507000										TCGA Ovarian(4;0.039)			11	36					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270247	36270247	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:36270247G>A	ENST00000394571.2	+	6	1384		c.e6+1		PNPLA1_ENST00000388715.3_Splice_Site|PNPLA1_ENST00000312917.5_Splice_Site	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1						lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CAGCCCCAAGGTATGGACCCT	0.567000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	129					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48537810	48537810	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:48537810T>C	ENST00000537810.1	-	48	7032	c.6428A>G	c.(6427-6429)aAt>aGt	p.N2143S	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.N2143S|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.N2143S			O94915	FRYL_HUMAN	FRY-like	2143					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTGTGCCAGATTGACAAGTGT	0.368000													4	17					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22132392	22132392	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:22132392C>T	ENST00000389398.5	+	13	1316	c.1220C>T	c.(1219-1221)tCt>tTt	p.S407F	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	407						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GACAAGACTTCTGCAGAGTGG	0.493000													20	73					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54974110	54974110	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:54974110G>A	ENST00000333834.4	-	1	784	c.666C>T	c.(664-666)caC>caT	p.H222H		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	222					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTGGTTCCTGGTGCCCTGTGC	0.701000													22	33					0	0	1	0	0
FAM96A	84191	broad.mit.edu	37	15	64381011	64381011	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:64381011G>A	ENST00000557835.1	-	2	190	c.164C>T	c.(163-165)aCt>aTt	p.T55I	FAM96A_ENST00000300030.3_Missense_Mutation_p.T55I|FAM96A_ENST00000559950.1_Missense_Mutation_p.T55I|FAM96A_ENST00000380290.3_Missense_Mutation_p.T55I			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	55					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TTCTTCTAAAGTATTGGGCTT	0.353000													6	21					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139905886	139905886	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:139905886G>A	ENST00000265662.5	-	37	5919	c.5772C>T	c.(5770-5772)ttC>ttT	p.F1924F	ABCA2_ENST00000341511.6_Silent_p.F1924F|ABCA2_ENST00000371605.3_Silent_p.F1923F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1923					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCTGTAGCAGGAAGGTGGCCA	0.647000													4	7					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64147048	64147048	+	Silent	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:64147048C>A	ENST00000354504.3	-	12	2263	c.1674G>T	c.(1672-1674)ggG>ggT	p.G558G	VPS54_ENST00000272322.4_Silent_p.G711G|VPS54_ENST00000409558.3_Silent_p.G699G			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	711					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AAGCAATCTTCCCATCTGACA	0.358000													11	21					3.86212e-05	3.87337e-05	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200948729	200948729	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:200948729G>A	ENST00000332129.2	-	29	4371	c.4055C>T	c.(4054-4056)tCc>tTc	p.S1352F	KIF21B_ENST00000422435.2_Missense_Mutation_p.S1365F|KIF21B_ENST00000461742.2_Missense_Mutation_p.S1365F|KIF21B_ENST00000360529.5_Missense_Mutation_p.S1352F	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1365					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTGGACACGGAGAACACAAG	0.582000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	193					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160114984	160114984	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:160114984G>A	ENST00000327245.5	-	5	944	c.98C>T	c.(97-99)cCa>cTa	p.P33L	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	33					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCTTTCTCTGGAGAGAGCAG	0.542000													23	70					0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8691819	8691819	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:8691819C>T	ENST00000299663.3	-	3	379	c.214G>A	c.(214-216)Gga>Aga	p.G72R	CLEC4E_ENST00000446457.2_Missense_Mutation_p.G72R|CLEC4E_ENST00000545274.1_Missense_Mutation_p.G72R	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	72						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ATACCTGATCCATAATTGTAG	0.383000													35	75					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723377	48723377	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:48723377G>A	ENST00000335017.1	+	1	615	c.303G>A	c.(301-303)agG>agA	p.R101R		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	101					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AAGCGCCCAGGGGGCAGGCCA	0.672000													8	37					0	0	1	0	0
SLC30A7	148867	broad.mit.edu	37	1	101379246	101379246	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:101379246A>T	ENST00000370112.4	+	6	726	c.539A>T	c.(538-540)aAt>aTt	p.N180I	SLC30A7_ENST00000357650.4_Missense_Mutation_p.N180I	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	180	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TCCCTCTTTAATGGTGCTCTA	0.408000													18	63					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582844	55582844	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:55582844A>C	ENST00000361849.3	-	34	5042	c.4648T>G	c.(4648-4650)Ttt>Gtt	p.F1550V	PCDH15_ENST00000437009.1_Missense_Mutation_p.F1479V|PCDH15_ENST00000395433.1_Missense_Mutation_p.F1525V|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1545V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.F1548V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1508V	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1548					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGTCTACAAAATCTGTTCTC	0.403000										HNSCC(58;0.16)			21	63					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158595957	158595957	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:158595957G>A	ENST00000368148.3	-	42	6069	c.5889C>T	c.(5887-5889)ttC>ttT	p.F1963F	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.F1960F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1963					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAAGAGTGAGGAAGTCACCAA	0.398000													8	51					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41006661	41006661	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:41006661C>T	ENST00000308423.2	+	2	1957	c.1797C>T	c.(1795-1797)caC>caT	p.H599H	AOC3_ENST00000591562.1_Silent_p.H56H	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	599					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTGGGGTCACCCCCGGGGCT	0.647000													9	43					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35392117	35392117	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:35392117C>T	ENST00000311565.4	+	8	988	c.639C>T	c.(637-639)atC>atT	p.I213I	PPARD_ENST00000540939.1_Silent_p.I110I|PPARD_ENST00000444397.1_Silent_p.I213I|PPARD_ENST00000448077.2_Silent_p.I174I|PPARD_ENST00000337400.2_Silent_p.I213I|PPARD_ENST00000360694.3_Silent_p.I213I|PPARD_ENST00000418635.2_Silent_p.I115I	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	213					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CCTTTGTGATCCACGACATCG	0.587000													14	35					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21051232	21051232	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:21051232C>T	ENST00000261383.3	-	33	4671	c.4672G>A	c.(4672-4674)Gat>Aat	p.D1558N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1558N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1558	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGGCGTAATCTGGGACCATC	0.473000													27	81					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18432754	18432754	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:18432754C>T	ENST00000440756.2	-	13	2631	c.2529G>A	c.(2527-2529)ttG>ttA	p.L843L	PSD3_ENST00000428502.2_Silent_p.L170L|PSD3_ENST00000327040.8_Silent_p.L841L|PSD3_ENST00000286485.8_Silent_p.L307L|PSD3_ENST00000523619.1_Silent_p.L776L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	842	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGCGTTTTTCAAGTCCTCTT	0.418000													18	58					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784211	140784211	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140784211C>T	ENST00000573521.1	+	1	1692	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCCTGTACCCTGCCCTCC	0.557000													33	177					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:128341887G>A	ENST00000389524.4	+	13	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MYO7B_ENST00000428314.1_Missense_Mutation_p.E512K|MYO7B_ENST00000409816.2_Missense_Mutation_p.E512K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	512	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602000													17	58					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31141913	31141913	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:31141913C>T	ENST00000543774.2	+	10	1478	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	KAT8_ENST00000448516.2_Silent_p.S381S|KAT8_ENST00000219797.4_Silent_p.S381S			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	381					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GCACACTGTCCATCAAGGACC	0.647000													9	54					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99473510	99473510	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:99473510C>T	ENST00000268035.6	+	15	3543	c.2932C>T	c.(2932-2934)Ccg>Tcg	p.P978S	IGF1R_ENST00000558762.1_Missense_Mutation_p.P977S	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	978					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTCTGTGAACCCGGAGTACTT	0.512000													5	9					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113300004	113300004	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:113300004C>T	ENST00000541869.1	+	2	163	c.47C>T	c.(46-48)cCg>cTg	p.P16L	POLR1B_ENST00000409894.3_5'UTR|POLR1B_ENST00000263331.5_5'UTR			Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	0					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCACTACTTCCGGCGTGTACC	0.657000													11	19					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126142434	126142434	+	Silent	SNP	G	G	A	rs145864589		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:126142434G>A	ENST00000393425.1	+	13	1335	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	CCDC37_ENST00000505024.1_Silent_p.T412T|CCDC37_ENST00000352312.1_Silent_p.T411T			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	411				Missing (in Ref. 3; AAI01370/AAI01368).						NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GCCAGGAGACGGAGAAGACCC	0.612000													16	73					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924718	188924718	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:188924718G>A	ENST00000326866.4	+	4	1165	c.757G>A	c.(757-759)Gga>Aga	p.G253R	ZFP42_ENST00000509524.1_Missense_Mutation_p.G253R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	253					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGAAGGGTGCGGAAAGCGCTT	0.507000													9	45					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814737	128814737	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:128814737T>C	ENST00000270861.5	+	12	2666	c.2392T>C	c.(2392-2394)Ttt>Ctt	p.F798L	PLK4_ENST00000513090.1_Missense_Mutation_p.F766L|PLK4_ENST00000514379.1_Missense_Mutation_p.F757L|PLK4_ENST00000507249.1_Missense_Mutation_p.F737L|PLK4_ENST00000515069.1_Missense_Mutation_p.F720L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	798					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGTGCTCCCTTTTTCCCAAT	0.308000													3	53					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224463014	224463014	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:224463014C>T	ENST00000305409.2	-	2	1219	c.987G>A	c.(985-987)ggG>ggA	p.G329G		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	329					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCCCATTTTGCCCATTCTGTA	0.418000													5	158					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22314047	22314047	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:22314047G>A	ENST00000398793.2	-	15	2150	c.1716C>T	c.(1714-1716)gcC>gcT	p.A572A	TOP3B_ENST00000413067.2_3'UTR|TOP3B_ENST00000357179.5_Silent_p.A572A	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	572					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCTTGCCCTGGGCGATCAGGT	0.602000													30	135					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029299	219029299	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:219029299G>A	ENST00000295683.2	-	2	756	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	212					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ACAGCGGCACGATGAAGCCAA	0.517000													20	74					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196539713	196539713	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:196539713T>A	ENST00000327134.3	+	10	1248	c.926T>A	c.(925-927)tTt>tAt	p.F309Y		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	309	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ATCGTTAACTTTTTGGACAGG	0.373000													11	24					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519645	23519645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:23519645G>T	ENST00000374619.1	-	1	1577	c.1068C>A	c.(1066-1068)taC>taA	p.Y356*	HTR1D_ENST00000314113.3_Nonsense_Mutation_p.Y356*	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	356					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TAAACACAGTGTAGATTATTG	0.468000													27	104					4.43304e-23	4.52503e-23	1	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766703	27766703	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:27766703G>A	ENST00000451261.2	+	5	2090	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AAGTGGGAACGAGATGAAGAC	0.507000													6	5					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908073	139908073	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:139908073C>T	ENST00000297183.6	+	29	5666	c.5542C>T	c.(5542-5544)Ccc>Tcc	p.P1848S	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1848S|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1848S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P231S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTCTCTACCCTTAGCTTA	0.453000													23	110					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762236	43762236	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:43762236G>A	ENST00000244293.7	-	4	1148	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Missense_Mutation_p.S268F|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GAGAATTTGGGATTTGCTTGT	0.448000													20	34					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235485	8235485	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:8235485G>A	ENST00000520004.1	-	3	698	c.434C>T	c.(433-435)cCc>cTc	p.P145L	SGK223_ENST00000330777.4_Missense_Mutation_p.P145L			Q86YV5	SG223_HUMAN		145							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGAGGTAGAGGGACCAGCAGG	0.632000													17	98					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309964	37309964	+	Missense_Mutation	SNP	C	C	T	rs140259727	byFrequency	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:37309964C>T	ENST00000356725.4	-	5	1402	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGTCTTCCCGCATTGCTTA	0.403000													19	79					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54688960	54688960	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:54688960C>T	ENST00000540264.2	-	1	582	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	NFE2_ENST00000553070.1_Missense_Mutation_p.E25K|NFE2_ENST00000435572.2_Missense_Mutation_p.E25K|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.E25K			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	25	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CAAGTCAGTTCCATCTCTCCT	0.587000													11	42					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230998	2230998	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:2230998G>A	ENST00000343516.6	-	18	2463	c.2371C>T	c.(2371-2373)Ctt>Ttt	p.L791F		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	791	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTCCCCCAAGGGCCTGGGGA	0.711000													5	20					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153191630	153191630	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:153191630C>T	ENST00000370028.3	-	1	84	c.27G>A	c.(25-27)cgG>cgA	p.R9R	ARHGAP4_ENST00000393721.1_Silent_p.R9R|ARHGAP4_ENST00000370016.1_Silent_p.R9R|ARHGAP4_ENST00000350060.5_Silent_p.R9R	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	9					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCCGCTCCCGCCGCAGCT	0.736000													12	7					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207559598	207559598	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:207559598G>A	ENST00000452335.2	-	8	839	c.723C>T	c.(721-723)taC>taT	p.Y241Y		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	241			Y -> C (in dbSNP:rs16838593).			plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCAGACAGCGGTATCTGCCAG	0.393000													11	46					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008477	46008477	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:46008477C>T	ENST00000296137.2	-	8	2554	c.2349G>A	c.(2347-2349)ggG>ggA	p.G783G	FYCO1_ENST00000535325.1_Silent_p.G783G	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	783					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTTGGACCTCCCCCTGATGGA	0.632000													19	50					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423561	88423561	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:88423561C>T	ENST00000394480.1	-	18	2553	c.2232G>A	c.(2230-2232)gtG>gtA	p.V744V	NTRK3_ENST00000357724.2_Silent_p.V750V|NTRK3_ENST00000360948.2_Silent_p.V758V|NTRK3_ENST00000355254.2_Silent_p.V744V|NTRK3_ENST00000557856.1_Silent_p.V736V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	758	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCAGAGGATCACCCCGAAGC	0.532000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			17	85					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178385996	178385996	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:178385996G>A	ENST00000264167.4	+	18	1843		c.e18-1		AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase						ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTGTTTTTTAGGGTGACGCAG	0.388000													12	51					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85334079	85334079	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:85334079G>A	ENST00000299927.3	+	2	2386	c.2364G>A	c.(2362-2364)gaG>gaA	p.E788E	ZNF592_ENST00000560079.2_Silent_p.E788E			Q92610	ZN592_HUMAN	zinc finger protein 592	788					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGTAAAGGAGAATTGCCTGC	0.587000													14	75					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274205	39274205	+	Silent	SNP	T	T	C	rs80322614		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:39274205T>C	ENST00000391413.2	-	1	401	c.363A>G	c.(361-363)agA>agG	p.R121R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121R(1)		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)			agcactggggtctgcagcagc	0.647000													4	44					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1563124	1563124	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:1563124G>A	ENST00000357210.4	+	13	1985	c.1769G>A	c.(1768-1770)aGc>aAc	p.S590N	MIB2_ENST00000518681.1_Missense_Mutation_p.S582N|MIB2_ENST00000504599.1_Missense_Mutation_p.S546N|MIB2_ENST00000520777.1_Missense_Mutation_p.S643N|MIB2_ENST00000378708.1_Missense_Mutation_p.S496N|MIB2_ENST00000378710.3_Missense_Mutation_p.S554N|MIB2_ENST00000378712.1_Missense_Mutation_p.S467N|MIB2_ENST00000505820.2_Missense_Mutation_p.S647N|MIB2_ENST00000360522.4_Missense_Mutation_p.S555N|MIB2_ENST00000355826.5_Missense_Mutation_p.S633N	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	590					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCACCCAGAGCACAGCACTG	0.682000													6	18					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66526524	66526524	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:66526524C>T	ENST00000589228.1	+	11	1208	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	PRKAR1A_ENST00000586397.1_Silent_p.G360G|PRKAR1A_ENST00000358598.2_Silent_p.G360G|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000392711.1_Silent_p.G360G|PRKAR1A_ENST00000536854.2_Silent_p.G360G	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	360					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GTGTTCTTGGCCCATGCTCAG	0.507000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				15	103					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266791	48266791	+	Missense_Mutation	SNP	C	C	T	rs72653154		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:48266791C>T	ENST00000225964.5	-	39	2894	c.2776G>A	c.(2776-2778)Ggt>Agt	p.G926S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	926	Triple-helical region.		G -> C (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCAGGGGGACCAGGGGGACCA	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						19	108					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27135528	27135528	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:27135528C>T	ENST00000343060.4	-	1	65	c.4G>A	c.(4-6)Gac>Aac	p.D2N	HOXA1_ENST00000355633.5_Missense_Mutation_p.D2N|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	2						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTGCATTGTCCATCTGTCAC	0.537000											OREG0003739|OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=HOXA1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	58	113					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449339	91449339	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:91449339G>A	ENST00000266719.3	-	2	967	c.720C>T	c.(718-720)gcC>gcT	p.A240A		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	240					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTCTCAAAAAGGCCACTTTAG	0.368000													21	71					0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113459826	113459826	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:113459826G>A	ENST00000538576.1	-	4	2033	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L	SLC16A1_ENST00000369626.3_Missense_Mutation_p.P401L|SLC16A1_ENST00000433570.4_Missense_Mutation_p.P401L	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	401					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CAGGAGGACAGGACAGCATTC	0.483000													8	33					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862234	5862234	+	Silent	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:5862234T>C	ENST00000329322.5	-	1	893	c.894A>G	c.(892-894)aaA>aaG	p.K298K	OR52E6_ENST00000379946.2_Silent_p.K302K|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTAATATGTTTGGTTCTGA	0.428000													15	73					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595200	140595200	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:140595200C>T	ENST00000341948.4	+	1	1692	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCACATCCCTGGTCTCC	0.657000													60	218					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174781025	174781025	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:174781025G>A	ENST00000489615.1	+	2	625	c.224G>A	c.(223-225)aGa>aAa	p.R75K	RABGAP1L_ENST00000347255.2_Missense_Mutation_p.R83K|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.R82K|RABGAP1L_ENST00000251507.4_Missense_Mutation_p.R756K|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.R63K	NM_001243765.1	NP_001230694.1	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	756					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAGTTCTTTAGAGTTCAGCTT	0.373000													28	44					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113655146	113655146	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:113655146A>T	ENST00000358160.4	+	14	1982	c.1490A>T	c.(1489-1491)aAt>aTt	p.N497I	GRAMD1C_ENST00000472026.1_Missense_Mutation_p.N330I|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.N292I|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.N226I	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	497						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCTGTATTAAATCAGGCCATT	0.368000													12	36					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2926801	2926801	+	Silent	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:2926801C>A	ENST00000261596.4	-	13	1951	c.1713G>T	c.(1711-1713)ctG>ctT	p.L571L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	571					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TGGATTCTGGCAGCTGTAACA	0.542000													8	16					5.18039e-06	5.20559e-06	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80764355	80764355	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:80764355G>A	ENST00000458043.2	+	55	6600	c.6594G>A	c.(6592-6594)ggG>ggA	p.G2198G	OTOGL_ENST00000547103.1_Silent_p.G2186G|OTOGL_ENST00000546620.1_Silent_p.G217G	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTAGGTAGGGAGTACCTGGC	0.308000													21	56					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96361620	96361620	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:96361620G>A	ENST00000266736.2	+	9	1386	c.1280G>A	c.(1279-1281)tGa>tAa	p.*427*		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	0					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TATAAAACATGATAGATTTGA	0.254000													4	5					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970297	118970297	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:118970297G>A	ENST00000515256.1	+	3	1026	c.854G>A	c.(853-855)gGa>gAa	p.G285E				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	285	Glu-rich.					intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						gaggaaaatggaaatgagaag	0.537000													28	89					0	0	1	0	0
AKTIP	64400	broad.mit.edu	37	16	53532426	53532426	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:53532426G>A	ENST00000300245.4	-	4	342	c.125C>T	c.(124-126)tCt>tTt	p.S42F	AKTIP_ENST00000394657.6_Missense_Mutation_p.S42F|AKTIP_ENST00000570004.1_Missense_Mutation_p.S42F			Q9H8T0	AKTIP_HUMAN	AKT interacting protein	42					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TTTGGGAATAGAAGGCAGCTG	0.483000													19	73					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33951553	33951553	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:33951553C>T	ENST00000262325.7	+	6	1216	c.663C>T	c.(661-663)ttC>ttT	p.F221F	AP2B1_ENST00000538556.1_Silent_p.F164F|AP2B1_ENST00000589344.1_Silent_p.F221F|AP2B1_ENST00000537622.2_Silent_p.F221F|AP2B1_ENST00000312678.8_Silent_p.F221F|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Silent_p.F183F	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	221					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCCAGATTTTCATCCTGGACT	0.473000													17	59					0	0	1	0	0
PAIP2	51247	broad.mit.edu	37	5	138700376	138700376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:138700376C>T	ENST00000394795.2	+	3	1253	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	PAIP2_ENST00000265192.4_Nonsense_Mutation_p.Q88*|PAIP2_ENST00000503553.2_3'UTR|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000510080.1_Nonsense_Mutation_p.Q88*			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	88					negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGACCAAATCCAAGACCAGTT	0.373000													18	41					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707908	50707908	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:50707908G>A	ENST00000330943.4	-	4	531	c.360C>T	c.(358-360)ttC>ttT	p.F120F	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	120	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	p.F120F(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGAGCTTCGCGAAGTCGGAAT	0.552000													19	59					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064949	7064949	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:7064949G>A	ENST00000299481.4	+	4	2038	c.1692G>A	c.(1690-1692)atG>atA	p.M564I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	564					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTCAGTGTATGGAAGTATTAG	0.368000													7	50					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67267416	67267416	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:67267416C>A	ENST00000392676.3	-	21	2843	c.2779G>T	c.(2779-2781)Gat>Tat	p.D927Y	ABCA5_ENST00000392677.2_Missense_Mutation_p.D928Y|ABCA5_ENST00000588877.1_Missense_Mutation_p.D927Y			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	927					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTAATAAGATCACTGATATCT	0.353000													8	29					0.000157383	0.000157689	1	1	0
RELB	5971	broad.mit.edu	37	19	45515469	45515469	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:45515469C>T	ENST00000221452.8	+	4	589	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	RELB_ENST00000540120.1_Missense_Mutation_p.R147C|RELB_ENST00000505236.1_Missense_Mutation_p.R144C	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	147	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GTGCGAGGGCCGCTCGGCCGG	0.746000													14	21					0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063703	74063703	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:74063703G>A	ENST00000370370.3	-	2	234	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	55	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CCTTCAGCTCGAGCATGGCCT	0.587000													15	45					0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42089159	42089159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:42089159C>T	ENST00000244020.3	+	5	701	c.595C>T	c.(595-597)Cga>Tga	p.R199*		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	199	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TAATAGGTCTCGATCTAGAAG	0.413000													9	54					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17152941	17152941	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:17152941G>A	ENST00000377833.4	-	9	1057	c.992C>T	c.(991-993)tCc>tTc	p.S331F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	331	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGGCAGTGGGAAGACCCAGG	0.512000													34	88					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981715	7981715	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:7981715C>T	ENST00000328600.2	-	2	1605	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	482	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTTGGTCCTCTTTCACCAGG	0.507000													34	96					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47821564	47821564	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:47821564G>A	ENST00000359568.5	+	26	4998	c.4891G>A	c.(4891-4893)Ggc>Agc	p.G1631S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1631					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCCTCCTTCGGGCAGCCCTCC	0.567000													19	91					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857182	210857182	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:210857182G>A	ENST00000367007.4	-	11	2499	c.2330C>T	c.(2329-2331)tCc>tTc	p.S777F	KCNH1_ENST00000271751.4_Missense_Mutation_p.S804F	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	804					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCCGGAGGTGGAGGCTGCCTG	0.672000													13	121					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85447645	85447645	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:85447645G>A	ENST00000316356.4	-	6	1049	c.485C>T	c.(484-486)cCg>cTg	p.P162L	SYTL2_ENST00000389960.4_Missense_Mutation_p.P161L|SYTL2_ENST00000527523.1_Missense_Mutation_p.P113L|SYTL2_ENST00000524452.1_Missense_Mutation_p.P161L|SYTL2_ENST00000528231.1_Missense_Mutation_p.P161L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	161					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCTATTAAACGGATTCTTCCT	0.343000													5	21					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756481	56756481	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:56756481C>T	ENST00000326855.2	+	1	135	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCATTGTATTCCTTCTCATCT	0.393000													17	93					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9782566	9782566	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:9782566C>T	ENST00000383829.2	+	4	2067	c.1663C>T	c.(1663-1665)Cca>Tca	p.P555S	BRPF1_ENST00000424362.1_Missense_Mutation_p.P555S|BRPF1_ENST00000433861.2_Missense_Mutation_p.P555S|BRPF1_ENST00000457855.1_Missense_Mutation_p.P555S|BRPF1_ENST00000302054.3_Missense_Mutation_p.P555S	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	555	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GAATGGGGTCCCATTGCTACG	0.557000													10	44					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548901	158548901	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:158548901C>T	ENST00000368150.1	-	1	788	c.789G>A	c.(787-789)gtG>gtA	p.V263V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGATTATAACCACGGTGAGGT	0.473000													51	116					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433433	4433433	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:4433433C>T	ENST00000301280.5	+	13	2671	c.2570C>T	c.(2569-2571)cCc>cTc	p.P857L		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	857	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGCGTCCCCTCCACGGGG	0.642000								Chromatin Structure					17	63					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90830522	90830522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:90830522G>A	ENST00000394980.1	+	3	1038	c.719G>A	c.(718-720)tGg>tAg	p.W240*	MMRN1_ENST00000394981.1_Nonsense_Mutation_p.W206*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.W240*|MMRN1_ENST00000508372.1_5'UTR			Q13201	MMRN1_HUMAN	multimerin 1	240	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CCTTGTGGCTGGACCGGTGGA	0.413000													7	31					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92573798	92573798	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:92573798C>T	ENST00000298047.6	+	17	10456	c.10439C>T	c.(10438-10440)cCt>cTt	p.P3480L	FAT3_ENST00000409404.2_Missense_Mutation_p.P3480L|FAT3_ENST00000525166.1_Missense_Mutation_p.P3330L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3480	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACAATGGGCCTCCCTTTTCA	0.473000										TCGA Ovarian(4;0.039)			16	36					0	0	1	0	0
RHOD	29984	broad.mit.edu	37	11	66834233	66834233	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:66834233G>T	ENST00000308831.2	+	3	330	c.245G>T	c.(244-246)cGg>cTg	p.R82L	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R82L	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	82					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						GACCGCCTGCGGCCCCTGTTC	0.607000													50	185					1.4374e-25	1.46868e-25	1	1	0
SERPINA3	12	broad.mit.edu	37	14	95085773	95085773	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:95085773C>T	ENST00000553947.1	+	6	1848	c.960C>T	c.(958-960)acC>acT	p.T320T	SERPINA3_ENST00000393080.4_Silent_p.T295T|SERPINA3_ENST00000482740.1_Silent_p.T77T|SERPINA3_ENST00000467132.1_Silent_p.T295T|SERPINA3_ENST00000393078.3_Silent_p.T295T|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	295					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.T295T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCCCAGAGACCCTGAAGCGGT	0.562000													8	38					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545906	82545906	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:82545906C>T	ENST00000423517.2	-	7	11733	c.11396G>A	c.(11395-11397)cGa>cAa	p.R3799Q	PCLO_ENST00000437081.1_Missense_Mutation_p.R519Q|PCLO_ENST00000333891.8_Missense_Mutation_p.R3799Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3730	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCAGGTATCGTAGCTTAGC	0.443000													13	57					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393468	145393468	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:145393468C>T	ENST00000511217.1	+	4	955	c.903C>T	c.(901-903)atC>atT	p.I301I	SH3RF2_ENST00000359120.4_Silent_p.I301I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	301							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTTTCCATCACAACAGCCT	0.577000													33	99					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34817259	34817259	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:34817259C>T	ENST00000338074.2	+	22	2804	c.2643C>T	c.(2641-2643)tcC>tcT	p.S881S	EPB41L1_ENST00000373946.3_Silent_p.S701S|EPB41L1_ENST00000202028.5_Silent_p.S779S|EPB41L1_ENST00000441639.1_Silent_p.S779S|EPB41L1_ENST00000373950.2_Silent_p.S772S|EPB41L1_ENST00000373941.1_Silent_p.S880S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	881	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TCCAGGAATCCTGACCTCTGT	0.507000													7	30					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829272	115829272	+	Missense_Mutation	SNP	G	G	A	rs146716262		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:115829272G>A	ENST00000369512.2	-	3	313	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	49					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	p.R49C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CGGGCTCTGCGAAGGGCAGTG	0.612000													9	60					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48993969	48993969	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:48993969G>A	ENST00000226432.4	+	4	556	c.373G>A	c.(373-375)Gga>Aga	p.G125R	CWH43_ENST00000513409.1_Missense_Mutation_p.G98R	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	125					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CAGAATTTGGGGATTCATTTT	0.343000													10	49					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426025	125426025	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:125426025G>A	ENST00000284674.1	+	1	155	c.102G>A	c.(100-102)gcG>gcA	p.A34A		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	34					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGCACAGCGCGGACATCCGCC	0.701000													5	7					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8244167	8244167	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:8244167G>A	ENST00000332175.8	+	15	3449	c.2412G>A	c.(2410-2412)gaG>gaA	p.E804E	PTPRM_ENST00000444013.1_Silent_p.E591E|PTPRM_ENST00000400053.4_Silent_p.E742E|PTPRM_ENST00000400060.4_Silent_p.E804E|PTPRM_ENST00000580170.1_Silent_p.E804E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	804					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTGCGACGAGGCTTTCTCAT	0.483000													17	55					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46745000	46745000	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:46745000C>T	ENST00000311907.5	+	6	547	c.491C>T	c.(490-492)aCc>aTc	p.T164I	F2_ENST00000530231.1_Missense_Mutation_p.T164I	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	164	Kringle 1.			T -> I (in Ref. 9; AA sequence).|T -> N (in Ref. 7; CAA23842).	activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GACAGCAGCACCACGGGACCC	0.612000													8	40					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130715580	130715580	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:130715580C>T	ENST00000510168.1	+	24	2733	c.2183C>T	c.(2182-2184)cCt>cTt	p.P728L	ATP2C1_ENST00000504381.1_Missense_Mutation_p.P673L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.P728L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.P728L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.P712L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.P762L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.P728L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.P712L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.P712L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.P712L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.P728L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.P723L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.P728L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	728					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTTCCTAATCCTCTCAATGCC	0.358000									Hailey-Hailey disease				15	50					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204923996	204923996	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:204923996T>C	ENST00000367172.4	+	7	780	c.452T>C	c.(451-453)gTg>gCg	p.V151A	NFASC_ENST00000401399.1_Missense_Mutation_p.V151A|NFASC_ENST00000513543.1_Missense_Mutation_p.V145A|NFASC_ENST00000539706.1_Missense_Mutation_p.V145A|NFASC_ENST00000404076.1_Missense_Mutation_p.V145A|NFASC_ENST00000367169.4_Missense_Mutation_p.V151A|NFASC_ENST00000338515.6_Missense_Mutation_p.V151A|NFASC_ENST00000367171.4_Missense_Mutation_p.V151A|NFASC_ENST00000360049.4_Missense_Mutation_p.V145A|NFASC_ENST00000339876.6_Missense_Mutation_p.V151A|NFASC_ENST00000403080.1_Missense_Mutation_p.V151A|NFASC_ENST00000367170.4_Missense_Mutation_p.V151A|NFASC_ENST00000338586.6_Missense_Mutation_p.V151A|NFASC_ENST00000404907.1_Missense_Mutation_p.V145A			O94856	NFASC_HUMAN	neurofascin	151	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GACCCTGTCGTGGTCCAAGAG	0.597000													9	263					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61466797	61466797	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:61466797C>T	ENST00000424789.2	+	15	2725	c.2721C>T	c.(2719-2721)ttC>ttT	p.F907F	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Silent_p.F907F	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	907							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCTGGAGTTCGGGGCCAACG	0.498000													13	31					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177632798	177632798	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:177632798C>T	ENST00000280193.2	-	4	974	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	187					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACTGTAATTTCAAATAACTAC	0.373000													29	88					0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490303	141490303	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:141490303A>T	ENST00000247883.4	+	1	287	c.142A>T	c.(142-144)Atc>Ttc	p.I48F		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	48					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TAACCTCATTATCCTGGGCCT	0.458000													31	52					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43429979	43429979	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:43429979G>A	ENST00000446844.3	-	0	1278				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.468000													116	155					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62687980	62687980	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:62687980G>A	ENST00000281156.4	-	4	752	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAGGAACCAGGAATTTTTTAA	0.353000													15	43					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66526525	66526525	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:66526525C>T	ENST00000589228.1	+	11	1209	c.1081C>T	c.(1081-1083)Cca>Tca	p.P361S	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.P361S|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.P361S|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.P361S|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.P361S	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	361					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TGTTCTTGGCCCATGCTCAGA	0.512000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				15	104					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218939975	218939975	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:218939975G>A	ENST00000374155.3	+	8	1230	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	RUFY4_ENST00000344321.7_Missense_Mutation_p.E254K|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000463872.1_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	254							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAAGAAGGGGGAAAGTTCCAG	0.532000													3	9					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178385997	178385997	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:178385997G>A	ENST00000264167.4	+	18	1844	c.1697_splice	c.e18-1	p.R566_splice	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	566					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TGTTTTTTAGGGTGACGCAGA	0.388000													12	52					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65439597	65439597	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:65439597G>A	ENST00000304895.4	-	7	1290	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	GUSB_ENST00000345660.6_Missense_Mutation_p.P336L|GUSB_ENST00000421103.1_Missense_Mutation_p.P241L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	387					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTCTGCATAGGGGTAGTGGCT	0.597000													20	95					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256817	240256817	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:240256817C>T	ENST00000319653.9	+	1	1638	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	470					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAGAAGCACCGGGCCGACGG	0.736000													5	26					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	33					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124359953	124359953	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:124359953C>T	ENST00000409039.3	+	46	7785	c.7760C>T	c.(7759-7761)tCg>tTg	p.S2587L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2587	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1179L(1)|p.S2587L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGATTTATTTCGCTATTCAGT	0.443000													6	32					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335818	141335818	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:141335818G>A	ENST00000231484.3	-	1	2809	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	533	Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATCACCTGGAACTCAAAGC	0.542000													20	58					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266790	48266790	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:48266790C>T	ENST00000225964.5	-	39	2895	c.2777G>A	c.(2776-2778)gGt>gAt	p.G926D		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	926	Triple-helical region.		G -> C (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCAGGGGGACCAGGGGGACC	0.652000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						19	108					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459983	107459983	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:107459983G>A	ENST00000409382.3	-	2	1061	c.451C>T	c.(451-453)Cct>Tct	p.P151S	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P151S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P151S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	151					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCGGGGGAAGGGAATCCCAAT	0.607000													30	181					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66713311	66713311	+	Silent	SNP	G	G	A	rs143872916		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:66713311G>A	ENST00000423207.2	+	2	890	c.405G>A	c.(403-405)tcG>tcA	p.S135S	PDE4B_ENST00000329654.4_Silent_p.S150S|PDE4B_ENST00000371049.3_Silent_p.S150S	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	150					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)	AGGCGATGTCGAGAAACTCTT	0.507000													17	67					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195534	78195534	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:78195534G>A	ENST00000361193.3	+	3	455	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	SLC26A11_ENST00000546047.2_Missense_Mutation_p.G59S|SLC26A11_ENST00000572725.1_Missense_Mutation_p.G59S|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000411502.3_Missense_Mutation_p.G59S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	59						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCTCTCAGTTGGCCTCACTGC	0.647000													11	42					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956995	1956995	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:1956995G>A	ENST00000378585.4	+	4	371	c.288G>A	c.(286-288)cgG>cgA	p.R96R		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	96						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		AGAGCTGGCGGGACAGCAGGC	0.647000													23	83					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098263	144098263	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:144098263C>T	ENST00000467773.1	-	4	719	c.720G>A	c.(718-720)ggG>ggA	p.G240G	NOBOX_ENST00000223140.5_Silent_p.G155G|NOBOX_ENST00000483238.1_Silent_p.G240G	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	240					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGTGGCAGGGCCCCCGGCCTG	0.597000													8	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076401	9076401	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9076401C>T	ENST00000397910.4	-	3	11248	c.11045G>A	c.(11044-11046)aGg>aAg	p.R3682K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3683	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGCTCATCCTCTGGACACG	0.433000													18	57					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146658698	146658698	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:146658698T>G	ENST00000254090.4	-	9	1771	c.1383A>C	c.(1381-1383)ttA>ttC	p.L461F	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Intron|FMO5_ENST00000369272.3_3'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	461						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GTAATAAGTGTAATGCCAGCT	0.527000													16	60					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30866796	30866796	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:30866796G>A	ENST00000251071.5	-	16	3424	c.2674C>T	c.(2674-2676)Cct>Tct	p.P892S	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P558S|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P842S|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P891S|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P836S	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	892					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAATTGAAGGGAGTCCTCTA	0.323000													7	60					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52558578	52558578	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:52558578G>A	ENST00000307076.4	-	14	1871	c.1471C>T	c.(1471-1473)Ccg>Tcg	p.P491S	NT5DC2_ENST00000422318.2_Missense_Mutation_p.P528S|NT5DC2_ENST00000307092.4_Missense_Mutation_p.P432S|NT5DC2_ENST00000459839.1_Missense_Mutation_p.P503S	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	491				P -> S (in Ref. 2; BAB14064).			hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TGCTGCAGCGGCGTACGGCGT	0.632000													15	65					0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58928607	58928607	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:58928607C>T	ENST00000306910.4	+	4	1245	c.722C>T	c.(721-723)cCt>cTt	p.P241L	ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000593920.1_Missense_Mutation_p.P196L	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GGCATAAAACCTTTTAAGTGT	0.468000													21	18					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148871434	148871434	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:148871434C>T	ENST00000296051.2	+	7	1539	c.1400_splice	c.e7+1	p.L467_splice	HPS3_ENST00000460120.1_Splice_Site_p.L302_splice	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	467						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAAGAGGCTTCTGTAAGCATC	0.413000									Hermansky-Pudlak syndrome				21	68					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1742107	1742107	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:1742107G>A	ENST00000381241.3	+	2	344	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	ASMT_ENST00000381233.3_Missense_Mutation_p.V49M|ASMT_ENST00000381229.4_Missense_Mutation_p.V49M	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	49					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTGGCGGCAGTGGCTGCAGG	0.632000													13	34					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420545	55420545	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:55420545G>A	ENST00000242994.3	+	2	700	c.322G>A	c.(322-324)Gat>Aat	p.D108N		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	108	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TGACGCCCTGGATAACCTGAG	0.483000													15	70					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394626	154394626	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:154394626A>G	ENST00000435029.4	+	1	1367	c.1207A>G	c.(1207-1209)Agt>Ggt	p.S403G		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	403					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAAAAATTAAGTCGTTGTCT	0.453000													34	129					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926354	70926354	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:70926354C>T	ENST00000603540.1	+	2	2396	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	ADAM21_ENST00000267499.3_Missense_Mutation_p.P713L|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	713					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTCTGGTCCCAAAGAAACT	0.373000													13	79					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81234615	81234615	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:81234615G>A	ENST00000394685.3	+	27	4055	c.3636G>A	c.(3634-3636)gaG>gaA	p.E1212E	KIAA1199_ENST00000356249.5_Silent_p.E1212E|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.E1212E			Q8WUJ3	K1199_HUMAN	KIAA1199	1212										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATTTCTTGGAGGTGAAGATGG	0.483000													23	74					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475885	32475885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:32475885C>T	ENST00000404025.2	-	5	1536	c.1048G>A	c.(1048-1050)Ggt>Agt	p.G350S	NLRC4_ENST00000402280.1_Missense_Mutation_p.G350S|NLRC4_ENST00000360906.5_Missense_Mutation_p.G350S|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	350	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCACTTTCACCCATCTGGATT	0.443000													11	28					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161595991	161595991	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:161595991C>T	ENST00000294800.3	-	4	794	c.521G>A	c.(520-522)gGg>gAg	p.G174E	FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.G210E|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.G174E	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	174	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAACAAGCCCCCTGCAGAA	0.463000													37	74					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64418973	64418973	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:64418973G>A	ENST00000265459.6	-	14	3133	c.2672C>T	c.(2671-2673)cCc>cTc	p.P891L	NRXN2_ENST00000377559.3_Missense_Mutation_p.P851L|NRXN2_ENST00000409571.1_Missense_Mutation_p.P884L|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Missense_Mutation_p.P891L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	891	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTCCATGTAGGGCTGGCCATT	0.572000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	30					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006232	8006232	+	Silent	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:8006232A>G	ENST00000344293.5	+	3	965	c.759A>G	c.(757-759)gcA>gcG	p.A253A		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	253					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTCCAGTTGCAAAATCACAAA	0.438000													17	54					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642774	39642774	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:39642774G>A	ENST00000393986.2	-	8	1320	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	KRT36_ENST00000328119.6_Missense_Mutation_p.P420S			O76013	KRT36_HUMAN	keratin 36	420	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGGACAGAAGGAACTCTAATA	0.597000													5	22					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66087096	66087096	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:66087096C>T	ENST00000349533.6	+	18	2737	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	LEPR_ENST00000344610.8_Missense_Mutation_p.S851F|LEPR_ENST00000371058.1_Missense_Mutation_p.S851F|LEPR_ENST00000371059.3_Missense_Mutation_p.S851F|LEPR_ENST00000371060.3_Missense_Mutation_p.S851F|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	851					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTAATTATTTCCTCTTCCATC	0.328000													8	23					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79615127	79615127	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:79615127C>T	ENST00000328585.4	+	0	961				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCGCGCGAACCTGGCTGCCTC	0.756000													4	11					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283589	159283589	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:159283589G>A	ENST00000332217.5	-	1	860	c.861C>T	c.(859-861)ccC>ccT	p.P287P		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTACACAACAGGGTTCAGTAG	0.512000													17	101					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13090785	13090785	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:13090785A>G	ENST00000399002.2	+	7	1127	c.853A>G	c.(853-855)Aga>Gga	p.R285G	SPTLC3_ENST00000378194.4_Missense_Mutation_p.R285G	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	285					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GAAGCTCCTGAGAGATGCTGT	0.408000													14	44					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060331	111060331	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:111060331C>T	ENST00000369771.2	-	1	1466	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	360						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GATCTGCAGCCCCTTGGAGTG	0.572000													29	93					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67365742	67365742	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:67365742A>T	ENST00000382713.5	+	5	702	c.512A>T	c.(511-513)aAt>aTt	p.N171I	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	171	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GATATCCACAATGCCAAGGTC	0.448000													17	30					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150696118	150696118	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:150696118G>A	ENST00000297494.3	+	8	1258	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	NOS3_ENST00000484524.1_Missense_Mutation_p.E301K|NOS3_ENST00000467517.1_Missense_Mutation_p.E301K|NOS3_ENST00000461406.1_Missense_Mutation_p.E95K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	301	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGATCCCCCAGAACTCTTCCT	0.657000													39	265					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26582163	26582163	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:26582163G>A	ENST00000252992.4	+	4	841	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	CEP85_ENST00000451429.2_Missense_Mutation_p.R186Q	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	237						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GTGTTTGAGCGGAATGGACCA	0.597000													8	76					0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45417530	45417530	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:45417530C>T	ENST00000332700.6	-	3	818	c.647G>A	c.(646-648)cGa>cAa	p.R216Q		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AAGTTTCTTTCGGTCTGTTTT	0.413000													49	192					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64159355	64159355	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:64159355G>A	ENST00000395254.3	+	5	1311	c.1031G>A	c.(1030-1032)aGg>aAg	p.R344K	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCAAAGGGAAGGAACCACCTG	0.567000													25	92					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62782684	62782684	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:62782684C>T	ENST00000582986.1	-	0	2365					NR_024386.1																						GTCCCGCATACCTGATTGTGG	0.617000													6	20					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11184597	11184597	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:11184597G>A	ENST00000361445.4	-	47	6696	c.6620C>T	c.(6619-6621)aCc>aTc	p.T2207I	MTOR_ENST00000376838.1_Missense_Mutation_p.T412I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2207	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGCCAGAAGGGTGTTAACCAG	0.463000													20	52					0	0	1	0	0
COMMD1	150684	broad.mit.edu	37	2	62132845	62132845	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:62132845C>A	ENST00000311832.5	+	1	64	c.32C>A	c.(31-33)cCc>cAc	p.P11H	COMMD1_ENST00000538736.1_Missense_Mutation_p.P11H|COMMD1_ENST00000472729.1_Intron	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	11					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GGTGGCAAACCCCTGAGCGGG	0.667000													4	12					0.184627	0.184627	1	1	0
LNX2	222484	broad.mit.edu	37	13	28124527	28124527	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:28124527G>A	ENST00000316334.3	-	9	2009	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	627	PDZ 4.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AATGAAAAAAGGCTGATTGGT	0.368000													12	26					0	0	1	0	0
LBH	81606	broad.mit.edu	37	2	30457355	30457355	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:30457355G>A	ENST00000395323.3	+	2	319	c.111G>A	c.(109-111)aaG>aaA	p.K37K	LBH_ENST00000404397.1_Silent_p.K37K|LBH_ENST00000401506.1_Silent_p.K43K|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_Silent_p.K20K|LBH_ENST00000406087.1_Silent_p.K37K	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	37					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GCCCCCGCAAGGATGGCCTTT	0.567000													14	36					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38184467	38184467	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:38184467G>A	ENST00000373048.4	-	16	2777	c.2778C>T	c.(2776-2778)gaC>gaT	p.D926D	EPHA10_ENST00000427468.2_Silent_p.D926D|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Silent_p.D421D|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	926						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAAGGCACGGTCCGCTAGTG	0.677000													4	26					0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392741	22392741	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:22392741C>T	ENST00000390440.2	+	0	339																											CATTGAATTTCCAGAAGGCAA	0.463000													24	102					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029504	93029504	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:93029504G>A	ENST00000523629.1	-	3	630	c.176C>T	c.(175-177)cCc>cTc	p.P59L	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P32L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P22L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P70L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P32L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P59L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P22L|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.P22L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P22L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	59	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGTAGTTGGGGGAGGTGGCAT	0.453000													16	61					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88577678	88577678	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:88577678G>A	ENST00000339673.6	+	2	133	c.34G>A	c.(34-36)Gga>Aga	p.G12R	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.G12R	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	12					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GTTCCTTTGGGGATTATCCTG	0.388000													20	116					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425673	74425673	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:74425673C>T	ENST00000429990.1	+	7	1123	c.1027C>T	c.(1027-1029)Cct>Tct	p.P343S						nuclear pore complex interacting protein family, member B15																		TCTCAAGACTCCTCCcttagc	0.537000													10	121					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38655261	38655261	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:38655261C>T	ENST00000443581.1	-	6	869	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.A226T|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.A226T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A226T|SCN5A_ENST00000451551.2_Intron	NM_000335.4|NM_198056.2	NP_000326.2|NP_932173.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	226			A -> V (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTTTTCAGGGCCCGGAGGACT	0.493000													3	13					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24167679	24167679	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:24167679C>T	ENST00000265769.4	+	4	341	c.231C>T	c.(229-231)aaC>aaT	p.N77N	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Silent_p.N77N|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	77					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCTCCAGGAACCTCCTTGCAC	0.408000													4	23					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155348300	155348300	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:155348300G>A	ENST00000368346.3	-	9	6871	c.6232C>T	c.(6232-6234)Cgt>Tgt	p.R2078C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2073C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2078					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.R2073C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCACTTGAACGAATTTTCTTA	0.343000													13	27					0	0	1	0	0
CAPNS2	84290	broad.mit.edu	37	16	55600989	55600989	+	Silent	SNP	C	C	T	rs139521880	by1000genomes	TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:55600989C>T	ENST00000457326.2	+	1	406	c.321C>T	c.(319-321)gtC>gtT	p.V107V	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	107						cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TCAACAAAGTCCTTTCTAAGC	0.473000													23	96					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100371061	100371061	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:100371061C>T	ENST00000542585.1	+	0	5727				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTGGAACCTCCTGCGTGCCC	0.627000													26	42					0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203148994	203148994	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:203148994G>A	ENST00000255409.3	-	9	1031	c.906C>T	c.(904-906)ttC>ttT	p.F302F		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	302					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTCCGCGGAGGAAGTCACAGA	0.557000													32	37					0	0	1	0	0
PYDC1	260434	broad.mit.edu	37	16	31228283	31228283	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:31228283A>G	ENST00000302964.3	-	1	397	c.67T>C	c.(67-69)Ttc>Ctc	p.F23L	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	23	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TTCATCTTGAACTTCTTGAGC	0.652000													13	42					0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287571	29287571	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:29287571G>A	ENST00000266943.6	-	3	675	c.306C>T	c.(304-306)ttC>ttT	p.F102F	SLC46A3_ENST00000380814.4_Silent_p.F102F	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	102					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAATCATAGGGAATTTTCGTC	0.403000													6	21					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736405	7736405	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:7736405G>A	ENST00000572933.1	+	85	14455	c.12995G>A	c.(12994-12996)cGg>cAg	p.R4332Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R4332Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4332					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTCTGGGTCCGGGGCCTGTAC	0.607000													11	49					0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43941499	43941499	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:43941499A>T	ENST00000302708.4	+	10	1211	c.800A>T	c.(799-801)gAa>gTa	p.E267V	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA|ALKBH3-AS1_ENST00000499194.1_RNA|ALKBH3-AS1_ENST00000534287.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	267	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CACTCTAGAGAACCGAGAGTG	0.458000								Direct reversal of damage					26	75					0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49832489	49832489	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:49832489G>A	ENST00000396822.1	-	3	948	c.591C>T	c.(589-591)ccC>ccT	p.P197P	SNAI2_ENST00000020945.1_Silent_p.P197P			O43623	SNAI2_HUMAN	snail family zinc finger 2	197					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAAGCAACCAGGGTCTGGAAA	0.498000													21	80					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19500082	19500082	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:19500082G>A	ENST00000375267.2	-	23	3019	c.3016C>T	c.(3016-3018)Ctg>Ttg	p.L1006L	UBR4_ENST00000375254.3_Silent_p.L1006L|UBR4_ENST00000375217.2_Silent_p.L1006L|UBR4_ENST00000375226.2_Silent_p.L1006L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1006					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATCCTCCACAGTATCAAGAAG	0.453000													7	26					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43217136	43217136	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:43217136G>A	ENST00000255226.6	+	6	1648	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	SLC14A2_ENST00000586448.1_Missense_Mutation_p.E278K	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	278						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACAGAGATGGAAATGCCCCT	0.517000													21	57					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083787	66083787	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:66083787C>G	ENST00000311330.3	-	1	728	c.712G>C	c.(712-714)Gac>Cac	p.D238H	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	238						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CCCCCGTTGTCAGGGCTGCAG	0.682000													11	59					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96963003	96963003	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:96963003C>A	ENST00000389672.5	+	5	1516	c.1478C>A	c.(1477-1479)tCc>tAc	p.S493Y	EPHA6_ENST00000470610.2_Missense_Mutation_p.S493Y	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	398	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATCAACAATTCCGTGATAGTA	0.438000													23	51					2.79863e-10	2.8343e-10	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11038949	11038949	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:11038949G>A	ENST00000470054.1	-	0	1254									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTGATAATGAAAATGATGA	0.423000													20	397					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435015	10435015	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:10435015C>T	ENST00000245503.5	-	22	3016	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E878K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	878					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCCAGTTCCTTCCTTTTT	0.423000													17	52					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134012476	134012476	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:134012476G>A	ENST00000338492.4	+	8	975		c.e8+1		DPYSL4_ENST00000368629.1_Splice_Site|DPYSL4_ENST00000368627.1_Splice_Site	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4						axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		AAGCGCAGAGGTGAGCACCCA	0.677000													20	36					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73959937	73959937	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:73959937C>T	ENST00000373468.1	-	3	5106	c.4455G>A	c.(4453-4455)ctG>ctA	p.L1485L	KIAA2022_ENST00000055682.5_Silent_p.L1485L			Q5QGS0	K2022_HUMAN	KIAA2022	1485					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGTATTACCTCAGTTTTTCAA	0.478000													6	15					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27509101	27509101	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:27509101C>T	ENST00000301904.3	+	3	203	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SCARA3_ENST00000337221.4_Silent_p.F61F	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	61					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TTTACCTCTTCCTGGCCCTGC	0.647000													22	108					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110838732	110838732	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr13:110838732C>T	ENST00000375820.4	-	26	2018	c.1897_splice	c.e26+1	p.G633_splice		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	633	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGCCTCACCTGGCAGGCCT	0.622000													47	146					0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454823	33454823	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:33454823G>A	ENST00000256261.4	-	2	728	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F	DUSP26_ENST00000523956.1_Missense_Mutation_p.L71F	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	71	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TGGTCTCCGAGATAGAGGCCT	0.552000													6	13					0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40197982	40197982	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:40197982G>A	ENST00000392052.3	+	3	480	c.257G>A	c.(256-258)gGc>gAc	p.G86D	LGALS14_ENST00000360675.3_Missense_Mutation_p.G115D	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	86	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TTTGAAGATGGCAAACCATTT	0.458000													5	268					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105897098	105897098	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:105897098G>A	ENST00000393359.2	-	6	1630	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P402S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	402					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGAAGAGGAGGGTGGGACCGG	0.572000													8	42					0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42032642	42032642	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:42032642C>T	ENST00000359308.4	+	4	1112	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	XRCC6_ENST00000405506.1_Missense_Mutation_p.L103F|XRCC6_ENST00000360079.3_Missense_Mutation_p.L153F|XRCC6_ENST00000428575.2_Missense_Mutation_p.L20F|XRCC6_ENST00000405878.1_Missense_Mutation_p.L153F|XRCC6_ENST00000402580.3_Missense_Mutation_p.L112F			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	153					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CTGTGCCAACCTCTTTAGTGA	0.502000								Non-homologous end-joining					14	68					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82546056	82546056	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:82546056C>T	ENST00000423517.2	-	7	11583	c.11246G>A	c.(11245-11247)aGa>aAa	p.R3749K	PCLO_ENST00000437081.1_Missense_Mutation_p.R469K|PCLO_ENST00000333891.8_Missense_Mutation_p.R3749K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3680					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAGATCCTTCTCCTGGAAAC	0.468000													17	78					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639232	3639232	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:3639232G>A	ENST00000294008.3	-	12	5047	c.4407C>T	c.(4405-4407)tcC>tcT	p.S1469S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1469	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGAGTCCCGGGGAGCGACAGT	0.662000								Direct reversal of damage					75	223					0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86048681	86048681	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:86048681C>T	ENST00000451137.2	+	5	1326	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	368					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGCAGCGTTTCCCTTCTACAG	0.478000													12	57					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396842	220396842	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:220396842G>A	ENST00000358078.4	+	3	1242	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.E410K			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	410						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.E410K(1)									GTCCTGCCAGGAACAGCGGGT	0.622000													17	89					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472625	179472625	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:179472625G>A	ENST00000589042.1	-	276	53113	c.52889C>T	c.(52888-52890)aCc>aTc	p.T17630I	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T15989I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T8565I|TTN_ENST00000342175.6_Missense_Mutation_p.T8757I|TTN_ENST00000359218.5_Missense_Mutation_p.T8690I|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T15062I|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15989	Fibronectin type-III 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTGACGGTGTACTGACG	0.498000													23	100					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64676296	64676296	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:64676296G>A	ENST00000357395.3	+	103	18839	c.7695_splice	c.e103+1	p.E2565_splice	SYNE2_ENST00000555002.1_Splice_Site_p.E2814_splice|SYNE2_ENST00000344113.4_Splice_Site_p.E6180_splice|SYNE2_ENST00000358025.3_Splice_Site_p.E6180_splice|SYNE2_ENST00000554584.1_Splice_Site_p.E6142_splice|SYNE2_ENST00000555022.1_Splice_Site_p.E58_splice|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_5'UTR|SYNE2_ENST00000394768.2_Splice_Site_p.E2565_splice			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6180					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAGGTTTGAGGTAAACACCT	0.542000													4	29					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333466	70333466	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:70333466G>A	ENST00000338508.4	-	32	2934	c.2935C>T	c.(2935-2937)Cgc>Tgc	p.R979C	SHANK2_ENST00000423696.2_Missense_Mutation_p.R599C|SHANK2_ENST00000449833.2_Missense_Mutation_p.R383C|SHANK2_ENST00000409161.1_Missense_Mutation_p.R382C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	599					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTCTTGTTGCGGAAGTTGGCT	0.597000													43	155					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494714	55494714	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:55494714C>T	ENST00000543010.1	+	6	1791	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L	NLRP2_ENST00000263437.6_Silent_p.L547L|NLRP2_ENST00000538819.1_Silent_p.L526L|NLRP2_ENST00000448584.2_Silent_p.L550L|NLRP2_ENST00000339757.7_Silent_p.L528L|NLRP2_ENST00000427260.2_Silent_p.L527L|NLRP2_ENST00000391721.4_Silent_p.L526L|NLRP2_ENST00000537859.1_Silent_p.L528L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	550					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAACCCCGACCTGATCCAAGC	0.562000													44	39					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30785018	30785018	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:30785018G>A	ENST00000246229.4	-	3	992	c.728C>T	c.(727-729)tCg>tTg	p.S243L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	243						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGCTCCTGCGAGTGGCTCTT	0.577000													4	35					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810726	169810726	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:169810726G>A	ENST00000274629.4	-	3	705	c.263C>T	c.(262-264)gCt>gTt	p.A88V	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.A88V	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	88					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GTACAGCACAGCCCACCTGCC	0.592000													14	46					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476536	17476536	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:17476536G>A	ENST00000252590.4	-	3	799	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	246						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTGCGTGGGATAATGGAGT	0.582000													24	81					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267248	1267248	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:1267248G>A	ENST00000447027.1	+	31	9205	c.9147G>A	c.(9145-9147)agG>agA	p.R3049R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.R3046R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3046	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGTCCAAGGACTGCAACCA	0.617000													21	96					0	0	1	0	0
ASPDH	554235	broad.mit.edu	37	19	51015409	51015409	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:51015409G>A	ENST00000389208.4	-	6	853	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ASPDH_ENST00000376916.3_Silent_p.F159F	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	264					NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding			endometrium(1)|large_intestine(1)|lung(1)	3						GGCTCTGCCAGAAGGCCGTGA	0.711000													4	5					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133478150	133478150	+	Missense_Mutation	SNP	G	G	A	rs121918680		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:133478150G>A	ENST00000402696.3	+	9	1665	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	TF_ENST00000264998.3_Missense_Mutation_p.E267K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	394	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGAGACCACCGAAGACTGCAT	0.547000													28	67					0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211082779	211082779	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:211082779C>T	ENST00000233710.3	-	3	508	c.281G>A	c.(280-282)gGa>gAa	p.G94E	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	94					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TCCTTGTTTTCCAGCTTTTTC	0.388000													8	54					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41895783	41895783	+	Silent	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:41895783C>A	ENST00000396512.3	+	2	107	c.90C>A	c.(88-90)gcC>gcA	p.A30A	ACO2_ENST00000216254.4_Silent_p.A30A			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	30					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GCCAACGGGCCAAGGTGGCGA	0.517000													64	231					1.02487e-32	1.04821e-32	1	1	0
FCRL2	79368	broad.mit.edu	37	1	157736713	157736713	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:157736713C>T	ENST00000361516.3	-	7	1259	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	FCRL2_ENST00000368181.4_Missense_Mutation_p.G120E|FCRL2_ENST00000392274.3_Missense_Mutation_p.G404E|FCRL2_ENST00000469986.1_Missense_Mutation_p.G151E	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	404					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACCAAACAGTCCCCAGAGAAC	0.463000													13	75					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24929947	24929947	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:24929947C>T	ENST00000405141.1	+	14	2319	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	NCOA1_ENST00000538539.1_Silent_p.I536I|NCOA1_ENST00000348332.3_Silent_p.I536I|NCOA1_ENST00000395856.3_Silent_p.I536I|NCOA1_ENST00000406961.1_Silent_p.I536I|NCOA1_ENST00000407230.1_Silent_p.I385I|NCOA1_ENST00000288599.5_Silent_p.I536I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	536	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCAAACATCCCAGTAACAT	0.428000			T	PAX3	alveolar rhadomyosarcoma								13	64					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691829	77691829	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:77691829G>A	ENST00000296043.6	+	10	6353	c.5400G>A	c.(5398-5400)gcG>gcA	p.A1800A	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1800	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCAGGAGGCGAAGGGGAGCC	0.557000													13	71					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119161	161119161	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:161119161G>A	ENST00000523217.1	+	8	1253	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	GABRA6_ENST00000274545.5_Silent_p.V347V	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	347					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACCCACAGTGACAATATCAA	0.423000										TCGA Ovarian(5;0.080)			11	62					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27911627	27911627	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:27911627C>T	ENST00000326019.6	+	12	2546	c.2264C>T	c.(2263-2265)cCa>cTa	p.P755L		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	755						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ACACCTGGTCCAGGCAAAGTA	0.353000													4	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061992	9061992	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9061992G>A	ENST00000397910.4	-	3	25657	c.25454C>T	c.(25453-25455)cCc>cTc	p.P8485L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8487	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCATAATGGGGGAAGTAGA	0.493000													44	204					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121357652	121357652	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:121357652C>T	ENST00000297848.3	+	45	5197	c.4927C>T	c.(4927-4929)Ccc>Tcc	p.P1643S	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1643S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1548S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1643					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAACCAGATTCCCAGCCACTC	0.582000													21	82					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045759	47045759	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:47045759T>C	ENST00000450053.3	+	37	6253	c.6074T>C	c.(6073-6075)aTc>aCc	p.I2025T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.I1841T|NBEAL2_ENST00000383740.2_Missense_Mutation_p.I304T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2025							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGCCCCATCCCACCCCAT	0.617000													41	176					0	0	1	0	0
C2orf27B	408029	broad.mit.edu	37	2	132558489	132558489	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:132558489C>T	ENST00000303798.2	-	2	514	c.22G>A	c.(22-24)Gga>Aga	p.G8R		NM_214461.1	NP_999626.1	Q580R0	CB027_HUMAN	chromosome 2 open reading frame 27B	0										NS(1)	1						CCCTGCTCTCCACTCTCAGGC	0.587000													25	81					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5284731	5284731	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:5284731A>C	ENST00000262477.6	+	17	2642	c.2418A>C	c.(2416-2418)agA>agC	p.R806S	RABEP1_ENST00000341923.6_Missense_Mutation_p.R773S|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Missense_Mutation_p.R763S|RABEP1_ENST00000408982.2_Missense_Mutation_p.R773S|RABEP1_ENST00000546142.2_Missense_Mutation_p.R806S	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	806					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AAGCTCAGAGATTACAGACAG	0.393000													8	29					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29064829	29064829	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:29064829C>T	ENST00000373812.3	+	3	473	c.111C>T	c.(109-111)taC>taT	p.Y37Y	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Silent_p.Y37Y|YTHDF2_ENST00000541996.1_5'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	37					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTGAACCTTACTTGAGTCCAC	0.363000													11	38					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8604875	8604875	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:8604875C>T	ENST00000338257.8	-	16	1915	c.1648G>A	c.(1648-1650)Gga>Aga	p.G550R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	550	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTCTTGTCTCCATCCAGCTTC	0.627000													12	46					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219561253	219561253	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:219561253C>T	ENST00000295709.3	+	22	2794	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W	STK36_ENST00000440309.1_Missense_Mutation_p.R839W|STK36_ENST00000392105.3_Intron|STK36_ENST00000392106.2_Intron	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	839			R -> Q (in dbSNP:rs13023540).		cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGACAGGTTCGGTTGACTCC	0.502000													17	51					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183090	102183090	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:102183090C>T	ENST00000306176.1	+	7	904	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ZPLD1_ENST00000466937.1_Silent_p.F252F|ZPLD1_ENST00000491959.1_Silent_p.F252F	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	252	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGATCTTTTCCTTAGGTAAG	0.313000													19	68					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189022274	189022274	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:189022274G>A	ENST00000512729.1	-	3	640	c.266C>T	c.(265-267)aCc>aTc	p.T89I	TRIML2_ENST00000536972.1_Missense_Mutation_p.T139I|TRIML2_ENST00000326754.3_Missense_Mutation_p.T89I	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	89							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTCAGAAGGGTTTCTCTCAG	0.438000													12	33					0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109840162	109840162	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:109840162C>T	ENST00000357155.1	-	3	361	c.312G>A	c.(310-312)ggG>ggA	p.G104G	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	104	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGTCTTGCTCCCCATTCCGCA	0.592000													18	59					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786633	160786633	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:160786633C>T	ENST00000498165.1	+	4	872	c.771C>T	c.(769-771)gtC>gtT	p.V257V	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Silent_p.V78V|PPM1L_ENST00000295839.9_Silent_p.V130V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	257	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CCTGGAGGGTCCAGGGAATCC	0.512000													10	21					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53112163	53112163	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:53112163C>T	ENST00000375442.4	+	1	615	c.483C>T	c.(481-483)gaC>gaT	p.D161D		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	161					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGTTAGTTGACCCGAAGAGCA	0.587000													3	10					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528829	57528829	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:57528829C>T	ENST00000420713.1	+	4	774	c.662C>T	c.(661-663)tCc>tTc	p.S221F		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGTGGCAAATCCTTTAACTGC	0.383000													5	17					0	0	1	0	0
JAZF1	221895	broad.mit.edu	37	7	27934844	27934844	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:27934844G>A	ENST00000283928.5	-	3	545	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	127					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CTCACCTGTCGGAGTGCTGCT	0.622000			T	SUZ12	endometrial stromal tumours								3	20					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106322144	106322144	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:106322144C>T	ENST00000390559.2	-	0	179																											TGCCCCCTCTCAGGACTGATG	0.582000													10	37					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751961	27751961	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:27751961C>T	ENST00000261588.4	+	15	2362	c.2343C>T	c.(2341-2343)ccC>ccT	p.P781P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	781										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCGAGAAGCCCCTGGCCTGGA	0.622000													30	94					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78770709	78770709	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:78770709G>A	ENST00000258886.8	+	10	1415	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	422							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GAAATGACCAGAATTCTTCAG	0.383000													11	30					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26623663	26623663	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:26623663C>T	ENST00000354550.4	-	3	1472	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380582.3_Intron	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CAATCCATTCCCCTCTGTCCA	0.378000													13	72					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043797	20043797	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:20043797C>T	ENST00000570682.1	-	2	622	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	108						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GATGAGAATTCCAGCACTTCT	0.463000													22	52					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76463644	76463644	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:76463644G>A	ENST00000396423.2	+	4	498	c.374G>A	c.(373-375)aGa>aAa	p.R125K	HNF4G_ENST00000354370.1_Missense_Mutation_p.R88K	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	88					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GAACGTGACAGAATAAGCACC	0.418000													8	37					0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514186	69514186	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:69514186G>A	ENST00000294312.3	-	3	1260	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	165					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GCATGGGCAGGAAATGAGAGA	0.587000													30	140					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	92979427	92979427	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:92979427G>A	ENST00000370331.1	-	18	2228	c.2219C>T	c.(2218-2220)tCc>tTc	p.S740F	EVI5_ENST00000540033.1_Missense_Mutation_p.S740F|EVI5_ENST00000543509.1_Missense_Mutation_p.S751F	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	740	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTCATCGGAGGAATGGAATGA	0.448000													11	34					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507313	155507313	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:155507313C>T	ENST00000302053.3	-	5	1346	c.1268G>A	c.(1267-1269)gGg>gAg	p.G423E	FGA_ENST00000403106.3_Missense_Mutation_p.G423E	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	423					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCCTTGTCCCTGGACTTAC	0.502000													40	192					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34638215	34638215	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:34638215G>A	ENST00000537011.1	+	2	461	c.79G>A	c.(79-81)Gag>Aag	p.E27K	NUTM1_ENST00000333756.4_5'UTR|NUTM1_ENST00000438749.3_Intron					NUT midline carcinoma, family member 1																		GCCCAAACCTGAGAGGATGGC	0.542000													21	74					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	32					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073119	15073119	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:15073119G>A	ENST00000598504.1	-	8	1989	c.630C>T	c.(628-630)acC>acT	p.T210T	SLC1A6_ENST00000544886.2_Silent_p.T210T|SLC1A6_ENST00000430939.2_Silent_p.T146T|SLC1A6_ENST00000221742.3_Silent_p.T210T|SLC1A6_ENST00000600144.1_Silent_p.T210T	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	210					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCCTCACCATGGTCCTGGTTA	0.542000													23	84					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188086	152188086	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:152188086C>T	ENST00000368801.2	-	3	6094	c.6019G>A	c.(6019-6021)Gga>Aga	p.G2007R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2007					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTAGATCCATGTTGACCG	0.557000													83	779					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4872467	4872467	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:4872467G>A	ENST00000252318.2	+	8	1745	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	470						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCACTCCGGGAAAAACTGAA	0.393000													15	65					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995255	32995255	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:32995255C>T	ENST00000330953.5	+	2	509	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	114					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						AAGATGATTTCCTGGATGTAC	0.483000													39	169					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27287980	27287980	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:27287980C>T	ENST00000317338.12	-	6	1680	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	SEZ6_ENST00000360295.9_Missense_Mutation_p.G418R|SEZ6_ENST00000442608.3_Missense_Mutation_p.G418R|SEZ6_ENST00000335960.6_Missense_Mutation_p.G418R|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	418	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGGATCACTCCGCCGCAAGCA	0.607000													42	157					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51395391	51395391	+	Splice_Site	SNP	G	G	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:51395391G>T	ENST00000266037.9	+	46	4790		c.e46-1			NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GACTCTGATAGGTTCATGTCC	0.493000													9	63					4.68919e-08	4.72579e-08	1	1	0
TIGD4	201798	broad.mit.edu	37	4	153691685	153691685	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:153691685G>A	ENST00000304337.2	-	2	1292	c.472C>T	c.(472-474)Cct>Tct	p.P158S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	158					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACAGTCGAAGGGTCTACTGGT	0.358000													17	27					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	863796	863796	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:863796G>A	ENST00000316157.3	-	14	1604	c.1564C>T	c.(1564-1566)Cct>Tct	p.P522S		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	522							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGCGACGGAGGCTTTGGTGGC	0.557000													24	69					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650776	121650776	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:121650776C>T	ENST00000393386.2	+	12	2087	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S559F	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	559					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGCAGAATCCTTAAATACA	0.433000													26	41					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761937	96761937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:96761937G>A	ENST00000295266.4	+	1	699	c.636G>A	c.(634-636)tgG>tgA	p.W212*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	212					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CAGCTTTATGGAAATTACCTT	0.428000													14	52					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142650981	142650981	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:142650981C>T	ENST00000355265.2	-	9	1461	c.987G>A	c.(985-987)ctG>ctA	p.L329L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	329					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGAAGGGCTCAGGGACATCG	0.537000													40	191					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69400281	69400281	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:69400281G>A	ENST00000337103.4	+	4	2019	c.427G>A	c.(427-429)Gat>Aat	p.D143N	C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.D168N|C8orf34_ENST00000518698.1_Missense_Mutation_p.D254N|C8orf34_ENST00000539993.1_Missense_Mutation_p.D168N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	168					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGATGAACTCGATAAGGTAAG	0.274000													3	14					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281723	103281723	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:103281723C>T	ENST00000233969.2	+	3	1060	c.918C>T	c.(916-918)atC>atT	p.I306I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	306						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCCATAATATCCGAGTGATCG	0.448000													16	77					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990574	63990574	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:63990574C>T	ENST00000370657.4	-	4	915	c.882G>A	c.(880-882)agG>agA	p.R294R	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	294					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATTATATTTCCTTGCCACTT	0.418000													33	28					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157323	14157323	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:14157323C>T	ENST00000263379.2	+	8	1159	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	345	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CAACCGGGGCCTGGGGAACCA	0.637000													38	136					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531497	150531497	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:150531497G>A	ENST00000271643.4	+	16	2855	c.2619G>A	c.(2617-2619)ggG>ggA	p.G873G	ADAMTSL4_ENST00000369038.2_Silent_p.G873G|ADAMTSL4_ENST00000369039.5_Silent_p.G896G	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	873	TSP type-1 4.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTGGGAGTGGGGCAGCCCTCG	0.701000													5	29					0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55250568	55250568	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:55250568G>A	ENST00000308796.6	+	3	161	c.115G>A	c.(115-117)Gat>Aat	p.D39N	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.D34N	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	39	Thr-rich.					extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						tcctgctgatgatgaagcccc	0.502000													4	9					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96495130	96495130	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:96495130G>A	ENST00000285979.6	+	9	1601	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Missense_Mutation_p.D409N	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AAAGGATATTGACATCACCCC	0.498000													41	92					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676613	123676613	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:123676613C>T	ENST00000309154.2	-	1	482	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGGAAGGCTCCCACCCAGCAT	0.498000													10	34					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180846525	180846525	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:180846525G>C	ENST00000410053.3	-	5	705	c.406C>G	c.(406-408)Cct>Gct	p.P136A	CWC22_ENST00000295749.6_Missense_Mutation_p.P136A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	136						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AGCTTTGCAGGGGGAATATAT	0.398000													6	28					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193188722	193188722	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:193188722C>A	ENST00000342695.4	-	9	1191	c.869G>T	c.(868-870)gGg>gTg	p.G290V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G290V|ATP13A4_ENST00000295548.3_Missense_Mutation_p.G290V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	290					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACTTTGTTCCCTGTCAAAAT	0.483000													42	132					8.68246e-10	8.78451e-10	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767503	77767503	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:77767503G>A	ENST00000521891.2	+	10	8794	c.8346G>A	c.(8344-8346)gaG>gaA	p.E2782E	ZFHX4_ENST00000518282.1_Silent_p.E2756E|ZFHX4_ENST00000455469.2_Silent_p.E2737E|ZFHX4_ENST00000050961.6_Silent_p.E2737E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2737						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGATGTAGAGAATTTAAATG	0.428000										HNSCC(33;0.089)			7	23					0	0	1	0	0
NMRK2	27231	broad.mit.edu	37	19	3937267	3937267	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:3937267C>T	ENST00000168977.2	+	4	437	c.147C>T	c.(145-147)gaC>gaT	p.D49D	NMRK2_ENST00000599576.1_Silent_p.D40D|NMRK2_ENST00000593949.1_Silent_p.D54D	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		TTGGGGAAGACGGCTTCAAAC	0.627000													7	26					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37443126	37443126	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:37443126C>T	ENST00000373451.4	+	19	2138	c.1974C>T	c.(1972-1974)atC>atT	p.I658I		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		658					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						TCAGTGCCATCCACATCCTCG	0.602000													4	15					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73137988	73137988	+	Silent	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:73137988C>G	ENST00000541685.1	-	9	942	c.930G>C	c.(928-930)acG>acC	p.T310T	DPF3_ENST00000556509.1_Intron|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Silent_p.T320T	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	139					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATAAGTCCTCCGTGGTACGTG	0.532000													19	48					0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805832	77805832	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:77805832G>A	ENST00000380345.2	-	4	880	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	LHFPL2_ENST00000515007.2_Missense_Mutation_p.R69W	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	69						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		CCTGGGTTCCGGATGCAGCGG	0.736000													7	24					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175232	57175232	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:57175232G>A	ENST00000537055.2	-	2	1566	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCAGGTGTAGGGCCGCTCGC	0.677000													37	62					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955729	18955729	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:18955729C>T	ENST00000302797.3	-	1	827	c.603G>A	c.(601-603)agG>agA	p.R201R	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	201					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						CACAGAGAATCCTGATCAGCA	0.522000													5	44					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177605183	177605183	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:177605183C>T	ENST00000280193.2	-	7	1572	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	386					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CGTACATGGCCGTCTGTAACA	0.408000													11	46					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227399	35227399	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:35227399G>A	ENST00000339480.1	+	2	914	c.544G>A	c.(544-546)Gag>Aag	p.E182K	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	182					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCGGCCCACGGAGAAGAAGGT	0.577000													10	39					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33498383	33498383	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:33498383G>A	ENST00000268876.5	+	13	1835	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M	UNC45B_ENST00000378449.1_Missense_Mutation_p.V499M|UNC45B_ENST00000591048.1_Missense_Mutation_p.V499M|UNC45B_ENST00000433649.1_Missense_Mutation_p.V578M|UNC45B_ENST00000394570.2_Missense_Mutation_p.V578M	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	580					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CACCACCCTGGTGAACTGCAC	0.557000											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	87					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046630	9046630	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9046630C>T	ENST00000397910.4	-	5	35204	c.35001G>A	c.(34999-35001)ggG>ggA	p.G11667G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11669	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTCTGTGTCCCAGGATGGG	0.517000													18	73					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089904	9089904	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:9089904G>A	ENST00000397910.4	-	1	2114	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	637	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S637S(2)		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						TCAAATCTGCGGATGTCTCAG	0.582000													18	93					0	0	1	0	0
LOC647323	647323	broad.mit.edu	37	3	193711246	193711246	+	RNA	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:193711246C>T	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						AATCATCCTCCTGTGAGTGGT	0.498000													9	25					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169060731	169060731	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:169060731G>A	ENST00000359299.3	+	3	381	c.195_splice	c.e3+1	p.R65_splice		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	65							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TGTATGGCCGGGTAAGGCCAC	0.428000													13	27					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613832	14613832	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:14613832T>A	ENST00000544627.1	+	9	2906	c.2586T>A	c.(2584-2586)agT>agA	p.S862R	ATF7IP_ENST00000536444.1_Missense_Mutation_p.S853R|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S853R|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S854R|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S854R			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	854					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CCAGTCCTAGTATTCAAAGGA	0.488000													44	108					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95279520	95279520	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:95279520G>A	ENST00000371485.3	+	8	1451	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	CEP55_ENST00000496302.1_3'UTR	NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	383	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AATTCTTAAGGAGCTCCGAAA	0.373000													12	45					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32039998	32039998	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:32039998C>T	ENST00000375244.3	-	13	4960	c.4759G>A	c.(4759-4761)Gat>Aat	p.D1587N	TNXB_ENST00000375247.2_Missense_Mutation_p.D1587N			P22105	TENX_HUMAN	tenascin XB	1669	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGTTATATCCGTCACTGTC	0.602000													10	30					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48292628	48292628	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:48292628C>T	ENST00000285737.4	+	4	793	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	LONP2_ENST00000535754.1_Missense_Mutation_p.P190S	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	234					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AACCAGAAAACCCAAGCAAGA	0.348000													24	81					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824745	74824745	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:74824745C>T	ENST00000256362.4	+	2	1500	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	420					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ACACTGGTACCCTATCGCTGC	0.572000													19	84					0	0	1	0	0
MRPL13	28998	broad.mit.edu	37	8	121457313	121457313	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:121457313G>A	ENST00000306185.3	-	1	313	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	8					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	p.P8S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTCACCTGGGGCGCCCTAGAG	0.567000													24	116					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060332	111060332	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:111060332C>T	ENST00000369771.2	-	1	1465	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	360						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ATCTGCAGCCCCTTGGAGTGG	0.572000													29	94					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880459	15880459	+	RNA	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:15880459G>A	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							CAGTGCTCCTGGTATTCTGGG	0.597000													9	56					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676915	2676915	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:2676915C>T	ENST00000399655.1	+	13	2115	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	CACNA1C_ENST00000399637.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S617F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S642F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S617F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S617F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S617F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S617F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S617F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S617F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	617					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGGGCATCTCCGTGCTCAGA	0.562000													10	22					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108276515	108276515	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:108276515C>T	ENST00000520734.1	-	7	955	c.670G>A	c.(670-672)Gat>Aat	p.D224N	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.D223N			Q15389	ANGP1_HUMAN	angiopoietin 1	424					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTGCTGAAATCAGCACCGTGT	0.408000													14	56					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233297093	233297093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:233297093C>T	ENST00000258229.8	-	18	3524	c.3290G>A	c.(3289-3291)tGg>tAg	p.W1097*	PCNXL2_ENST00000488780.2_Nonsense_Mutation_p.W230*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1097						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGAGATCCCATTTTAAGAC	0.473000													7	48					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21890535	21890535	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:21890535G>A	ENST00000374840.3	+	6	724	c.472_splice	c.e6-1	p.G158_splice	ALPL_ENST00000540617.1_Splice_Site_p.G103_splice|ALPL_ENST00000374832.1_Splice_Site_p.G158_splice|ALPL_ENST00000539907.1_Splice_Site_p.G81_splice|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Splice_Site_p.G158_splice	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	158					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GCACCCCAGGGAAATCTGTGG	0.647000													7	37					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3124597	3124597	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:3124597C>T	ENST00000381075.2	+	3	250	c.26C>T	c.(25-27)cCg>cTg	p.P9L	PFKP_ENST00000381125.4_Missense_Mutation_p.R44C	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	0					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CGCTGCCGTCCGTGCCGTGGT	0.592000													11	52					0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074847	106074847	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:106074847G>A	ENST00000278071.2	-	3	1415	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ITPRIP_ENST00000358187.2_Silent_p.F321F|ITPRIP_ENST00000337478.1_Silent_p.F321F	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	321						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AGGCCAGGTCGAACTCGTACT	0.577000													16	73					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3200906	3200906	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:3200906G>A	ENST00000520002.1	-	24	4099	c.3544C>T	c.(3544-3546)Ctg>Ttg	p.L1182L	CSMD1_ENST00000537824.1_Silent_p.L1181L|CSMD1_ENST00000602723.1_Silent_p.L1182L|CSMD1_ENST00000400186.3_Silent_p.L1182L|CSMD1_ENST00000602557.1_Silent_p.L1182L|CSMD1_ENST00000542608.1_Silent_p.L1181L|CSMD1_ENST00000539096.1_Silent_p.L1181L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1182	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTAGGATCAGCCCCAGAAGT	0.448000													8	36					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74353459	74353459	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:74353459T>A	ENST00000226355.3	+	6	727	c.634T>A	c.(634-636)Tat>Aat	p.Y212N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	212	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTCACACAATATTTAAAAGC	0.294000													10	28					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4903027	4903027	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:4903027G>T	ENST00000396658.4	+	1	812	c.109G>T	c.(109-111)Gac>Tac	p.D37Y	UBN1_ENST00000262376.6_Missense_Mutation_p.D37Y|UBN1_ENST00000545171.1_Missense_Mutation_p.D37Y|UBN1_ENST00000590769.1_Missense_Mutation_p.D37Y	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	37	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ACAGCATCAGGACTGTGAGCC	0.562000													12	70					7.93312e-07	7.97947e-07	1	1	0
VAV1	7409	broad.mit.edu	37	19	6833197	6833197	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:6833197C>T	ENST00000304076.2	+	16	1605	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	VAV1_ENST00000539284.1_Missense_Mutation_p.S407F|VAV1_ENST00000596764.1_Missense_Mutation_p.S472F|VAV1_ENST00000602142.1_Missense_Mutation_p.S504F|VAV1_ENST00000599806.1_Missense_Mutation_p.S449F	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	504	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCCAGCTCCAACATCTAT	0.433000													7	34					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192669	152192669	+	Missense_Mutation	SNP	G	G	A	rs139476726		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:152192669G>A	ENST00000368801.2	-	3	1511	c.1436C>T	c.(1435-1437)aCt>aTt	p.T479I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	479					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGCTGAGTGTAACCAGA	0.542000													54	271					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34220242	34220242	+	Silent	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:34220242C>G	ENST00000317619.3	-	6	769	c.375G>C	c.(373-375)ggG>ggC	p.G125G	CPNE1_ENST00000352393.4_Silent_p.G125G|CPNE1_ENST00000397445.1_Silent_p.G125G|CPNE1_ENST00000397446.1_Silent_p.G125G|CPNE1_ENST00000317677.5_Silent_p.G130G|CPNE1_ENST00000397442.1_Silent_p.G125G|CPNE1_ENST00000397443.1_Silent_p.G125G			Q99829	CPNE1_HUMAN	copine I	125					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCGTGATGGTCCCCCGCCCAG	0.527000													10	24					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896248	153896248	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:153896248C>T	ENST00000511601.1	+	12	1993	c.1805C>T	c.(1804-1806)cCt>cTt	p.P602L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P602L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	602					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCACACAAACCTCAGGCCTCG	0.697000													42	176					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67038030	67038030	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:67038030C>T	ENST00000540947.2	+	9	1167	c.983C>T	c.(982-984)cCa>cTa	p.P328L	CES4A_ENST00000338718.4_Missense_Mutation_p.P351L|CES4A_ENST00000541479.1_Missense_Mutation_p.P351L|CES4A_ENST00000535696.1_Missense_Mutation_p.P234L|CES4A_ENST00000398354.1_Missense_Mutation_p.P328L|CES4A_ENST00000540579.1_Missense_Mutation_p.P230L|CES4A_ENST00000326686.5_Missense_Mutation_p.P328L	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	328						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GTGGTGATCCCAGATGACCCT	0.522000													39	123					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30129681	30129681	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:30129681A>G	ENST00000484663.1	-	2	1323	c.190T>C	c.(190-192)Tgc>Cgc	p.C64R	MAPK3_ENST00000403394.1_Missense_Mutation_p.C178R|MAPK3_ENST00000322266.5_Missense_Mutation_p.C178R|MAPK3_ENST00000395200.1_Missense_Mutation_p.C149R|MAPK3_ENST00000263025.4_Missense_Mutation_p.C178R|MAPK3_ENST00000395199.3_Missense_Mutation_p.C178R|MAPK3_ENST00000395202.1_Missense_Mutation_p.C178R			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	178	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TTAAGGTCGCAGGTGGTGTTG	0.587000													3	37					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117252575	117252575	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:117252575C>T	ENST00000332958.2	+	19	2709	c.2693C>T	c.(2692-2694)aCc>aTc	p.T898I		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	898					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCTCAAGAAACCCTGGACTCC	0.453000													20	31					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23779235	23779235	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:23779235G>A	ENST00000336689.3	-	4	422	c.378C>T	c.(376-378)ttC>ttT	p.F126F	ASAP3_ENST00000437606.2_Silent_p.F126F	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	126					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGTCCAGGGGGAAAGAGACAA	0.562000													45	116					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14794032	14794032	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:14794032G>A	ENST00000261170.3	-	18	2188	c.2052C>T	c.(2050-2052)agC>agT	p.S684S		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	684	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GGTCCCGACAGCTCAAAGTGT	0.498000													14	47					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579307	33579307	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr12:33579307T>G	ENST00000228567.3	-	2	571	c.275A>C	c.(274-276)aAc>aCc	p.N92T	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	92						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CGTAGTGATGTTGGAAGTCAC	0.428000													10	21					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100257989	100257989	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr9:100257989C>G	ENST00000355295.4	+	17	3416	c.3121C>G	c.(3121-3123)Cga>Gga	p.R1041G	TDRD7_ENST00000540902.1_Missense_Mutation_p.R361G|TDRD7_ENST00000422139.2_Missense_Mutation_p.R967G	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1041	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TATGGTGTTTCGAAATCATGT	0.488000													25	102					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32914104	32914104	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr22:32914104G>A	ENST00000358763.2	-	13	1778	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Silent_p.P512P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	512	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTGCACAGGGGGCCGGGGCT	0.622000													24	99					0	0	1	0	0
OGFOD1	55239	broad.mit.edu	37	16	56501149	56501149	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:56501149C>T	ENST00000566157.1	+	7	853	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	OGFOD1_ENST00000568397.1_Intron	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	244							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R244R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	ATCATTGACTCGGCCTCCCAA	0.463000													42	102					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141751568	141751568	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:141751568G>A	ENST00000389484.3	-	16	3611	c.2640C>T	c.(2638-2640)aaC>aaT	p.N880N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	880	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATACAGCAGTTTACTGAAT	0.423000										TSP Lung(27;0.18)			15	50					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883871	19883871	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:19883871G>A	ENST00000300571.2	-	2	488	c.297C>T	c.(295-297)ttC>ttT	p.F99F	GPRC5B_ENST00000569479.1_Silent_p.F99F|GPRC5B_ENST00000569847.1_Silent_p.F99F|GPRC5B_ENST00000537135.1_Silent_p.F125F|GPRC5B_ENST00000535671.1_Silent_p.F99F	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	99										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCCCCAGGAGGAACAGAAAGT	0.607000													9	41					0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297289	144297289	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:144297289G>A	ENST00000330824.2	+	4	526	c.451G>A	c.(451-453)Ggc>Agc	p.G151S		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	151					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGACCCAACAGGCAAGGGGGC	0.677000													17	59					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10651259	10651259	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:10651259C>T	ENST00000547195.1	-	4	628		c.e4-1		MRVI1_ENST00000421747.1_Splice_Site|MRVI1_ENST00000531107.1_Splice_Site|MRVI1_ENST00000552103.1_Splice_Site|MRVI1_ENST00000424001.1_Splice_Site|MRVI1_ENST00000532037.1_Splice_Site|MRVI1_ENST00000436272.1_Splice_Site|MRVI1_ENST00000545852.1_Splice_Site|MRVI1_ENST00000527509.2_Splice_Site|MRVI1_ENST00000541483.1_Splice_Site|MRVI1_ENST00000558540.1_Splice_Site|MRVI1_ENST00000423302.2_Splice_Site|MRVI1_ENST00000534266.2_Splice_Site	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog						platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CCCGCGGGGTCTGCAGAAGGA	0.592000													5	23					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12077410	12077410	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:12077410G>A	ENST00000356352.2	-	1	486	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	UPF2_ENST00000397053.2_Missense_Mutation_p.R5C|UPF2_ENST00000357604.5_Missense_Mutation_p.R5C|UPF2_ENST00000460569.1_5'UTR			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	5					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGCTTTTTACGCTCAGCTGGC	0.408000													5	83					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50402202	50402202	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:50402202G>A	ENST00000435965.1	-	39	3530	c.3357C>T	c.(3355-3357)ttC>ttT	p.F1119F	XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000429770.1_Silent_p.F1110F|CACNA2D2_ENST00000424201.2_Silent_p.F1109F|CACNA2D2_ENST00000395083.1_Silent_p.F1112F|CACNA2D2_ENST00000360963.3_Silent_p.F1042F|CACNA2D2_ENST00000479441.1_Silent_p.F1116F|CACNA2D2_ENST00000423994.2_Silent_p.F1119F|CACNA2D2_ENST00000266039.3_Silent_p.F1111F			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1116					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCGACGGCGGGAAGGAGGCCC	0.721000													3	15					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170425747	170425747	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:170425747G>A	ENST00000453153.2	-	3	739	c.393C>T	c.(391-393)gcC>gcT	p.A131A	FASTKD1_ENST00000453929.2_Silent_p.A131A	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	131					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GCGGGTCATGGGCCTCACCAG	0.378000													32	107					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13780996	13780996	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:13780996G>A	ENST00000265104.4	-	53	8997	c.8893C>T	c.(8893-8895)Ctg>Ttg	p.L2965L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2965	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACCTCGTCAGGCTCTGCTTT	0.463000									Kartagener syndrome				5	27					0	0	1	0	0
IL17C	27189	broad.mit.edu	37	16	88706248	88706248	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:88706248C>T	ENST00000244241.4	+	3	411	c.362C>T	c.(361-363)cCa>cTa	p.P121L		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	121					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GACCGCTATCCACAGAAGCTG	0.672000													3	4					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402088	9402088	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:9402088G>A	ENST00000378501.2	+	23	2278	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K	PLCB4_ENST00000278655.4_Missense_Mutation_p.E755K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E767K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E755K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E755K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E767K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	755	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTACAATGAAGAGTCATTTGT	0.423000													16	54					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564181	8564181	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:8564181C>T	ENST00000423345.4	-	2	1031	c.511G>A	c.(511-513)Gac>Aac	p.D171N	PRAM1_ENST00000255612.3_Missense_Mutation_p.D171N			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	219	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGAGTTCGTCGGGCTGCAGG	0.687000													7	25					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35287294	35287294	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:35287294C>T	ENST00000278379.3	-	10	1715	c.1433G>A	c.(1432-1434)aGa>aAa	p.R478K	SLC1A2_ENST00000606205.1_Missense_Mutation_p.R478K|SLC1A2_ENST00000395753.1_Missense_Mutation_p.R469K|SLC1A2_ENST00000395750.1_Missense_Mutation_p.R469K|SLC1A2_ENST00000479543.1_5'UTR	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	478					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GACTGAAGTTCTCATCCTGTC	0.488000													13	40					0	0	1	0	0
ZNF691	51058	broad.mit.edu	37	1	43317339	43317339	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:43317339C>T	ENST00000372504.1	+	5	1126	c.776C>T	c.(775-777)tCc>tTc	p.S259F	ZNF691_ENST00000372506.1_Missense_Mutation_p.S237F|ZNF691_ENST00000372502.1_Missense_Mutation_p.S259F|ZNF691_ENST00000397044.3_Missense_Mutation_p.S268F|ZNF691_ENST00000372508.3_Missense_Mutation_p.S237F|ZNF691_ENST00000372507.1_Missense_Mutation_p.S237F			Q5VV52	ZN691_HUMAN	zinc finger protein 691	268						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCGATATCTCCAACTTTGGA	0.582000													12	44					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133740183	133740183	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:133740183C>T	ENST00000356838.3	-	6	622	c.480G>A	c.(478-480)aaG>aaA	p.K160K	TMEM71_ENST00000523829.1_Silent_p.K179K|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	179						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTGCATTCATCTTCCCTGACT	0.488000													18	65					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155838526	155838526	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:155838526G>A	ENST00000368324.4	+	2	1058	c.805G>A	c.(805-807)Gac>Aac	p.D269N	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	269						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGCAGGGGTGGACCCCAGCAC	0.562000													18	34					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167289094	167289094	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:167289094C>T	ENST00000409855.1	-	15	2452	c.2326G>A	c.(2326-2328)Gac>Aac	p.D776N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	776					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCCATTGTGTCCTTTGGGACA	0.338000													28	71					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99473511	99473511	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:99473511C>T	ENST00000268035.6	+	15	3544	c.2933C>T	c.(2932-2934)cCg>cTg	p.P978L	IGF1R_ENST00000558762.1_Missense_Mutation_p.P977L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	978					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTGTGAACCCGGAGTACTTC	0.517000													6	8					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228492251	228492251	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:228492251C>T	ENST00000570156.2	+	53	14324	c.14250C>T	c.(14248-14250)gcC>gcT	p.A4750A	OBSCN_ENST00000366707.4_Silent_p.A1440A|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3793					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACCTCAGCCACACTCACGA	0.562000													19	91					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305841	54305841	+	Silent	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr15:54305841T>C	ENST00000545554.1	+	1	741	c.741T>C	c.(739-741)ttT>ttC	p.F247F	UNC13C_ENST00000260323.11_Silent_p.F247F|UNC13C_ENST00000537900.1_Silent_p.F247F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	247					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAATGATCTTTAAGGAACTTC	0.468000													16	58					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41419837	41419837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:41419837G>A	ENST00000373198.3	-	3	719	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Q162*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q162*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q162*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q162*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q162*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q162*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	162	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCCATACCTGATAGAAATGT	0.468000													36	143					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212773	26212773	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:26212773C>T	ENST00000379034.1	+	2	959	c.810C>T	c.(808-810)ctC>ctT	p.L270L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	270	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGCTAGGCCTCCCCAGTGAAG	0.527000													30	49					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228553833	228553833	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:228553833C>T	ENST00000570156.2	+	94	22067	c.21993C>T	c.(21991-21993)gcC>gcT	p.A7331A	OBSCN_ENST00000366707.4_Silent_p.A4008A|OBSCN_ENST00000422127.1_Silent_p.A6374A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6374					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGGAACGGCCCAATTCGAGG	0.637000													19	78					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226476	23226476	+	Missense_Mutation	SNP	G	G	C	rs143742457		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:23226476G>C	ENST00000300061.2	+	13	1779	c.1636G>C	c.(1636-1638)Gtc>Ctc	p.V546L		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	546					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTTGTCTGCGTCATCGAGAT	0.552000													15	55					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120007815	120007815	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:120007815C>T	ENST00000371311.3	-	2	1089	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	279										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCTTTCTCTTCCTCGCCTGCA	0.458000													139	171					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677204	7677204	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:7677204G>A	ENST00000446248.2	+	13	2007	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E609K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	609					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCGGCTGGAGGAGAAACGCAG	0.682000													3	19					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577539	162577539	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:162577539G>A	ENST00000306100.5	-	7	1271	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Missense_Mutation_p.P278S|FSTL5_ENST00000536695.1_Missense_Mutation_p.P278S|FSTL5_ENST00000379164.4_Missense_Mutation_p.P278S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	279	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGATAATGGGAGGTCTCAGG	0.368000													15	41					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60563046	60563046	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:60563046G>C	ENST00000308287.1	+	6	607	c.511G>C	c.(511-513)Gag>Cag	p.E171Q		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	171						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CCAGAGGCTGGAGCTGGCCTT	0.612000													7	28					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220090285	220090285	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:220090285G>A	ENST00000409618.1	-	6	661	c.222C>T	c.(220-222)ctC>ctT	p.L74L	ATG9A_ENST00000361242.4_Silent_p.L74L|ATG9A_ENST00000396761.2_Silent_p.L74L|ATG9A_ENST00000409422.1_Silent_p.L13L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	74					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACCACAAAGAGGAACTGCC	0.547000													7	38					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6214931	6214931	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:6214931C>T	ENST00000262450.3	-	5	633	c.534G>A	c.(532-534)aaG>aaA	p.K178K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	178					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACATGGGGATCTTCGGGTTCT	0.657000													13	60					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27284212	27284212	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:27284212G>A	ENST00000358918.3	-	14	1949	c.1750C>T	c.(1750-1752)Cca>Tca	p.P584S	APP_ENST00000346798.3_Missense_Mutation_p.P584S|APP_ENST00000359726.3_Missense_Mutation_p.P528S|APP_ENST00000354192.3_Missense_Mutation_p.P453S|APP_ENST00000448388.2_Missense_Mutation_p.P474S|APP_ENST00000440126.3_Missense_Mutation_p.P560S|APP_ENST00000439274.2_Missense_Mutation_p.P528S|APP_ENST00000348990.5_Missense_Mutation_p.P509S|APP_ENST00000357903.3_Missense_Mutation_p.P565S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	584					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTGATCCTTGGTTCACTAATC	0.458000													12	28					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396988	197396988	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:197396988G>A	ENST00000367397.1	+	3	1534	c.676G>A	c.(676-678)Ggt>Agt	p.G226S	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.G776S|CRB1_ENST00000544212.1_Missense_Mutation_p.G326S|CRB1_ENST00000367400.3_Missense_Mutation_p.G845S|CRB1_ENST00000367399.2_Missense_Mutation_p.G733S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	845	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGAACTTAATGGTGGATTCTT	0.388000													12	50					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960904	106960904	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr10:106960904G>A	ENST00000369701.3	+	16	2381	c.2154G>A	c.(2152-2154)agG>agA	p.R718R	SORCS3_ENST00000369699.4_Silent_p.R4R	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	718						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGGAGAAAGGAAAATATTCA	0.463000													10	24					0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3712001	3712001	+	Missense_Mutation	SNP	C	C	T	rs145014945		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:3712001C>T	ENST00000575671.1	-	11	2029	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000538171.1_Missense_Mutation_p.E590K|TRAP1_ENST00000246957.5_Missense_Mutation_p.E643K|DNASE1_ENST00000575152.1_3'UTR			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	643					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GGGTTGATCTCCAGCGTGGGC	0.622000													14	25					0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1370212	1370212	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:1370212C>T	ENST00000355803.4	+	5	812	c.261C>T	c.(259-261)taC>taT	p.Y87Y	LA16c-358B7.3_ENST00000567829.1_RNA|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000566587.1_Silent_p.Y87Y|UBE2I_ENST00000397515.2_Silent_p.Y87Y|UBE2I_ENST00000325437.5_Silent_p.Y87Y|UBE2I_ENST00000406620.1_Silent_p.Y87Y|UBE2I_ENST00000397514.3_Silent_p.Y87Y|UBE2I_ENST00000403747.2_Silent_p.Y87Y|UBE2I_ENST00000402301.1_Silent_p.Y87Y	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	87				VYPS -> GVPF (in Ref. 6; AAC50603).	cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CGAATGTGTACCCTTCGGGGA	0.552000													8	48					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27745336	27745336	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:27745336G>A	ENST00000264717.2	+	18	1645	c.1582G>A	c.(1582-1584)Gga>Aga	p.G528R	GCKR_ENST00000424318.2_Missense_Mutation_p.G338R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	528					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GCGGTTCTCTGGACAGTCCAA	0.512000													17	69					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487870	31487870	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr16:31487870C>T	ENST00000394863.3	+	9	1087	c.957C>T	c.(955-957)ccC>ccT	p.P319P	TGFB1I1_ENST00000567607.1_Silent_p.P302P|TGFB1I1_ENST00000394858.2_Silent_p.P302P|TGFB1I1_ENST00000361773.3_Silent_p.P302P	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	319	LIM zinc-binding 2.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCGGGGAGCCCTTCGGAGATG	0.647000													10	20					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911199	230911199	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:230911199C>T	ENST00000295190.4	-	4	1101	c.643G>A	c.(643-645)Ggt>Agt	p.G215S		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	215						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGGTTTTTACCAGGAGAGAGG	0.552000													21	55					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924695	105924695	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:105924695C>T	ENST00000526793.1	-	3	880	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	KBTBD3_ENST00000534815.1_Missense_Mutation_p.V162M|KBTBD3_ENST00000531837.1_Missense_Mutation_p.V241M	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	237	BACK.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TGTAATCTCACTTTTTCAATC	0.358000													15	49					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1478547	1478547	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr7:1478547G>A	ENST00000297508.7	-	10	2226	c.2051C>T	c.(2050-2052)cCc>cTc	p.P684L	MICALL2_ENST00000405088.4_Missense_Mutation_p.P472L|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	684						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTGGCCAGGGGGCTCCGGCCG	0.672000													16	70					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95733140	95733140	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:95733140C>T	ENST00000311106.3	-	12	1859	c.1622G>A	c.(1621-1623)cGg>cAg	p.R541Q	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.R494Q|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	541					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATGTATCCCGTTCTCTTTC	0.408000													14	34					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1275410	1275410	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:1275410G>A	ENST00000447027.1	+	34	15373	c.15315G>A	c.(15313-15315)atG>atA	p.M5105I	MUC5B_ENST00000529681.1_Missense_Mutation_p.M5102I			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5102	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGTCCTCATGAGAGAGATCC	0.627000													9	55					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090582	184090582	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:184090582A>T	ENST00000204615.7	-	6	995	c.781T>A	c.(781-783)Ttt>Att	p.F261I	THPO_ENST00000445696.2_Missense_Mutation_p.F257I|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.L222H	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	261					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCCAGGAAAGAGTCCACGA	0.557000													42	134					0	0	1	0	0
SERTAD3	29946	broad.mit.edu	37	19	40947918	40947918	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:40947918C>T	ENST00000322354.3	-	2	566	c.70G>A	c.(70-72)Gca>Aca	p.A24T	SERTAD3_ENST00000392028.4_Missense_Mutation_p.A24T	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	24					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAAGGCCTGCTGGACTCCAC	0.607000													10	30					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19327829	19327829	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:19327829G>A	ENST00000252575.5	+	2	110	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	23					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGTGGCTGGGGAACAGGGTGA	0.572000													31	103					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8244168	8244168	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:8244168G>A	ENST00000332175.8	+	15	3450	c.2413G>A	c.(2413-2415)Gct>Act	p.A805T	PTPRM_ENST00000444013.1_Missense_Mutation_p.A592T|PTPRM_ENST00000400053.4_Missense_Mutation_p.A743T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A805T|PTPRM_ENST00000580170.1_Missense_Mutation_p.A805T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	805					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGCGACGAGGCTTTCTCATT	0.488000													17	54					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192667	152192667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:152192667G>A	ENST00000368801.2	-	3	1513	c.1438C>T	c.(1438-1440)Cag>Tag	p.Q480*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	480					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCATGCTGAGTGTAACCA	0.547000													51	277					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10893729	10893729	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:10893729C>T	ENST00000314646.5	+	6	946	c.782C>T	c.(781-783)tCc>tTc	p.S261F	DNM2_ENST00000585892.1_Missense_Mutation_p.S261F|DNM2_ENST00000408974.4_Missense_Mutation_p.S261F|DNM2_ENST00000359692.6_Missense_Mutation_p.S261F|DNM2_ENST00000355667.6_Missense_Mutation_p.S261F|DNM2_ENST00000389253.4_Missense_Mutation_p.S261F			P50570	DYN2_HUMAN	dynamin 2	261					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TTCTTCCTCTCCCACCCGGCC	0.592000			"""F, N, Splice, Mis, O"""		ETP ALL								10	52					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151682955	151682955	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:151682955G>A	ENST00000535741.1	-	35	6098	c.5625C>T	c.(5623-5625)atC>atT	p.I1875I	LRBA_ENST00000510413.1_Silent_p.I1875I|LRBA_ENST00000357115.3_Silent_p.I1875I|LRBA_ENST00000507224.1_Silent_p.I1875I			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1875						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGACAAGTTCGATAAAAGCAA	0.294000													16	69					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859625	38859625	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:38859625C>T	ENST00000264651.2	-	1	377	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	107	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ATCTAGAACTCCCACAGAATC	0.567000													45	149					0	0	1	0	0
ZNF571	51276	broad.mit.edu	37	19	38057121	38057121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:38057121C>T	ENST00000328550.2	-	4	308	c.209G>A	c.(208-210)tGg>tAg	p.W70*	ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000593133.1_Nonsense_Mutation_p.W70*|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000358744.3_Nonsense_Mutation_p.W70*|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Nonsense_Mutation_p.W70*|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATATTCTCCCACTGGAGTGA	0.393000													14	50					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867603	29867603	+	Silent	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr18:29867603G>A	ENST00000399218.4	-	4	1012	c.957C>T	c.(955-957)ccC>ccT	p.P319P	GAREM_ENST00000269209.6_Silent_p.P319P|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CCAGGGTTTCGGGCCAGCTCT	0.532000													17	38					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44128686	44128686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:44128686C>T	ENST00000372396.3	+	5	685	c.551C>T	c.(550-552)tCc>tTc	p.S184F	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	184	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGGAAGACATCCTTTGCTTGG	0.532000													26	114					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872801	39872801	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:39872801C>T	ENST00000502986.2	+	11	1185	c.943C>T	c.(943-945)Cct>Tct	p.P315S	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.P302S	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	302					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TTACATGCCTCCTTCCCATAA	0.463000													11	58					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3451138	3451138	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr4:3451138C>T	ENST00000382774.3	+	14	2075	c.1960C>T	c.(1960-1962)Ccc>Tcc	p.P654S	HGFAC_ENST00000511533.1_Missense_Mutation_p.P661S	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	654					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCTTGTGGCTCCCTCCTGACC	0.647000													14	57					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15364508	15364508	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr19:15364508G>A	ENST00000360016.5	-	12	2534	c.2245C>T	c.(2245-2247)Cgc>Tgc	p.R749C	BRD4_ENST00000263377.2_Intron|BRD4_ENST00000371835.4_Intron			O60885	BRD4_HUMAN	bromodomain containing 4	0					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGAAACCAGCGAAGCATCTCC	0.637000			T	C15orf55	lethal midline carcinoma of young people								11	56					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78272244	78272244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:78272244G>A	ENST00000582970.1	+	11	2279	c.2136G>A	c.(2134-2136)tgG>tgA	p.W712*	RNF213_ENST00000456466.1_Nonsense_Mutation_p.W712*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.W761*|RNF213_ENST00000319921.4_Nonsense_Mutation_p.W712*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	712								p.W712*(2)|p.W761*(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGATGCCTGGAGACAGCCTG	0.582000													16	48					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228564173	228564173	+	Splice_Site	SNP	T	T	C			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:228564173T>C	ENST00000409287.1	-	3	327	c.259_splice	c.e3+1	p.Q86_splice	SLC19A3_ENST00000258403.3_Silent_p.Q86Q|SLC19A3_ENST00000541617.1_Silent_p.Q82Q			Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	86					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AACTGATACCTTGCAAGATGA	0.512000													49	146					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15210698	15210698	+	Silent	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr20:15210698C>T	ENST00000217246.4	+	6	926	c.531C>T	c.(529-531)atC>atT	p.I177I	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Silent_p.I177I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	177	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAATAACATCCGATCAGTTG	0.363000													4	15					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233393058	233393058	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:233393058C>T	ENST00000457943.2	+	4	358	c.59C>T	c.(58-60)tCc>tTc	p.S20F	CHRND_ENST00000543200.1_Silent_p.L95L|CHRND_ENST00000258385.3_Silent_p.L110L|CHRND_ENST00000536614.1_Silent_p.L110L			Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	0					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TGGTGTGGCTCCCAGAGATTG	0.577000													14	74					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48616258	48616258	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr17:48616258C>T	ENST00000268933.3	+	4	1274	c.695C>T	c.(694-696)gCc>gTc	p.A232V	EPN3_ENST00000541226.1_Intron|EPN3_ENST00000537145.1_Intron	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	232						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GTCCCCCCAGCCTCCCACAGG	0.672000													3	20					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526385	84526385	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chrX:84526385C>T	ENST00000360700.4	+	10	2861	c.1975C>T	c.(1975-1977)Cat>Tat	p.H659Y	ZNF711_ENST00000276123.3_Missense_Mutation_p.H613Y|ZNF711_ENST00000373165.3_Missense_Mutation_p.H613Y|ZNF711_ENST00000542798.1_Missense_Mutation_p.H455Y|ZNF711_ENST00000395402.1_Missense_Mutation_p.H621Y			Q9Y462	ZN711_HUMAN	zinc finger protein 711	613					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CATATCTGTCCATACTAAGGA	0.413000													7	7					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38791428	38791428	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:38791428C>T	ENST00000359357.3	+	26	3414	c.3160C>T	c.(3160-3162)Cct>Tct	p.P1054S	DNAH8_ENST00000449981.2_Missense_Mutation_p.P1271S|DNAH8_ENST00000441566.1_Missense_Mutation_p.P1054S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAGTTGAAGCCTATTATTGT	0.328000													8	29					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82991202	82991202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:82991202G>A	ENST00000529689.1	-	2	636	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	CCDC90B_ENST00000455220.2_Nonsense_Mutation_p.Q59*|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000529073.1_Nonsense_Mutation_p.Q68*|CCDC90B_ENST00000529611.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	68						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCCAAGTCCTGAACCAATGCA	0.383000													17	50					0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249144584	249144587	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr1:249144584_249144587delCTGT	ENST00000451251.1	-	12	1742_1745	c.1397_1400delACAG	c.(1396-1401)gtfs	p.DS466fs	ZNF692_ENST00000306601.4_Frame_Shift_Del_p.DS461fs|ZNF692_ENST00000427146.1_Frame_Shift_Del_p.DS416fs|ZNF692_ENST00000366471.3_Frame_Shift_Del_p.DS416fs|ZNF692_ENST00000366469.5_Frame_Shift_Del_p.DS460fs	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTGCAACACTGTCTGGCTTCTC	0.603													25	142	---	---	---	---					
MEMO1	51072	broad.mit.edu	37	2	32117132	32117132	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr2:32117132delC	ENST00000295065.4	-	6	818	c.509delG	c.(508-510)gafs	p.G170fs	MEMO1_ENST00000490459.1_Intron|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Frame_Shift_Del_p.G147fs|MEMO1_ENST00000404530.1_Frame_Shift_Del_p.G170fs|MEMO1_ENST00000379383.3_Frame_Shift_Del_p.G173fs	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	170					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GAAGAGTTTTCCGAATTCCTG	0.353													25	80	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52610608	52610609	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:52610608_52610609insT	ENST00000356770.4	-	21	3545_3546	c.3543_3544insA	c.(3541-3546)aaaagtfs	p.S1182fs	PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.S1214fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.S1214fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.S1189fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.S1229fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.S1229fs|PBRM1_ENST00000296302.7_Frame_Shift_Ins_p.S1214fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.S1189fs			Q86U86	PB1_HUMAN	polybromo 1	1214	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.E1214fs*4(3)|p.E1214*(2)|p.E1182fs*4(1)|p.E1182*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGAAATACTTCTTTTTTGTAGA	0.371			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								12	48	---	---	---	---					
RP11-93K22.13	0	broad.mit.edu	37	3	129811873	129811878	+	RNA	DEL	AAAAAA	AAAAAA	-	rs71158104		TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr3:129811873_129811878delAAAAAA	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							agtctgtcagaaaaaaaaaaaaaaaa	0.383													3	5	---	---	---	---					
SLC30A5	64924	broad.mit.edu	37	5	68413171	68413172	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr5:68413171_68413172insT	ENST00000396591.3	+	11	1997_1998	c.1387_1388insT	c.(1387-1389)tttfs	p.F463fs	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	463					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AGTCATGGGACTTTTTGCTGCC	0.455													19	111	---	---	---	---					
OR2B3	442184	broad.mit.edu	37	6	29055000	29055001	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr6:29055000_29055001insA	ENST00000377173.2	-	1	89_90	c.25_26insT	c.(25-27)aaafs	p.K9fs		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AAACTCTTTTGGGGAGCTCTCA	0.361													7	41	---	---	---	---					
E2F5	1875	broad.mit.edu	37	8	86119688	86119688	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr8:86119688delT	ENST00000418930.2	+	5	775	c.579delT	c.(577-579)ccfs	p.P193fs	E2F5_ENST00000416274.2_Frame_Shift_Del_p.P193fs|E2F5_ENST00000256117.5_Frame_Shift_Del_p.P194fs|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Frame_Shift_Del_p.P20fs|E2F5_ENST00000517476.1_Frame_Shift_Del_p.P32fs			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	193	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TTCAGGCACCTTCTGGTACAC	0.363													2	4	---	---	---	---					
MRE11A	4361	broad.mit.edu	37	11	94204801	94204801	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr11:94204801delA	ENST00000323929.3	-	8	1006	c.784delT	c.(784-786)atfs	p.Y262fs	MRE11A_ENST00000407439.3_Frame_Shift_Del_p.Y265fs|MRE11A_ENST00000323977.3_Frame_Shift_Del_p.Y262fs|MRE11A_ENST00000393241.4_Frame_Shift_Del_p.Y262fs	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	262					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TGTGAGATATAAAACAGCTGT	0.368								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				10	65	---	---	---	---					
CDKN3	1033	broad.mit.edu	37	14	54884632	54884632	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr14:54884632delG	ENST00000556102.2	+	7	581	c.515delG	c.(514-516)cafs	p.R172fs	CDKN3_ENST00000442975.2_Frame_Shift_Del_p.R132fs|CDKN3_ENST00000395577.2_Frame_Shift_Del_p.R126fs|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000335183.6_Frame_Shift_Del_p.R172fs|CDKN3_ENST00000458126.2_Frame_Shift_Del_p.R171fs|CDKN3_ENST00000543789.2_3'UTR			Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3	172					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						GACAGCCTGCGAGACCTAAGA	0.458													2	4	---	---	---	---					
OLIG1	116448	broad.mit.edu	37	21	34442853	34442854	+	In_Frame_Ins	INS	-	-	AGC			TCGA-EB-A5UN-06A-11D-A30X-08	TCGA-EB-A5UN-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b346325-255a-413e-84dd-aac7da338b62	19fdbafd-76b8-4670-97b9-87a99fcb5fb3	g.chr21:34442853_34442854insAGC	ENST00000382348.1	+	1	404_405	c.301_302insAGC	c.(301-303)gca>AGCgca	p.100_101insS	AP000282.2_ENST00000454622.1_RNA|OLIG1_ENST00000333063.5_In_Frame_Ins_p.84_85insS|AP000282.2_ENST00000420356.1_RNA	NM_138983.2	NP_620450.2	Q8TAK6	OLIG1_HUMAN	oligodendrocyte transcription factor 1	100					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CGCCAAGGAGGAGCAGCAGCAG	0.757													4	5	---	---	---	---