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
CACNA1E	777	broad.mit.edu	37	1	181726163	181726163	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:181726163C>T	ENST00000526775.1	+	29	4338	c.4173C>T	c.(4171-4173)ttC>ttT	p.F1391F	CACNA1E_ENST00000367570.1_Silent_p.F1410F|CACNA1E_ENST00000367567.4_Silent_p.F1017F|CACNA1E_ENST00000357570.5_Silent_p.F1361F|CACNA1E_ENST00000360108.3_Silent_p.F1391F|CACNA1E_ENST00000358338.5_Silent_p.F1342F|CACNA1E_ENST00000367573.2_Silent_p.F1410F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1410					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTGGTCTTCCCCTTCTTCT	0.488000													40	21					0	0	0.001287	0	0
MUC16	94025	broad.mit.edu	37	19	9056795	9056795	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9056795G>A	ENST00000397910.4	-	3	30854	c.30651C>T	c.(30649-30651)gcC>gcT	p.A10217A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10219	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						TATACTGTGAGGCTGGAGGCC	0.468000													18	31					0	0	0.001523	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549572	46549572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:46549572G>A	ENST00000242848.4	-	12	2662	c.2314C>T	c.(2314-2316)Cgg>Tgg	p.R772W	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R772W			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	772	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tctcgttcccgttctcgctct	0.512000													42	25					0	0	0.001485	0	0
SCN1A	6323	broad.mit.edu	37	2	166930068	166930068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:166930068G>A	ENST00000423058.2	-	1	81	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	SCN1A_ENST00000303395.4_Missense_Mutation_p.L22F|SCN1A_ENST00000409050.1_Missense_Mutation_p.L22F|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L22F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	22						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATAGCCGCAAGAGATTCTCTG	0.423000													36	71					0	0	0.003755	0	0
DBH	1621	broad.mit.edu	37	9	136505042	136505042	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:136505042G>A	ENST00000393056.2	+	2	426	c.414G>A	c.(412-414)agG>agA	p.R138R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	138	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGGTGCAGAGGACCCCAGAAG	0.612000													22	1					0	0	0.001882	0	0
TMEM39B	55116	broad.mit.edu	37	1	32557514	32557514	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:32557514T>C	ENST00000427288.1	+	7	964	c.484T>C	c.(484-486)Ttc>Ctc	p.F162L	TMEM39B_ENST00000336294.5_Missense_Mutation_p.F277L|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.F78L|TMEM39B_ENST00000456834.2_3'UTR			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	277						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGGTGGAGTTCCTCAAGAT	0.587000													6	36					0	0	0.001168	0	0
HERC2	8924	broad.mit.edu	37	15	28358776	28358776	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:28358776G>A	ENST00000261609.7	-	91	14070	c.13962C>T	c.(13960-13962)gcC>gcT	p.A4654A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4654	HECT.				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)		GCACAACGCGGGCCATTCCTT	0.542000													20	23					0	0	0.003954	0	0
PDILT	204474	broad.mit.edu	37	16	20396091	20396091	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:20396091C>T	ENST00000302451.4	-	3	533	c.285G>A	c.(283-285)ggG>ggA	p.G95G		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	95					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CAAAGCCGATCCCATTCTTGC	0.498000													149	212					0	0	0.003610	0	0
SSRP1	6749	broad.mit.edu	37	11	57099631	57099631	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:57099631G>A	ENST00000278412.2	-	8	1262	c.996C>T	c.(994-996)ttC>ttT	p.F332F		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	332					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCACCCTTGGAAGTTGCCTG	0.562000													21	14					0	0	0.002299	0	0
AP1M2	10053	broad.mit.edu	37	19	10694662	10694662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:10694662C>A	ENST00000590923.1	-	2	210	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	AP1M2_ENST00000250244.6_Nonsense_Mutation_p.E43*			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	43					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			AGGGCGCCTTCCTCCTCCCGC	0.587000													6	7					2.0095e-06	3.69572e-06	0.001984	1	0
ZAN	7455	broad.mit.edu	37	7	100352897	100352897	+	RNA	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:100352897C>T	ENST00000542585.1	+	0	3321				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTCCTGCTTCGTGCAAGAGC	0.567000													182	107					0	0	0.003610	0	0
NPAP1	23742	broad.mit.edu	37	15	24922025	24922025	+	Silent	SNP	G	G	A	rs142610787		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:24922025G>A	ENST00000329468.2	+	1	1485	c.1011G>A	c.(1009-1011)ccG>ccA	p.P337P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCTGCTGCCGCTGCCCCCTT	0.577000													25	28					0	0	0.001061	0	0
DNAH7	56171	broad.mit.edu	37	2	196737151	196737151	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:196737151G>A	ENST00000312428.6	-	40	6556	c.6456C>T	c.(6454-6456)atC>atT	p.I2152I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2152	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCATTTACGATTTGTGTGG	0.323000													13	50					0	0	0.002450	0	0
LAMC1	3915	broad.mit.edu	37	1	183093825	183093825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:183093825C>T	ENST00000258341.4	+	14	2718	c.2461C>T	c.(2461-2463)Cct>Tct	p.P821S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	821	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGAAACGGCCCTGTGAGACT	0.498000													12	45					0	0	0.001368	0	0
ADCY8	114	broad.mit.edu	37	8	131916094	131916094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:131916094C>T	ENST00000286355.5	-	7	3927	c.1835G>A	c.(1834-1836)aGa>aAa	p.R612K	ADCY8_ENST00000377928.3_Missense_Mutation_p.R612K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	612					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R612I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCACTGTTTCTCCGGTCTGA	0.478000										HNSCC(32;0.087)			45	31					0	0	0.002222	0	0
HYDIN	54768	broad.mit.edu	37	16	70891649	70891649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:70891649G>A	ENST00000393567.2	-	72	12404	c.12254C>T	c.(12253-12255)tCt>tTt	p.S4085F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4085										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)				CTTGTTCAGAGAGATGAGAGG	0.483000													13	36					0	0	0.002450	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280841	105280841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:105280841G>A	ENST00000327674.4	-	1	544	c.209C>T	c.(208-210)cCt>cTt	p.P70L	SERPINA7_ENST00000372563.1_Missense_Mutation_p.P70L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	70					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AATGCTCACAGGGGAAAAGAA	0.483000													34	1					0	0	0.002096	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111794228	111794228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:111794228G>A	ENST00000452346.2	+	15	1847	c.1844G>A	c.(1843-1845)gGg>gAg	p.G615E	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.G489E			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	615	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACCCTGGAGGGGGGTTGGCCG	0.567000													69	83					0	0	0.003610	0	0
KNDC1	85442	broad.mit.edu	37	10	134999585	134999585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:134999585G>A	ENST00000304613.3	+	6	754	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	KNDC1_ENST00000368571.2_Missense_Mutation_p.G180S|KNDC1_ENST00000368572.2_Missense_Mutation_p.G245S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	245					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GACCCCCGAAGGCCCGGAGTC	0.716000													8	4					0	0	0.004482	0	0
PDXK	8566	broad.mit.edu	37	21	45168938	45168938	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:45168938C>T	ENST00000291565.4	+	6	624	c.441C>T	c.(439-441)atC>atT	p.I147I	PDXK_ENST00000467908.1_Silent_p.I107I|PDXK_ENST00000468090.1_Silent_p.I119I	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	147					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CAGACATTATCACGCCCAACC	0.468000													15	20					0	0	0.004007	0	0
ELAVL2	1993	broad.mit.edu	37	9	23705041	23705041	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:23705041G>C	ENST00000397312.2	-	4	636	c.362C>G	c.(361-363)tCt>tGt	p.S121C	ELAVL2_ENST00000223951.6_Missense_Mutation_p.S121C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.S121C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.S121C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.S150C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	121					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ATCTCTGATAGAAGCTGAACT	0.383000													22	2					0	0	0.004656	0	0
DNAH5	1767	broad.mit.edu	37	5	13762932	13762932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:13762932C>T	ENST00000265104.4	-	60	10284	c.10180G>A	c.(10180-10182)Gaa>Aaa	p.E3394K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3394	Stalk (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)					TTAGCAGTTTCGATGTTATAG	0.373000									Kartagener syndrome				33	30					0	0	0.002096	0	0
APOA4	337	broad.mit.edu	37	11	116692476	116692476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:116692476C>T	ENST00000357780.3	-	3	412	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ccaatctcctccttcagtttc	0.592000													98	68					0	0	0.003610	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834437	101834437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:101834437C>T	ENST00000263468.8	+	6	2941	c.2671C>T	c.(2671-2673)Cat>Tat	p.H891Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.H692Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	891							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAAATAAATCATTCAAATGG	0.418000													23	24					0	0	0.002299	0	0
TNRC6A	27327	broad.mit.edu	37	16	24828142	24828142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:24828142C>T	ENST00000395799.3	+	20	4966	c.4837C>T	c.(4837-4839)Cgt>Tgt	p.R1613C	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Missense_Mutation_p.R91C|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1564C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1613					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCCAGAATTTCGTCCTGGTGA	0.343000													31	45					0	0	0.003271	0	0
CA6	765	broad.mit.edu	37	1	9011548	9011548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:9011548G>A	ENST00000319474.2	+	3	350	c.326G>A	c.(325-327)gGc>gAc	p.G109D	CA6_ENST00000377443.2_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI	107					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCACAAAGGCCAAAGGCAG	0.542000													6	14					0	0	0.001168	0	0
USP9Y	8287	broad.mit.edu	37	Y	14889989	14889989	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrY:14889989G>A	ENST00000338981.3	+	20	3621	c.2676G>A	c.(2674-2676)cgG>cgA	p.R892R	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	892					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTATAGTTCGGTTTCCAAACC	0.343000													13	3					0	0	0.002450	0	0
DNAH9	1770	broad.mit.edu	37	17	11572479	11572479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:11572479G>A	ENST00000262442.3	+	16	2898	c.2830G>A	c.(2830-2832)Ggt>Agt	p.G944S	DNAH9_ENST00000454412.2_Missense_Mutation_p.G944S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	944	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTGAAGGGGGGTTTCTGTGA	0.488000													87	10					0	0	0.003610	0	0
MROH2B	133558	broad.mit.edu	37	5	41018857	41018857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:41018857C>T	ENST00000399564.4	-	26	3059	c.2609G>A	c.(2608-2610)gGa>gAa	p.G870E	MROH2B_ENST00000506092.2_Missense_Mutation_p.G425E	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAGAAGTTTTCCTAGGGCGTC	0.448000													27	40					0	0	0.001512	0	0
CYP4A22	284541	broad.mit.edu	37	1	47606542	47606542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:47606542C>T	ENST00000371891.3	+	2	317	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	CYP4A22_ENST00000294337.3_Missense_Mutation_p.R96C|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R96C	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	96						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGCAAAGTTCGTGTCCAGCT	0.502000													67	30					0	0	0.003610	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951096	119951096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:119951096C>T	ENST00000307142.4	+	4	1362	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P389L|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P389L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	389						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTCCCAACCCCAACTCCAAG	0.512000													45	9					0	0	0.003610	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038956	17038956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:17038956G>A	ENST00000443236.1	-	25	3405	c.3374C>T	c.(3373-3375)tCc>tTc	p.S1125F		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1078						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAGCCGGTGGAAAAGCCAAT	0.597000													34	29					0	0	0.001485	0	0
FSTL5	56884	broad.mit.edu	37	4	162421188	162421188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:162421188C>T	ENST00000306100.5	-	12	1874	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	FSTL5_ENST00000427802.2_Missense_Mutation_p.E470K|FSTL5_ENST00000379164.4_Missense_Mutation_p.E479K|FSTL5_ENST00000536695.1_Missense_Mutation_p.E479K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	480						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)		AGGAGCTTTTCACTAGGCTTA	0.338000													9	2					0	0	0.000673	0	0
EPHA6	285220	broad.mit.edu	37	3	97124004	97124004	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:97124004G>A	ENST00000389672.5	+	6	1655	c.1617G>A	c.(1615-1617)ctG>ctA	p.L539L		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	444						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						CACCTTCCCTGATAGGTGTGG	0.393000													4	5					0	0	0.001168	0	0
MYRIP	25924	broad.mit.edu	37	3	40211497	40211497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:40211497G>A	ENST00000302541.6	+	8	1128	c.786G>A	c.(784-786)tgG>tgA	p.W262*	MYRIP_ENST00000425621.1_Nonsense_Mutation_p.W262*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.W75*|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.W262*|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.W173*	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	262	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGCCAGGATGGCCACATCCCC	0.567000													19	3					0	0	0.001523	0	0
ZBTB49	166793	broad.mit.edu	37	4	4304110	4304110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:4304110C>T	ENST00000337872.4	+	3	668	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.R183C	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ATCAGTTAATCGTCATCACTC	0.443000													9	39					0	0	0.000443	0	0
CD33	945	broad.mit.edu	37	19	51738907	51738907	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:51738907C>T	ENST00000436584.2	+	5	574	c.519C>T	c.(517-519)caC>caT	p.H173H	CD33_ENST00000421133.2_Silent_p.H173H|CD33_ENST00000262262.4_Silent_p.H300H|CD33_ENST00000391796.3_Silent_p.H300H			P20138	CD33_HUMAN	CD33 molecule	300	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ATGACACCCACCCTACCACAG	0.607000													8	8					0	0	0.000443	0	0
ZIM3	114026	broad.mit.edu	37	19	57646302	57646302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:57646302C>T	ENST00000269834.1	-	5	1788	c.1403G>A	c.(1402-1404)aGa>aAa	p.R468K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R468I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGTGAATTCTTTTCTGGTG	0.423000													42	62					0	0	0.003214	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826656	124826656	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:124826656G>A	ENST00000423114.2	-	10	1460	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	SLC12A8_ENST00000314584.7_Silent_p.F211F|SLC12A8_ENST00000393469.4_Silent_p.F458F|SLC12A8_ENST00000469902.1_Silent_p.F458F|SLC12A8_ENST00000430155.2_Silent_p.F259F|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	458					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TGTCCTTGGTGAATTCCAGTA	0.557000													40	42					0	0	0.001485	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663613	44663613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:44663613C>T	ENST00000454036.1	+	2	224	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	SLC12A5_ENST00000243964.3_Missense_Mutation_p.P27S|SLC12A5_ENST00000539566.1_Missense_Mutation_p.P27S|SLC12A5_ENST00000372315.1_Missense_Mutation_p.P27S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	50					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGAAAGCAGTCCCTTCATCAA	0.547000													34	47					0	0	0.001706	0	0
ERP44	23071	broad.mit.edu	37	9	102784421	102784421	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:102784421C>A	ENST00000262455.6	-	5	573	c.374G>T	c.(373-375)gGt>gTt	p.G125V		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	125	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TGATCGCTGACCCCTGTATTC	0.413000													45	6					1.48734e-19	2.78924e-19	0.003214	1	0
TPTE2	93492	broad.mit.edu	37	13	20048194	20048194	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:20048194G>A	ENST00000400230.2	-	6	296	c.252C>T	c.(250-252)gtC>gtT	p.V84V	TPTE2_ENST00000390680.2_Silent_p.V47V|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Silent_p.V47V|TPTE2_ENST00000382978.1_Silent_p.V84V|TPTE2_ENST00000382977.4_Silent_p.V84V|TPTE2_ENST00000382975.4_Silent_p.V84V|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	84						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CATCCAGTAAGACCAGGAAAA	0.308000													26	19					0	0	0.003954	0	0
DNAH8	1769	broad.mit.edu	37	6	38810600	38810600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:38810600C>T	ENST00000359357.3	+	33	4369	c.4115C>T	c.(4114-4116)cCa>cTa	p.P1372L	DNAH8_ENST00000441566.1_Missense_Mutation_p.P1372L|DNAH8_ENST00000449981.2_Missense_Mutation_p.P1589L					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						ACTGGAACCCCATTTGATGTG	0.388000													18	48					0	0	0.000958	0	0
CA1	759	broad.mit.edu	37	8	86250633	86250633	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:86250633T>G	ENST00000523953.1	-	4	1129	c.83A>C	c.(82-84)aAc>aCc	p.N28T	CA1_ENST00000432364.2_Missense_Mutation_p.N28T|CA1_ENST00000542576.1_Missense_Mutation_p.N28T|CA1_ENST00000256119.5_Missense_Mutation_p.N28T|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Missense_Mutation_p.N28T|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Missense_Mutation_p.N28T			P00915	CAH1_HUMAN	carbonic anhydrase I	28					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGGGACTGGTTATTTCCATT	0.413000													72	76					0	0	0.003610	0	0
CTNND2	1501	broad.mit.edu	37	5	11565150	11565150	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:11565150G>A	ENST00000304623.8	-	3	382	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000359640.2_Silent_p.L65L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	65					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTCGGGTCAGCCTTTCAAAC	0.493000													7	14					0	0	0.001984	0	0
ALX4	60529	broad.mit.edu	37	11	44297060	44297060	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:44297060G>A	ENST00000329255.3	-	2	718	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	205					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TCTCTGAGTCGGCCTTCTCCA	0.627000													25	91					0	0	0.001061	0	0
IYD	389434	broad.mit.edu	37	6	150713522	150713522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:150713522G>A	ENST00000344419.3	+	3	552	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	IYD_ENST00000425615.3_Missense_Mutation_p.V83M|IYD_ENST00000392255.3_Missense_Mutation_p.V138M|IYD_ENST00000500320.3_Missense_Mutation_p.V138M|IYD_ENST00000392256.2_Missense_Mutation_p.V138M|IYD_ENST00000229447.5_Missense_Mutation_p.V138M	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	138					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CTGGACCTTCGTGGTTGTGAA	0.488000													61	11					0	0	0.003610	0	0
TRMT1	55621	broad.mit.edu	37	19	13216316	13216316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:13216316G>A	ENST00000592062.1	-	16	2258	c.1688C>T	c.(1687-1689)cCt>cTt	p.P563L	TRMT1_ENST00000221504.8_Missense_Mutation_p.P534L|TRMT1_ENST00000437766.1_Missense_Mutation_p.P563L|TRMT1_ENST00000357720.4_Missense_Mutation_p.P563L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	563							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CCGGGCACGAGGCCGGGGACC	0.662000													54	61					0	0	0.003610	0	0
PRKCA	5578	broad.mit.edu	37	17	64641630	64641630	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:64641630G>T	ENST00000413366.3	+	5	555		c.e5+1			NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha						activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CATGTCACAGGTAAGGCTTGC	0.552000													39	7					1.5731e-28	2.95784e-28	0.002852	1	0
LILRA2	11027	broad.mit.edu	37	19	55087514	55087514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:55087514C>T	ENST00000251377.3	+	7	1326	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	LILRA2_ENST00000251376.3_Missense_Mutation_p.S398L|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S386L|LILRA2_ENST00000391738.3_Missense_Mutation_p.S398L|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGCTACAGCTCACTCAGCTCC	0.597000													28	43					0	0	0.001512	0	0
TACR3	6870	broad.mit.edu	37	4	104640528	104640528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:104640528C>T	ENST00000304883.2	-	1	445	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	102						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GATGAGATTTCCCAAAACTGC	0.597000													39	27					0	0	0.001951	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978696	148978696	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:148978696C>T	ENST00000434415.1	+	6	1066	c.903C>T	c.(901-903)atC>atT	p.I301I	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	301					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AGTGTAGAATCCCCCGAGGGC	0.687000													25	67					0	0	0.004656	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944941	117944941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:117944941C>T	ENST00000356554.3	+	2	1171	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	146					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TAAGGTAGTCCAAGAAATGAA	0.403000													13	27					0	0	0.002450	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878930	12878930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:12878930C>T	ENST00000524591.2	+	5	1231	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	248							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAAATCGTTTCGTTCCTGGTT	0.418000													38	44					0	0	0.005524	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136323094	136323094	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:136323094A>C	ENST00000371929.3	+	28	4399	c.3955A>C	c.(3955-3957)Acg>Ccg	p.T1319P	ADAMTS13_ENST00000371910.1_Missense_Mutation_p.T115P|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.T1263P|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.T1232P|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1319	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAGTCCAGCCACGAGTAATGC	0.607000													33	3					0	0	0.002836	0	0
AHCYL2	23382	broad.mit.edu	37	7	129049373	129049373	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:129049373T>C	ENST00000325006.3	+	11	1406	c.1352T>C	c.(1351-1353)gTt>gCt	p.V451A	AHCYL2_ENST00000531335.2_Missense_Mutation_p.V370A|AHCYL2_ENST00000446212.1_Missense_Mutation_p.V349A|AHCYL2_ENST00000474594.1_Missense_Mutation_p.V348A|AHCYL2_ENST00000490911.1_Missense_Mutation_p.V348A|AHCYL2_ENST00000446544.2_Missense_Mutation_p.V450A	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	451					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GTGGACATTGTTATTACCTGT	0.388000													67	28					0	0	0.003610	0	0
EVPL	2125	broad.mit.edu	37	17	74004282	74004282	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:74004282C>T	ENST00000301607.3	-	22	5257	c.5004G>A	c.(5002-5004)cgG>cgA	p.R1668R	EVPL_ENST00000586740.1_Silent_p.R1690R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1668	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						TGAGCTCCTCCCGGCTCACCT	0.647000													27	8					0	0	0.004656	0	0
ZBED1	9189	broad.mit.edu	37	X	2406910	2406910	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:2406910G>A	ENST00000381223.4	-	2	2054	c.1851C>T	c.(1849-1851)gcC>gcT	p.A617A	ZBED1_ENST00000381218.3_Silent_p.A617A|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.A617A|RP11-325D5.3_ENST00000515319.1_RNA	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	617						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				GACGCTCAGGGGCGACGCGCG	0.657000													79	101					0	0	0.003610	0	0
TMEM255B	348013	broad.mit.edu	37	13	114507916	114507916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:114507916C>T	ENST00000375353.3	+	8	755	c.728C>T	c.(727-729)cCc>cTc	p.P243L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1			transmembrane protein 255B																		CTCTACAACCCCGCCCAGCAG	0.677000													15	53					0	0	0.006122	0	0
TCF4	6925	broad.mit.edu	37	18	52928712	52928712	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:52928712C>T	ENST00000354452.3	-	12	1586	c.975G>A	c.(973-975)ggG>ggA	p.G325G	TCF4_ENST00000564999.1_Silent_p.G325G|TCF4_ENST00000564228.1_Silent_p.G254G|TCF4_ENST00000457482.3_Silent_p.G165G|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000565018.2_Silent_p.G325G|TCF4_ENST00000561831.3_Silent_p.G165G|TCF4_ENST00000564403.2_Silent_p.G331G|TCF4_ENST00000561992.1_Silent_p.G195G|TCF4_ENST00000543082.1_Silent_p.G283G|TCF4_ENST00000568673.1_Silent_p.G301G|TCF4_ENST00000568740.1_Silent_p.G300G|TCF4_ENST00000570177.2_Silent_p.G195G|TCF4_ENST00000356073.4_Silent_p.G325G|TCF4_ENST00000398339.1_Silent_p.G427G|TCF4_ENST00000567880.1_Silent_p.G265G|TCF4_ENST00000566286.1_Silent_p.G323G|TCF4_ENST00000540999.1_Silent_p.G301G|TCF4_ENST00000537578.1_Silent_p.G301G|TCF4_ENST00000570287.2_Silent_p.G165G|TCF4_ENST00000544241.2_Silent_p.G254G|TCF4_ENST00000537856.3_Silent_p.G195G|TCF4_ENST00000566279.1_Silent_p.G265G	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	325					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAAGTGCTTTCCCCAGAGCAT	0.448000													62	174					0	0	0.003610	0	0
PRRG2	5639	broad.mit.edu	37	19	50086873	50086873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:50086873G>A	ENST00000246794.5	+	3	329	c.160G>A	c.(160-162)Gac>Aac	p.D54N	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	54	Gla.					extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CAACCACTGGGACCTGGAGCT	0.572000													61	76					0	0	0.003610	0	0
MOV10L1	54456	broad.mit.edu	37	22	50582601	50582601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:50582601C>T	ENST00000262794.5	+	18	2517	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R792W|MOV10L1_ENST00000395858.3_Missense_Mutation_p.R812W|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R812W	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	812					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CGTGTGTCTGCGGCTGCACGA	0.602000													111	49					0	0	0.003610	0	0
ABCG4	64137	broad.mit.edu	37	11	119025586	119025586	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:119025586T>G	ENST00000307417.3	+	6	1011	c.647T>G	c.(646-648)gTc>gGc	p.V216G	ABCG4_ENST00000449422.2_Missense_Mutation_p.V216G|ABCG4_ENST00000531739.1_Missense_Mutation_p.V216G	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	216	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGGAGCTGGTCAACAACCCG	0.627000													7	85					0	0	0.003080	0	0
DHX36	170506	broad.mit.edu	37	3	154027598	154027598	+	Silent	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:154027598T>C	ENST00000496811.1	-	5	737	c.657A>G	c.(655-657)ttA>ttG	p.L219L	DHX36_ENST00000544526.1_Silent_p.L219L|DHX36_ENST00000308361.6_Silent_p.L219L|DHX36_ENST00000329463.5_Silent_p.L219L	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	219	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)			GGTTATCAATTAAATTTACCA	0.308000													9	2					0	0	0.004482	0	0
FAM135B	51059	broad.mit.edu	37	8	139255187	139255187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:139255187C>T	ENST00000395297.1	-	7	837	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	223								p.E223K(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCCTTACCTCTGAGGAAGTC	0.463000										HNSCC(54;0.14)			21	28					0	0	0.001523	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857449	68857449	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:68857449G>A	ENST00000361320.4	+	3	2219	c.1641G>A	c.(1639-1641)acG>acA	p.T547T	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	547						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCTTTGAAACGAATGCACAGG	0.463000													27	37					0	0	0.003954	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166831754	166831754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:166831754G>A	ENST00000510118.1	-	21	2312	c.1972C>T	c.(1972-1974)Ctt>Ttt	p.L658F	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.L641F|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.L633F|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.L544F|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.L544F			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	633	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCCCCAGAAAGGGCATACTTC	0.453000													41	3					0	0	0.002222	0	0
UTS2B	257313	broad.mit.edu	37	3	190995954	190995954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:190995954C>T	ENST00000340524.5	-	6	895	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	UTS2B_ENST00000427544.2_Missense_Mutation_p.E37K	NM_198152.3	NP_937795.2			urotensin 2B																		GGAAATATTTCATTTCCTATA	0.294000													7	10					0	0	0.001984	0	0
OR52A5	390054	broad.mit.edu	37	11	5153778	5153778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:5153778G>A	ENST00000307388.1	-	1	94	c.95C>T	c.(94-96)cCt>cTt	p.P32L		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGCAGAGAAAGGAATCCCAAT	0.393000													7	31					0	0	0.001984	0	0
ZNF506	440515	broad.mit.edu	37	19	19905887	19905887	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:19905887G>T	ENST00000443905.2	-	4	956	c.809C>A	c.(808-810)gCa>gAa	p.A270E	CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.A270E|ZNF506_ENST00000450683.2_Missense_Mutation_p.A238E|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AAAAAGGGTTGCAGGGTGGTT	0.378000													13	24					2.61681e-11	4.86905e-11	0.002450	1	0
CRNKL1	51340	broad.mit.edu	37	20	20029057	20029057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:20029057G>A	ENST00000377340.2	-	5	899	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R278C|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R129C	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	290					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTGACTTGGCGATTCTTCATT	0.433000													31	30					0	0	0.002096	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762352	130762352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:130762352C>T	ENST00000392429.1	+	2	3163	c.785C>T	c.(784-786)tCc>tTc	p.S262F	TMEM200A_ENST00000545622.1_Missense_Mutation_p.S262F|TMEM200A_ENST00000296978.3_Missense_Mutation_p.S262F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	262						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)		CCACCTCCTTCCAAGACAACT	0.438000													55	3					0	0	0.003610	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403731	47403731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:47403731C>T	ENST00000310638.4	-	2	305	c.274G>A	c.(274-276)Gga>Aga	p.G92R	CYP4A11_ENST00000371905.1_Missense_Mutation_p.G92R|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.G92R	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	92					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACTTTGCCTCCCCATAGCCAA	0.507000													66	30					0	0	0.003610	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958775	88958775	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:88958775G>A	ENST00000268679.4	-	4	894	c.498C>T	c.(496-498)ccC>ccT	p.P166P	CBFA2T3_ENST00000436887.2_Silent_p.P141P|CBFA2T3_ENST00000360302.2_Silent_p.P80P|CBFA2T3_ENST00000448839.1_Silent_p.P90P|CBFA2T3_ENST00000327483.5_Silent_p.P80P	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	166	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGCAGGCTGGGGGCAGGTGCT	0.642000			T	RUNX1	AML								12	19					0	0	0.002450	0	0
GTPBP8	29083	broad.mit.edu	37	3	112711873	112711873	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:112711873G>T	ENST00000383678.2	+	2	419	c.336_splice	c.e2-1	p.V113_splice	GTPBP8_ENST00000473129.1_5'UTR|GTPBP8_ENST00000467752.1_Splice_Site_p.V2_splice|GTPBP8_ENST00000383677.3_Intron	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	113					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						CTTGTATAAGGTGTGTTTTAT	0.338000													19	41					2.4624e-09	4.5639e-09	0.001216	1	0
ABTB2	25841	broad.mit.edu	37	11	34181535	34181535	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:34181535T>C	ENST00000435224.2	-	13	2948	c.2524A>G	c.(2524-2526)Aag>Gag	p.K842E	ABTB2_ENST00000298992.2_Missense_Mutation_p.K656E	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	656							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GACATCTCCTTATTGTTCAAA	0.498000													12	35					0	0	0.001855	0	0
DOC2A	8448	broad.mit.edu	37	16	30018394	30018394	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:30018394G>A	ENST00000350119.4	-	7	862	c.672C>T	c.(670-672)tcC>tcT	p.S224S	DOC2A_ENST00000564944.1_Silent_p.S224S|DOC2A_ENST00000564979.1_Silent_p.S224S	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	224	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCGCTGACATGGAAGAGGGGG	0.677000													11	18					0	0	0.000978	0	0
JPH2	57158	broad.mit.edu	37	20	42747261	42747261	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:42747261G>C	ENST00000372980.3	-	3	2044	c.1172C>G	c.(1171-1173)aCa>aGa	p.T391R		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	391	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCGTGGCTTGTCCTATGGAG	0.582000													64	56					0	0	0.003610	0	0
NLRP8	126205	broad.mit.edu	37	19	56481909	56481909	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:56481909G>A	ENST00000291971.3	+	6	2452		c.e6-1		NLRP8_ENST00000590542.1_Splice_Site	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8							cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGCTTCTACAGGTTGGAAGAC	0.463000													62	87					0	0	0.003610	0	0
NCOA2	10499	broad.mit.edu	37	8	71056961	71056961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:71056961G>A	ENST00000452400.2	-	13	2909	c.2728C>T	c.(2728-2730)Ccc>Tcc	p.P910S	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	910					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ACTGAGTAGGGACTACTGTTT	0.468000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								33	47					0	0	0.003271	0	0
NEK11	79858	broad.mit.edu	37	3	130889731	130889731	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:130889731G>A	ENST00000383366.4	+	14	1692	c.1399_splice	c.e14+1	p.E467_splice	NEK11_ENST00000510688.1_Splice_Site_p.E467_splice|NEK11_ENST00000508196.1_Splice_Site_p.E467_splice|NEK11_ENST00000412440.2_Splice_Site_p.E283_splice|NEK11_ENST00000356918.4_Splice_Site_p.G467_splice|NEK11_ENST00000429253.2_Splice_Site_p.E467_splice|NEK11_ENST00000511262.1_Splice_Site_p.A467_splice|NEK11_ENST00000510769.1_Splice_Site_p.E362_splice|NEK11_ENST00000507910.1_Splice_Site_p.G467_splice	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	467					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGGATACCATGGTATGTGTTT	0.498000													46	72					0	0	0.003610	0	0
OR52K1	390036	broad.mit.edu	37	11	4510401	4510401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:4510401G>A	ENST00000307632.3	+	1	293	c.271G>A	c.(271-273)Gat>Aat	p.D91N		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGTTCAGGGATCAGGAGAT	0.498000													14	10					0	0	0.003163	0	0
OR4K2	390431	broad.mit.edu	37	14	20344533	20344533	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:20344533T>C	ENST00000298642.2	+	1	143	c.107T>C	c.(106-108)gTg>gCg	p.V36A		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	36					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)		TTGCTTTATGTGGCAACAATG	0.408000													92	15					0	0	0.003610	0	0
BRD4	23476	broad.mit.edu	37	19	15349230	15349230	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:15349230G>A	ENST00000263377.2	-	20	4268	c.4047C>T	c.(4045-4047)ttC>ttT	p.F1349F		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1349					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)			GATCACTCTGGAAATTCATGT	0.458000			T	C15orf55	lethal midline carcinoma of young people								18	27					0	0	0.002299	0	0
PHF21B	112885	broad.mit.edu	37	22	45312397	45312397	+	Silent	SNP	G	G	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:45312397G>T	ENST00000313237.5	-	4	477	c.327C>A	c.(325-327)ccC>ccA	p.P109P	PHF21B_ENST00000447824.3_Silent_p.P97P|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Silent_p.P97P|PHF21B_ENST00000396103.3_Silent_p.P109P	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	109							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGGCTGGGCTGGGGTTCTTGA	0.716000													25	185					9.04412e-07	1.66547e-06	0.004656	1	0
FLNB	2317	broad.mit.edu	37	3	58067484	58067484	+	Silent	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:58067484A>G	ENST00000357272.4	+	4	933	c.768A>G	c.(766-768)aaA>aaG	p.K256K	FLNB_ENST00000490882.1_Silent_p.K256K|FLNB_ENST00000295956.4_Silent_p.K256K|FLNB_ENST00000358537.3_Silent_p.K256K|FLNB_ENST00000348383.5_Silent_p.K256K|FLNB_ENST00000493452.1_Silent_p.K87K|FLNB_ENST00000429972.2_Silent_p.K256K|FLNB_ENST00000419752.2_Silent_p.K87K			O75369	FLNB_HUMAN	filamin B, beta	256					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACCCGAAGAAAGCCAGGGCCT	0.527000													29	4					0	0	0.002096	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596164	24596164	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:24596164C>T	ENST00000535378.1	-	4	1353	c.711G>A	c.(709-711)gaG>gaA	p.E237E	KIAA0319_ENST00000378214.3_Silent_p.E246E|KIAA0319_ENST00000543707.1_Silent_p.E246E|KIAA0319_ENST00000537886.1_Silent_p.E246E|KIAA0319_ENST00000430948.2_Silent_p.E201E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	246					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCTCCAACACCTCTCCTGAAG	0.527000													55	27					0	0	0.003610	0	0
APLNR	187	broad.mit.edu	37	11	57003516	57003516	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:57003516G>A	ENST00000606794.1	-	1	1159	c.963C>T	c.(961-963)acC>acT	p.T321T		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	321						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGAGCATGGAGGTGCAGGCCT	0.627000													16	12					0	0	0.004007	0	0
TRIM71	131405	broad.mit.edu	37	3	32932942	32932942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:32932942C>T	ENST00000383763.4	+	4	2309	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	749					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACTTTGACTCCCCACGGGGT	0.582000													20	0					0	0	0.001523	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441544	1441544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:1441544C>T	ENST00000270349.9	-	3	475	c.348G>A	c.(346-348)atG>atA	p.M116I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.M116I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	116					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGGCCAGCTCCATGTAGAAAA	0.577000													27	29					0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13923496	13923496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:13923496G>A	ENST00000265104.4	-	4	435	c.331C>T	c.(331-333)Cct>Tct	p.P111S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	111	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P111T(1)		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)					AACACCTTAGGTTTTTTAATC	0.428000									Kartagener syndrome				45	38					0	0	0.002522	0	0
FAM83F	113828	broad.mit.edu	37	22	40415294	40415294	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:40415294C>A	ENST00000333407.5	+	2	706	c.612C>A	c.(610-612)ttC>ttA	p.F204L	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	204										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGAAGTATTTCCTGGAGATGT	0.522000													52	30					2.12129e-23	3.98333e-23	0.003610	1	0
GPR115	221393	broad.mit.edu	37	6	47682499	47682499	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:47682499C>T	ENST00000283303.2	+	6	1776	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	GPR115_ENST00000371220.1_Silent_p.F563F|GPR115_ENST00000327753.3_Silent_p.F506F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	506					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGTCATTTTCCGTAGGATGA	0.433000													38	115					0	0	0.002522	0	0
OR52H1	390067	broad.mit.edu	37	11	5566539	5566539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:5566539G>A	ENST00000322653.4	-	1	240	c.215C>T	c.(214-216)tCc>tTc	p.S72F	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCAGCATGGAGAGAAAGAA	0.478000													24	17					0	0	0.003330	0	0
HMOX2	3163	broad.mit.edu	37	16	4559688	4559688	+	Silent	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:4559688C>A	ENST00000570646.1	+	6	1487	c.882C>A	c.(880-882)ccC>ccA	p.P294P	HMOX2_ENST00000398595.3_Silent_p.P294P|HMOX2_ENST00000458134.3_Silent_p.P294P|HMOX2_ENST00000575120.1_Silent_p.P265P|HMOX2_ENST00000414777.1_Silent_p.P294P|HMOX2_ENST00000406590.2_Silent_p.P294P|HMOX2_ENST00000219700.6_Silent_p.P294P	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	294					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	TGAGGAAGCCCAGCCTCCAGT	0.602000													18	30					1.56452e-12	2.91867e-12	0.000958	1	0
DPYS	1807	broad.mit.edu	37	8	105405178	105405178	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:105405178T>C	ENST00000351513.2	-	8	1409	c.1277A>G	c.(1276-1278)aAc>aGc	p.N426S	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	426					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCGAAAATGTTGAAGTTAAC	0.428000													41	62					0	0	0.003610	0	0
NUMB	8650	broad.mit.edu	37	14	73753939	73753939	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:73753939C>T	ENST00000556772.1	-	3	2389	c.102G>A	c.(100-102)gtG>gtA	p.V34V	NUMB_ENST00000356296.4_Silent_p.V178V|NUMB_ENST00000454166.4_Silent_p.V178V|NUMB_ENST00000554546.1_Silent_p.V167V|NUMB_ENST00000544991.3_Silent_p.V178V|NUMB_ENST00000554521.2_Silent_p.V167V|NUMB_ENST00000555394.1_Silent_p.V178V|NUMB_ENST00000535282.1_Silent_p.V167V|NUMB_ENST00000555738.2_Silent_p.V167V|NUMB_ENST00000555238.1_Silent_p.V178V|NUMB_ENST00000355058.3_Silent_p.V178V|NUMB_ENST00000560335.1_Silent_p.V178V|NUMB_ENST00000559312.1_Silent_p.V178V|NUMB_ENST00000359560.3_Silent_p.V167V|NUMB_ENST00000557597.1_Silent_p.V167V			P49757	NUMB_HUMAN	numb homolog (Drosophila)	178	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		AAGTAGCAGTCACTCCACATT	0.473000													27	5					0	0	0.003954	0	0
YEATS4	8089	broad.mit.edu	37	12	69759659	69759659	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:69759659A>G	ENST00000247843.2	+	4	598	c.328A>G	c.(328-330)Aga>Gga	p.R110G	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	110	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			CCCTAATGAAAGACCTGTGAG	0.284000													22	5					0	0	0.001882	0	0
ADCY10	55811	broad.mit.edu	37	1	167825660	167825660	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:167825660C>T	ENST00000367848.1	-	17	2135	c.1638G>A	c.(1636-1638)agG>agA	p.R546R	ADCY10_ENST00000367851.4_Silent_p.R638R|ADCY10_ENST00000545172.1_Silent_p.R485R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	638					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAAAAATAATCCTTTCCTCTT	0.403000													20	87					0	0	0.002780	0	0
NPAS4	266743	broad.mit.edu	37	11	66190383	66190383	+	Silent	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:66190383A>G	ENST00000311034.2	+	4	845	c.669A>G	c.(667-669)aaA>aaG	p.K223K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	223	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCCATGCTAAAGACCTGGCTC	0.602000													13	14					0	0	0.001855	0	0
DHX37	57647	broad.mit.edu	37	12	125441650	125441650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:125441650G>A	ENST00000308736.2	-	17	2287	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	DHX37_ENST00000544745.1_Missense_Mutation_p.S517F	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	730							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGCTTCCACGGAGGGGGGCGT	0.617000													52	6					0	0	0.003610	0	0
RGPD4	285190	broad.mit.edu	37	2	108476245	108476245	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:108476245A>G	ENST00000408999.3	+	12	1779	c.1702A>G	c.(1702-1704)Aaa>Gaa	p.K568E	RGPD4_ENST00000354986.4_Missense_Mutation_p.K568E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	568					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGCCCAGGAAAAACATGGCCT	0.333000													59	26					0	0	0.003610	0	0
LILRB4	11006	broad.mit.edu	37	19	55175309	55175309	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:55175309G>A	ENST00000391736.1	+	5	483	c.168G>A	c.(166-168)cgG>cgA	p.R56R	LILRB4_ENST00000391734.3_Silent_p.R56R|LILRB4_ENST00000391733.3_Silent_p.R56R|LILRB4_ENST00000430952.2_Silent_p.R56R|LILRB4_ENST00000270452.2_Silent_p.R56R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	56	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGGAGGCTCGGGAGTACCGTC	0.607000													44	43					0	0	0.002222	0	0
CSMD3	114788	broad.mit.edu	37	8	113960107	113960107	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:113960107C>T	ENST00000297405.5	-	9	1665		c.e9-1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCTCATTTACTGCAACAGCA	0.284000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	19					0	0	0.006122	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698470	96698470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:96698470C>T	ENST00000260682.6	+	1	43	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	11					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TGTGCTCTGTCTCTCATGTTT	0.473000													49	88					0	0	0.003610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430899	37430899	+	Silent	SNP	T	T	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:37430899T>G	ENST00000374660.1	+	7	1005	c.906T>G	c.(904-906)ccT>ccG	p.P302P	ANKRD30A_ENST00000602533.1_Silent_p.P302P|ANKRD30A_ENST00000361713.1_Silent_p.P302P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	358						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						AAGAAACACCTAGGGAAATTA	0.443000													14	32					0	0	0.003163	0	0
CSMD1	64478	broad.mit.edu	37	8	2813132	2813132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:2813132C>T	ENST00000602557.1	-	65	10531	c.9976G>A	c.(9976-9978)Gga>Aga	p.G3326R	CSMD1_ENST00000400186.3_Missense_Mutation_p.G3149R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3148R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3325R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3149R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3326R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3326	Sushi 28.					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)		GGCGACTTTCCTGTCCATTTC	0.483000													19	26					0	0	0.001523	0	0
DNAH8	1769	broad.mit.edu	37	6	38854576	38854576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:38854576G>A	ENST00000359357.3	+	55	7872	c.7618G>A	c.(7618-7620)Gag>Aag	p.E2540K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E2504K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E2757K					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						GATAACTAATGAGATTGTGCG	0.348000													11	30					0	0	0.000978	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048861	107048861	+	RNA	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:107048861C>T	ENST00000390627.2	-	0	379																											GGACCCAGCTCATGTAGTTGC	0.592000													51	5					0	0	0.003610	0	0
UBR4	23352	broad.mit.edu	37	1	19477069	19477069	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:19477069A>G	ENST00000375267.2	-	49	7434		c.e49+1		UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375226.2_Splice_Site			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						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)		CAGCACTGGTACCTCTCCAGG	0.517000													16	59					0	0	0.003163	0	0
AMPD3	272	broad.mit.edu	37	11	10503704	10503704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:10503704C>T	ENST00000444303.2	+	3	516	c.44C>T	c.(43-45)cCg>cTg	p.P15L	AMPD3_ENST00000396554.3_Missense_Mutation_p.P183L	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	174					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.P183L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CACCGCTTCCCGCGGATCACA	0.612000													61	31					0	0	0.003610	0	0
POM121L12	285877	broad.mit.edu	37	7	53103784	53103784	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:53103784G>A	ENST00000408890.4	+	1	436	c.420G>A	c.(418-420)ggG>ggA	p.G140G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	140										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGACCATCGGGATCGCGCCCC	0.711000													22	12					0	0	0.001882	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899855	4899855	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:4899855G>A	ENST00000404991.1	-	1	1770	c.1584C>T	c.(1582-1584)ggC>ggT	p.G528G	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	528					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TGTTTTCACAGCCTGCAGACA	0.468000													32	44					0	0	0.002445	0	0
OBSCN	84033	broad.mit.edu	37	1	228465557	228465557	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:228465557A>T	ENST00000366707.4	+	0	6901				OBSCN_ENST00000359599.6_Missense_Mutation_p.K1133M|OBSCN_ENST00000284548.11_Missense_Mutation_p.K2286M|OBSCN_ENST00000366709.4_De_novo_Start_OutOfFrame|OBSCN_ENST00000570156.2_Missense_Mutation_p.K2715M|OBSCN_ENST00000422127.1_Missense_Mutation_p.K2286M			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)				CTCCGAGTGAAGGGTGAGGTG	0.627000													9	28					0	0	0.000978	0	0
SHE	126669	broad.mit.edu	37	1	154459132	154459132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:154459132G>A	ENST00000304760.2	-	4	1138	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	351										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCCCTGAAGGAAGGTCGCTC	0.542000													16	44					0	0	0.004007	0	0
ZNF493	284443	broad.mit.edu	37	19	21606298	21606298	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:21606298C>T	ENST00000392288.2	+	4	946	c.837C>T	c.(835-837)taC>taT	p.Y279Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.Y151Y	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATTCTCATACCTTACTAGGC	0.358000													21	28					0	0	0.002299	0	0
RYR2	6262	broad.mit.edu	37	1	237957208	237957208	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:237957208G>A	ENST00000366574.2	+	95	14141	c.13824G>A	c.(13822-13824)cgG>cgA	p.R4608R	RYR2_ENST00000360064.6_Silent_p.R4614R|RYR2_ENST00000542537.1_Silent_p.R4592R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4608					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGGCACGGAAATTGGAAT	0.353000													4	16					0	0	0.000602	0	0
ANO2	57101	broad.mit.edu	37	12	5848488	5848488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:5848488C>T	ENST00000356134.5	-	14	1491	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.E473K|ANO2_ENST00000546188.1_Missense_Mutation_p.E474K	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	478						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						CTCACTTCTTCCTCTTCTATG	0.433000													8	2					0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196737056	196737056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:196737056G>A	ENST00000312428.6	-	40	6651	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2184	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATGACACGGGAGAAATCACG	0.388000													17	54					0	0	0.004990	0	0
LMNA	4000	broad.mit.edu	37	1	156084914	156084914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:156084914G>A	ENST00000368300.4	+	1	417	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	LMNA_ENST00000368301.2_Missense_Mutation_p.V69M|LMNA_ENST00000361308.4_Missense_Mutation_p.V69M|LMNA_ENST00000368299.3_Missense_Mutation_p.V69M|LMNA_ENST00000347559.2_Missense_Mutation_p.V69M	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	69	Coil 1A.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GTCTGAAGAGGTGGTCAGCCG	0.652000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				156	72					0	0	0.003610	0	0
SASH1	23328	broad.mit.edu	37	6	148840834	148840834	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:148840834C>T	ENST00000367467.3	+	10	1489	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	338							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTCCATCCTCCAGCAGCCTGG	0.572000													39	8					0	0	0.002222	0	0
MGAM	8972	broad.mit.edu	37	7	141736730	141736730	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:141736730C>T	ENST00000475668.2	+	18	2238	c.2184C>T	c.(2182-2184)ttC>ttT	p.F728F	MGAM_ENST00000549489.2_Silent_p.F728F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	728	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)	CCCTCTTCTTCCGTGCTCACA	0.488000													128	309					0	0	0.003610	0	0
KCNH7	90134	broad.mit.edu	37	2	163374300	163374300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:163374300C>T	ENST00000332142.5	-	4	931	c.832G>A	c.(832-834)Gat>Aat	p.D278N	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.D278N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	278					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CCTTCTATATCATGGACCGAA	0.438000													10	44					0	0	0.001855	0	0
ZFP28	140612	broad.mit.edu	37	19	57060391	57060391	+	Silent	SNP	A	A	G	rs143915055	byFrequency	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:57060391A>G	ENST00000301318.3	+	5	659	c.588A>G	c.(586-588)ctA>ctG	p.L196L	ZFP28_ENST00000591844.1_Silent_p.L196L|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAGGAAAGCTATCCCAGGCAG	0.438000													11	24					0	0	0.000978	0	0
CDRT4	284040	broad.mit.edu	37	17	15341424	15341424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:15341424C>T	ENST00000312177.6	-	4	402	c.122G>A	c.(121-123)aGa>aAa	p.R41K	CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR|TVP23C_ENST00000519970.1_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	41										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		CTCAATGAGTCTTTTCACTGT	0.488000													41	6					0	0	0.001951	0	0
KIF26B	55083	broad.mit.edu	37	1	245849702	245849702	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:245849702C>T	ENST00000366518.4	+	9	2378	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	KIF26B_ENST00000407071.2_Silent_p.S1139S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1139					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGAAAAAATCCATGTCTGCTG	0.587000													44	25					0	0	0.003610	0	0
PAK1	5058	broad.mit.edu	37	11	77034362	77034362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:77034362G>A	ENST00000356341.3	-	15	2126	c.1595C>T	c.(1594-1596)cCa>cTa	p.P532L	PAK1_ENST00000530617.1_Intron|PAK1_ENST00000278568.4_Silent_p.S548S|PAK1_ENST00000528203.1_Silent_p.S450S|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	532					apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AGCAATCAGTGGAGTGAGGCT	0.438000													4	23					0	0	0.000248	0	0
OR4K15	81127	broad.mit.edu	37	14	20444070	20444070	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:20444070C>T	ENST00000305051.5	+	1	468	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCATCTCTTCACTGGCAGTG	0.453000													62	9					0	0	0.003610	0	0
RGS9	8787	broad.mit.edu	37	17	63221400	63221400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:63221400C>T	ENST00000449996.3	+	18	1751	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	RGS9_ENST00000262406.9_Missense_Mutation_p.T563I|RGS9_ENST00000443584.3_Missense_Mutation_p.T560I	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	563					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TCCCTCGACACCTCCTGGCCT	0.662000													46	5					0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28737400	28737400	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:28737400G>A	ENST00000257197.3	-	3	546	c.285C>T	c.(283-285)ttC>ttT	p.F95F	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.F95F	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	95					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATCTGAAAGGAAAATGGAAA	0.423000													7	23					0	0	0.001984	0	0
FLG2	388698	broad.mit.edu	37	1	152326351	152326351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:152326351C>T	ENST00000388718.5	-	3	3983	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1304							calcium ion binding|structural molecule activity	p.G1304A(1)		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)			AACTGTGGATCCTGACTTTGG	0.478000													116	58					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179437457	179437457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179437457C>T	ENST00000589042.1	-	326	73626	c.73402G>A	c.(73402-73404)Gaa>Aaa	p.E24468K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E22827K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E15595K|TTN_ENST00000359218.5_Missense_Mutation_p.E15528K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21900K|TTN_ENST00000460472.2_Missense_Mutation_p.E15403K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22827	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E15528K(1)|p.E15595K(1)|p.E15403K(1)|p.E21898K(1)		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)			TCTAAAGATTCTCCATGGTCC	0.453000													16	72					0	0	0.004007	0	0
CD163	9332	broad.mit.edu	37	12	7640104	7640104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:7640104C>T	ENST00000359156.4	-	8	2103	c.1901G>A	c.(1900-1902)gGa>gAa	p.G634E	CD163_ENST00000432237.2_Missense_Mutation_p.G634E|CD163_ENST00000396620.3_Missense_Mutation_p.G667E|CD163_ENST00000541972.1_Missense_Mutation_p.G622E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	634	SRCR 6.				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						ACGTGCTCCTCCTGGGGTAGA	0.502000													53	82					0	0	0.003610	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361671	105361671	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:105361671C>T	ENST00000297581.2	+	2	940	c.891C>T	c.(889-891)ttC>ttT	p.F297F	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	297					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGCTGTTTTTCCTCCCCATAC	0.478000													77	88					0	0	0.003610	0	0
OR5T3	390154	broad.mit.edu	37	11	56019898	56019898	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:56019898C>T	ENST00000303059.3	+	1	223	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CAATTTAGGGCTGGTTGTGTT	0.373000													14	41					0	0	0.002450	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111785312	111785312	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:111785312C>T	ENST00000452346.2	+	13	1632	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	TMPRSS7_ENST00000419127.1_Silent_p.D417D			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	543	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCTTCAGGGACTGTGAGAATG	0.478000													42	52					0	0	0.001485	0	0
OR2A25	392138	broad.mit.edu	37	7	143771444	143771444	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:143771444C>T	ENST00000408898.2	+	1	170	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ACGGGACAATCCTGGGGCTCA	0.557000													29	73					0	0	0.001061	0	0
TRPM3	80036	broad.mit.edu	37	9	73235016	73235016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:73235016G>A	ENST00000377110.2	-	15	2312	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	TRPM3_ENST00000357533.2_Missense_Mutation_p.S694F|TRPM3_ENST00000396280.5_Missense_Mutation_p.S539F|TRPM3_ENST00000377111.2_Missense_Mutation_p.S690F|TRPM3_ENST00000377105.1_Missense_Mutation_p.S549F|TRPM3_ENST00000360823.2_Missense_Mutation_p.S552F|TRPM3_ENST00000396292.4_Missense_Mutation_p.S562F|TRPM3_ENST00000358082.3_Missense_Mutation_p.S552F|TRPM3_ENST00000396285.1_Missense_Mutation_p.S537F|TRPM3_ENST00000377106.1_Missense_Mutation_p.S562F|TRPM3_ENST00000423814.3_Missense_Mutation_p.S717F|TRPM3_ENST00000408909.2_Missense_Mutation_p.S549F	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	715						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGCTCCTGGGAAATGTCGTC	0.602000													26	5					0	0	0.005443	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25314516	25314516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:25314516C>T	ENST00000302874.4	+	1	109	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	29							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGAGGTGGTGCTTCCTTTGGA	0.677000											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	62					0	0	0.001216	0	0
NDST4	64579	broad.mit.edu	37	4	115891704	115891704	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:115891704A>C	ENST00000264363.2	-	4	1781	c.1103T>G	c.(1102-1104)cTt>cGt	p.L368R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	368	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CACAGACCGAAGTAAAAGGTC	0.388000													20	2					0	0	0.002780	0	0
FCGBP	8857	broad.mit.edu	37	19	40357497	40357497	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:40357497G>A	ENST00000221347.6	-	34	15823	c.15816C>T	c.(15814-15816)atC>atT	p.I5272I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5272	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTACCAGGGGATGGTATTCT	0.582000													18	35					0	0	0.001216	0	0
IPO8	10526	broad.mit.edu	37	12	30827670	30827670	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:30827670A>T	ENST00000256079.4	-	7	1085	c.747T>A	c.(745-747)gaT>gaA	p.D249E	IPO8_ENST00000544829.1_Missense_Mutation_p.D44E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	249					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TATCATCCTCATCAATGTGCA	0.368000													88	117					0	0	0.003610	0	0
SCN9A	6335	broad.mit.edu	37	2	167085480	167085480	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:167085480G>A	ENST00000303354.6	-	22	4270	c.3930C>T	c.(3928-3930)gtC>gtT	p.V1310V	SCN9A_ENST00000409435.1_Silent_p.V1309V|SCN9A_ENST00000409672.1_Silent_p.V1298V|SCN9A_ENST00000375387.4_Silent_p.V1310V|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1309			V -> F (in PEPD).			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)	CATTCACAACGACCTAGTATT	0.343000													14	43					0	0	0.002450	0	0
ZNF746	155061	broad.mit.edu	37	7	149172261	149172261	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:149172261G>A	ENST00000340622.3	-	7	1429	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	ZNF746_ENST00000458143.2_Silent_p.F384F			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	383					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GTTTACACCGGAAATTCCAGC	0.672000													13	34					0	0	0.001368	0	0
KIF5C	3800	broad.mit.edu	37	2	149806454	149806454	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:149806454G>A	ENST00000435030.1	+	9	1184	c.816G>A	c.(814-816)ggG>ggA	p.G272G	KIF5C_ENST00000414838.2_Silent_p.G177G|KIF5C_ENST00000397413.1_Silent_p.G40G|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	272	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGGCAGAAGGGACAGTAAGTG	0.453000													15	3					0	0	0.000958	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6114662	6114662	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:6114662C>T	ENST00000409021.3	-	0	365				JAKMIP1_ENST00000410077.2_De_novo_Start_OutOfFrame|JAKMIP1_ENST00000282924.5_De_novo_Start_OutOfFrame|JAKMIP1_ENST00000409371.3_De_novo_Start_OutOfFrame|JAKMIP1_ENST00000409831.1_De_novo_Start_OutOfFrame|JAKMIP1_ENST00000457227.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1						protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGCTCCACCGTGCTAACC	0.592000													4	9					0	0	0.000248	0	0
PCSK2	5126	broad.mit.edu	37	20	17208089	17208089	+	Missense_Mutation	SNP	C	C	T	rs143788251	by1000genomes	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:17208089C>T	ENST00000262545.2	+	1	454	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCSK2_ENST00000377899.1_Missense_Mutation_p.R28C|PCSK2_ENST00000536609.1_Missense_Mutation_p.R47C	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	47					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGACAAAGCTCGCCAAGTTGC	0.537000													20	19					0	0	0.001523	0	0
TOM1	10043	broad.mit.edu	37	22	35729433	35729433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:35729433G>A	ENST00000411850.1	+	10	1095	c.970G>A	c.(970-972)Gac>Aac	p.D324N	TOM1_ENST00000447733.1_Missense_Mutation_p.D291N|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000449058.2_Missense_Mutation_p.D324N|TOM1_ENST00000425375.1_Missense_Mutation_p.D279N|TOM1_ENST00000436462.2_Missense_Mutation_p.D286N	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	324					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGACCTGATCGACATGGGCCC	0.607000													34	21					0	0	0.003755	0	0
MAGI1	9223	broad.mit.edu	37	3	65416490	65416490	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:65416490T>G	ENST00000330909.8	-	11	1429	c.1430A>C	c.(1429-1431)aAa>aCa	p.K477T	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.K477T|MAGI1_ENST00000402939.2_Missense_Mutation_p.K477T|MAGI1_ENST00000497477.2_Missense_Mutation_p.K477T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	477	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACGACTGCTTTTCCGCAGCTT	0.458000													23	3					0	0	0.002299	0	0
ACSM5	54988	broad.mit.edu	37	16	20451735	20451735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:20451735G>A	ENST00000331849.4	+	14	1873	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	576					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCGAAGTCAGGAGTGGGGGAA	0.488000													22	31					0	0	0.003330	0	0
OR13C8	138802	broad.mit.edu	37	9	107332301	107332301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:107332301G>A	ENST00000335040.1	+	1	853	c.853G>A	c.(853-855)Gga>Aga	p.G285R		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCTTTTCTATGGAGTGATGAC	0.418000													35	4					0	0	0.001485	0	0
DMBT1	1755	broad.mit.edu	37	10	124380872	124380872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:124380872G>A	ENST00000338354.3	+	41	5303	c.5197G>A	c.(5197-5199)Gaa>Aaa	p.E1733K	DMBT1_ENST00000368956.2_Missense_Mutation_p.E1105K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E1723K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E1723K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1733K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1105K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1733	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.E1733K(1)|p.E1862K(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATCACGAAGACGCTGG	0.557000													26	27					0	0	0.004656	0	0
PTPRR	5801	broad.mit.edu	37	12	71094984	71094984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:71094984C>T	ENST00000283228.2	-	7	1579	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	PTPRR_ENST00000378778.1_Missense_Mutation_p.R170Q|PTPRR_ENST00000342084.4_Missense_Mutation_p.R264Q|PTPRR_ENST00000440835.2_Missense_Mutation_p.R131Q|PTPRR_ENST00000549308.1_Missense_Mutation_p.R131Q	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	376					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGTGAGAATTCGGCTGGCTGA	0.463000													72	5					0	0	0.003610	0	0
SLC4A7	9497	broad.mit.edu	37	3	27444793	27444793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:27444793C>T	ENST00000295736.5	-	15	2201	c.2131G>A	c.(2131-2133)Gat>Aat	p.D711N	SLC4A7_ENST00000435667.2_Missense_Mutation_p.D596N|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000437179.1_Missense_Mutation_p.D592N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.D720N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.D703N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.D707N|SLC4A7_ENST00000455077.1_Missense_Mutation_p.D592N|SLC4A7_ENST00000388777.4_Missense_Mutation_p.D261N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.D587N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.D707N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	711						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTGCTTGCATCTGTTGCAACC	0.368000													48	9					0	0	0.003610	0	0
ADH1B	125	broad.mit.edu	37	4	100239320	100239320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:100239320G>A	ENST00000305046.8	-	3	209	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	ADH1B_ENST00000394887.3_Missense_Mutation_p.H8Y|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	48			R -> H (in beta-2; allele ADH1B*2; common in Asian populations; associated with a lower risk of alcoholism; dbSNP:rs1229984).		ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCATCTGTGTGACAGATTCCT	0.458000													44	33					0	0	0.003214	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107541	133107541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:133107541G>A	ENST00000368642.4	-	2	449	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	122								p.P81S(1)|p.P81*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCTAGGGACGGAGAATGGCCA	0.527000													6	19					0	0	0.003080	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902211	230902211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:230902211G>A	ENST00000295190.4	-	5	1876	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	473						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)		TATGTAGAAGGAAAAATCATA	0.323000													5	24					0	0	0.001168	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101595951	101595951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:101595951C>T	ENST00000310954.6	-	6	1380	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	365					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATACTTTTTCCAAATTTCAC	0.323000													7	1					0	0	0.000443	0	0
ANKRD29	147463	broad.mit.edu	37	18	21226194	21226194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:21226194C>T	ENST00000592179.1	-	3	344	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ANKRD29_ENST00000322980.9_Missense_Mutation_p.E64K|ANKRD29_ENST00000284207.7_Missense_Mutation_p.E64K	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	64										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAACCAGTTCCCTCACACAG	0.502000													24	21					0	0	0.004656	0	0
SI	6476	broad.mit.edu	37	3	164739066	164739066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:164739066C>T	ENST00000264382.3	-	27	3267	c.3205G>A	c.(3205-3207)Gaa>Aaa	p.E1069K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1069	Sucrase.				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)	AAAGGATTTTCCTTGATTTCC	0.353000										HNSCC(35;0.089)			67	65					0	0	0.003610	0	0
DYNLRB1	83658	broad.mit.edu	37	20	33122537	33122537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:33122537C>T	ENST00000417166.2	+	3	218	c.185C>T	c.(184-186)cCc>cTc	p.P62L	DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.P114L|DYNLRB1_ENST00000357156.2_Missense_Mutation_p.P62L			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	62					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						GACATCGACCCCCAGAACGAT	0.537000													29	30					0	0	0.001512	0	0
CDH17	1015	broad.mit.edu	37	8	95178082	95178082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:95178082G>A	ENST00000027335.3	-	10	1313	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*	CDH17_ENST00000441892.2_Nonsense_Mutation_p.Q183*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.Q397*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	397	Cadherin 4.					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)			GCATAGGTTTGGATTAGGAAG	0.413000													27	31					0	0	0.004656	0	0
GRM7	2917	broad.mit.edu	37	3	7620138	7620138	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:7620138C>T	ENST00000486284.1	+	8	1819	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	GRM7_ENST00000389336.4_Silent_p.V515V|GRM7_ENST00000403881.1_Silent_p.V515V|GRM7_ENST00000357716.4_Silent_p.V515V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.V515V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	515					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTAAAGGAGTCCGAGAGATAC	0.463000													13	17					0	0	0.001368	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814722	106814722	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:106814722G>A	ENST00000407775.2	+	8	2662	c.2412G>A	c.(2410-2412)acG>acA	p.T804T	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.T672T|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.T535T|ZFPM2_ENST00000517361.1_Silent_p.T672T|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	804					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.T804T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTTCTCTGACGATCAACAAGT	0.443000													6	6					0	0	0.001168	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709222	22709222	+	RNA	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:22709222C>T	ENST00000314246.8	-	0	1174																											GCTGGGGGCTCCGGGGGCAGA	0.527000													22	114					0	0	0.003755	0	0
GRK4	2868	broad.mit.edu	37	4	3031080	3031080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:3031080G>A	ENST00000398052.4	+	12	1556	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	GRK4_ENST00000504933.1_Missense_Mutation_p.D405N|GRK4_ENST00000398051.4_Missense_Mutation_p.D373N|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.D373N	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	405	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AATCAAGAATGATACCGAGGA	0.423000													7	30					0	0	0.000443	0	0
PROC	5624	broad.mit.edu	37	2	128186093	128186093	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:128186093C>T	ENST00000453608.2	+	8	1130	c.1122C>T	c.(1120-1122)tgC>tgT	p.C374C	PROC_ENST00000422777.3_Silent_p.C319C|PROC_ENST00000409048.1_Silent_p.C353C|PROC_ENST00000234071.3_Silent_p.C319C			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	319	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGCCCATCTGCCTCCCGGACA	0.657000													18	51					0	0	0.000958	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114072	117114072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:117114072G>A	ENST00000310357.3	-	6	2035	c.2014C>T	c.(2014-2016)Ctt>Ttt	p.L672F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.L601F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L497F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	672					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GAGATGCAAAGAGTAAAGCTC	0.408000													15	5					0	0	0.003163	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796936	7796936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:7796936C>T	ENST00000328853.5	-	1	121	c.53G>A	c.(52-54)gGa>gAa	p.G18E	CLEC4G_ENST00000598081.1_Intron	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	18						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GCTCATACCTCCGGGGACCTC	0.627000													10	26					0	0	0.000978	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776180	77776180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:77776180G>A	ENST00000521891.2	+	11	10678	c.10230G>A	c.(10228-10230)atG>atA	p.M3410I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.M3384I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M3361I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M3365I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3361						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)			AGTGCCAGATGATGTTTACTG	0.423000										HNSCC(33;0.089)			10	7					0	0	0.000443	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630948	74630948	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:74630948C>T	ENST00000358632.4	-	8	1619	c.924G>A	c.(922-924)cgG>cgA	p.R308R	CYP11A1_ENST00000419019.2_Silent_p.R308R|CYP11A1_ENST00000268053.6_Silent_p.R466R	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	466					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCTCAGCGATCCGCCGTCCCA	0.552000													30	35					0	0	0.002836	0	0
IRX3	79191	broad.mit.edu	37	16	54319046	54319046	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:54319046G>A	ENST00000329734.3	-	2	1459	c.747C>T	c.(745-747)gaC>gaT	p.D249D		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	249	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						cctcgtcctcgtcgtcgtcag	0.692000													4	12					0	0	0.000248	0	0
FBXW7	55294	broad.mit.edu	37	4	153271233	153271233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:153271233G>A	ENST00000281708.4	-	3	1774	c.545C>T	c.(544-546)tCt>tTt	p.S182F	FBXW7_ENST00000296555.5_Missense_Mutation_p.S64F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S102F|FBXW7_ENST00000603548.1_Missense_Mutation_p.S182F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S182F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	182					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTTCCCAAAGAAAAAGAGCG	0.299000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								4	0					0	0	0.000602	0	0
TRAV1-2	28692	broad.mit.edu	37	14	22111199	22111199	+	RNA	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:22111199G>A	ENST00000390423.2	+	0	91																											GCAGATGTGGGGAGTTTTCCT	0.463000													22	2					0	0	0.004656	0	0
UGGT1	56886	broad.mit.edu	37	2	128867245	128867245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:128867245C>T	ENST00000375990.3	+	5	777	c.374C>T	c.(373-375)tCg>tTg	p.S125L	UGGT1_ENST00000259253.6_Missense_Mutation_p.S149L			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	149					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGATGTAATTCGTTTTTTTCA	0.373000													35	16					0	0	0.001287	0	0
LMAN1L	79748	broad.mit.edu	37	15	75105316	75105316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:75105316G>A	ENST00000309664.5	+	1	260	c.121G>A	c.(121-123)Ggc>Agc	p.G41S	LMAN1L_ENST00000379709.3_Missense_Mutation_p.G41S	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	41	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTTCAAAGGCCCAAGGCT	0.607000													37	56					0	0	0.003755	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021208	161021208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:161021208G>A	ENST00000368013.3	-	10	1636	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S439F|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S262F	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	439					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTGGCCAAGGAAACGTTAGA	0.632000													29	19					0	0	0.001786	0	0
TRERF1	55809	broad.mit.edu	37	6	42200500	42200500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:42200500G>A	ENST00000541110.1	-	17	3825	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	TRERF1_ENST00000372917.4_Missense_Mutation_p.S995L|TRERF1_ENST00000340840.2_Missense_Mutation_p.S995L|TRERF1_ENST00000372922.4_Missense_Mutation_p.S1066L|TRERF1_ENST00000354325.2_Missense_Mutation_p.S983L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1066	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTCTTTACCGAACAGTACCC	0.642000													23	19					0	0	0.003330	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572253	140572253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:140572253C>T	ENST00000239446.4	+	1	312	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		43	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S43Y(1)		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)			GAGAAAGGATCCTTTGTGGTC	0.493000													29	3					0	0	0.004289	0	0
ABCA10	10349	broad.mit.edu	37	17	67189662	67189662	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:67189662A>T	ENST00000269081.4	-	15	2522	c.1613T>A	c.(1612-1614)cTa>cAa	p.L538Q	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	538	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGCAATCCCTAGTGTTAGTTT	0.303000													20	0					0	0	0.002780	0	0
IGSF10	285313	broad.mit.edu	37	3	151166294	151166294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:151166294G>A	ENST00000282466.3	-	4	1474	c.1475C>T	c.(1474-1476)aCc>aTc	p.T492I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	492	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGCCAACGGTTCCACCTAC	0.488000													84	105					0	0	0.003610	0	0
CHAT	1103	broad.mit.edu	37	10	50854651	50854651	+	Silent	SNP	A	A	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:50854651A>C	ENST00000395562.2	+	9	1435	c.966A>C	c.(964-966)gcA>gcC	p.A322A	CHAT_ENST00000351556.3_Silent_p.A286A|CHAT_ENST00000395559.2_Silent_p.A286A|CHAT_ENST00000339797.1_Silent_p.A286A|CHAT_ENST00000455728.2_Silent_p.A286A|CHAT_ENST00000337653.2_Silent_p.A404A	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	404					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCCACAGGGCACTCCAGCTCC	0.632000													14	18					0	0	0.002450	0	0
CALML4	91860	broad.mit.edu	37	15	68489856	68489856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:68489856C>T	ENST00000448060.2	-	3	385	c.274G>A	c.(274-276)Gag>Aag	p.E92K	CALML4_ENST00000540479.1_Missense_Mutation_p.E63K|CALML4_ENST00000467889.1_Missense_Mutation_p.E139K|CALML4_ENST00000395465.3_Intron|RP11-315D16.2_ENST00000562767.1_Missense_Mutation_p.G65E	NM_001031733.2	NP_001026903.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	139	EF-hand 2.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CCTTTCTTCTCCTTGTCCACC	0.478000													49	67					0	0	0.003610	0	0
SAMD3	154075	broad.mit.edu	37	6	130466517	130466517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:130466517C>T	ENST00000368134.2	-	13	1854	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	SAMD3_ENST00000437477.2_Missense_Mutation_p.D416N|SAMD3_ENST00000457563.2_Missense_Mutation_p.D440N|SAMD3_ENST00000439090.2_Missense_Mutation_p.D416N	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	416										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AGGCTGGGATCATCCCCAAAA	0.343000													13	2					0	0	0.003163	0	0
SF3B6	51639	broad.mit.edu	37	2	24296976	24296976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:24296976C>T	ENST00000233468.4	-	2	332	c.119G>A	c.(118-120)gGg>gAg	p.G40E		NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN		40	RRM.				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATATTTCCCAAATATATC	0.318000													26	13					0	0	0.001271	0	0
PRSS36	146547	broad.mit.edu	37	16	31150732	31150732	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:31150732G>A	ENST00000268281.4	-	15	2353	c.2295C>T	c.(2293-2295)acC>acT	p.T765T	PRSS36_ENST00000569305.1_Silent_p.T760T|PRSS36_ENST00000418068.2_Silent_p.T662T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	765	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCGGTGCTGAGGTCATCTGCA	0.637000													35	54					0	0	0.001485	0	0
MYO18B	84700	broad.mit.edu	37	22	26294398	26294398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:26294398G>A	ENST00000335473.7	+	29	5043	c.4793G>A	c.(4792-4794)cGa>cAa	p.R1598Q	CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1598Q|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.R1599Q|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1598	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAACAAAGTCGAAACCATGAG	0.537000													42	133					0	0	0.003610	0	0
SUPT5H	6829	broad.mit.edu	37	19	39964645	39964645	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:39964645C>T	ENST00000599117.1	+	27	2902	c.2535C>T	c.(2533-2535)acC>acT	p.T845T	SUPT5H_ENST00000359191.6_Silent_p.T841T|SUPT5H_ENST00000402194.2_Silent_p.T841T|SUPT5H_ENST00000432763.2_Silent_p.T845T|SUPT5H_ENST00000598725.1_Silent_p.T845T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	845	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGAGCCCACCCCGTCCCCGC	0.567000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	40					0	0	0.002852	0	0
ZNF665	79788	broad.mit.edu	37	19	53669091	53669091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:53669091G>A	ENST00000600412.1	-	2	572	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	ZNF665_ENST00000396424.3_Missense_Mutation_p.R218C			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	153					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)		AGGTTTGAACGAACAGTAAAG	0.408000													35	57					0	0	0.003755	0	0
GREB1	9687	broad.mit.edu	37	2	11729034	11729034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:11729034C>T	ENST00000381486.2	+	10	1622	c.1322C>T	c.(1321-1323)aCc>aTc	p.T441I	GREB1_ENST00000234142.5_Missense_Mutation_p.T441I|GREB1_ENST00000381483.2_Missense_Mutation_p.T441I	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	441						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCCTGCTTACCGTCTACTAC	0.632000													16	47					0	0	0.006122	0	0
IGLV1-50	28821	broad.mit.edu	37	22	22681916	22681916	+	RNA	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:22681916C>T	ENST00000390291.2	+	0	149																											TCTGGGGCCCCAGGGCAGAGG	0.592000													56	114					0	0	0.003610	0	0
ADAM2	2515	broad.mit.edu	37	8	39627040	39627040	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:39627040A>T	ENST00000265708.4	-	12	1186	c.1083T>A	c.(1081-1083)caT>caA	p.H361Q	ADAM2_ENST00000379853.2_Missense_Mutation_p.H235Q|ADAM2_ENST00000521880.1_Missense_Mutation_p.H361Q|ADAM2_ENST00000347580.4_Missense_Mutation_p.H342Q	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	361	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTGAAATAAAATGTGCAAAGT	0.393000													13	19					0	0	0.002450	0	0
HNF1A	6927	broad.mit.edu	37	12	121416653	121416653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:121416653C>T	ENST00000257555.6	+	1	308	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Nonsense_Mutation_p.Q28*|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000541395.1_Nonsense_Mutation_p.Q28*|HNF1A_ENST00000543427.1_Intron|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000400024.2_Nonsense_Mutation_p.Q28*|HNF1A_ENST00000402929.1_Nonsense_Mutation_p.Q28*			P20823	HNF1A_HUMAN	HNF1 homeobox A	28	Dimerization.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q28*(2)|p.I27_L30delIQAL(1)|p.A25_Q28del(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCACTGATCCAGGCACTGGG	0.682000									Hepatic Adenoma, Familial Clustering of				185	25					0	0	0.003610	0	0
EPHB2	2048	broad.mit.edu	37	1	23237024	23237024	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:23237024C>T	ENST00000400191.3	+	14	2670	c.2652C>T	c.(2650-2652)atC>atT	p.I884I	EPHB2_ENST00000374627.1_Silent_p.I879I|EPHB2_ENST00000374632.3_Silent_p.I885I|EPHB2_ENST00000374630.3_Silent_p.I884I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	884	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)		ACAAGATGATCCGCAATCCCA	0.642000													7	30					0	0	0.001984	0	0
CES3	23491	broad.mit.edu	37	16	66997462	66997462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:66997462C>T	ENST00000303334.4	+	3	427	c.356C>T	c.(355-357)tCc>tTc	p.S119F	CES3_ENST00000394037.1_Missense_Mutation_p.S119F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	119						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAGATCTTCTCCGTTTCAGAG	0.607000													26	15					0	0	0.004656	0	0
PSG2	5670	broad.mit.edu	37	19	43576076	43576076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:43576076G>A	ENST00000406487.1	-	4	838	c.740C>T	c.(739-741)tCa>tTa	p.S247L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	247	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ATTGGTGTATGAAGGGTGAAT	0.483000													48	100					0	0	0.003610	0	0
PARD3B	117583	broad.mit.edu	37	2	206480197	206480197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:206480197C>T	ENST00000406610.2	+	23	3485	c.3278C>T	c.(3277-3279)cCt>cTt	p.P1093L	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.P992L|PARD3B_ENST00000358768.2_Missense_Mutation_p.P1031L|PARD3B_ENST00000351153.1_Missense_Mutation_p.P1024L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1093					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCCGCAGATCCTGTAGACTAT	0.562000													24	82					0	0	0.003954	0	0
OR4A15	81328	broad.mit.edu	37	11	55136144	55136144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:55136144G>A	ENST00000314706.3	+	1	785	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGGGAAACGAAAAGCTTTC	0.438000													48	27					0	0	0.002852	0	0
PROX1	5629	broad.mit.edu	37	1	214171453	214171453	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:214171453G>A	ENST00000366958.4	+	2	2183	c.1575G>A	c.(1573-1575)agG>agA	p.R525R	PROX1_ENST00000435016.1_Silent_p.R525R|PROX1_ENST00000261454.4_Silent_p.R525R|PROX1_ENST00000498508.2_Silent_p.R525R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	525					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGAGTCTGAGGACCAAGATGT	0.552000													54	24					0	0	0.003610	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116075421	116075421	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:116075421G>A	ENST00000369271.3	-	6	810	c.510C>T	c.(508-510)atC>atT	p.I170I	AFAP1L2_ENST00000545353.1_Silent_p.I223I|AFAP1L2_ENST00000304129.4_Silent_p.I170I	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	170					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GCATCAGCTCGATGCCGGCCT	0.632000													9	14					0	0	0.000443	0	0
MAP1A	4130	broad.mit.edu	37	15	43821004	43821004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:43821004C>T	ENST00000382031.1	+	5	8078	c.8047C>T	c.(8047-8049)Cgt>Tgt	p.R2683C	MAP1A_ENST00000399453.1_Missense_Mutation_p.R2445C|MAP1A_ENST00000300231.5_Missense_Mutation_p.R2445C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2445						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCGGCCCCATCGTGGGGAGCT	0.647000													16	33					0	0	0.006122	0	0
KCNA1	3736	broad.mit.edu	37	12	5020559	5020559	+	Silent	SNP	T	T	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:5020559T>G	ENST00000382545.3	+	2	1122	c.15T>G	c.(13-15)tcT>tcG	p.S5S	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	5					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGGTGATGTCTGGGGAGAACG	0.736000													9	27					0	0	0.000443	0	0
RSPH9	221421	broad.mit.edu	37	6	43623367	43623367	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:43623367C>T	ENST00000372165.4	+	3	470	c.417C>T	c.(415-417)atC>atT	p.I139I	RSPH9_ENST00000372163.4_Silent_p.I154I	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	154					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGGCCATCATCCCCCGAGGCG	0.592000									Kartagener syndrome				101	48					0	0	0.003610	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405839	106405839	+	RNA	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:106405839G>A	ENST00000390593.2	-	0	186																											CACTGTCCCCGGAGATGGCAC	0.572000													33	7					0	0	0.002445	0	0
C10orf71	118461	broad.mit.edu	37	10	50530821	50530821	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:50530821G>A	ENST00000374144.3	+	3	519	c.231G>A	c.(229-231)agG>agA	p.R77R	C10orf71_ENST00000323868.4_Silent_p.R77R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	77										endometrium(1)	1						ACACCCAGAGGAAAAGTGGCA	0.557000													15	24					0	0	0.004990	0	0
APOL2	23780	broad.mit.edu	37	22	36627472	36627472	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:36627472C>T	ENST00000249066.6	-	5	527	c.51G>A	c.(49-51)caG>caA	p.Q17Q	APOL2_ENST00000451256.2_Silent_p.Q129Q|APOL2_ENST00000358502.5_Silent_p.Q17Q	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	17					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TCACTTGGTCCTGGAAATACT	0.463000													45	26					0	0	0.003610	0	0
ASNS	440	broad.mit.edu	37	7	97488681	97488681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:97488681G>A	ENST00000175506.4	-	6	1045	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	ASNS_ENST00000455086.1_Missense_Mutation_p.P90S|ASNS_ENST00000422745.1_Missense_Mutation_p.P152S|ASNS_ENST00000444334.1_Missense_Mutation_p.P152S|ASNS_ENST00000394308.3_Missense_Mutation_p.P173S|ASNS_ENST00000394309.3_Missense_Mutation_p.P173S|ASNS_ENST00000437628.1_Missense_Mutation_p.P90S	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	173	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTAAAAAGGGAGTCGCGGAG	0.368000													88	49					0	0	0.003610	0	0
DGKI	9162	broad.mit.edu	37	7	137237207	137237207	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:137237207C>T	ENST00000453654.1	-	20	1694	c.1155G>A	c.(1153-1155)agG>agA	p.R385R	DGKI_ENST00000288490.5_Silent_p.R685R|DGKI_ENST00000424189.2_Silent_p.R685R|DGKI_ENST00000446122.1_Silent_p.R685R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	685	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGGGGCCAACCTACAGGGCT	0.512000													113	53					0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175046622	175046622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:175046622C>T	ENST00000239462.4	+	2	181	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	23					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.S23L(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGGTGGCTTCGGCCCCAGCC	0.592000													39	10					0	0	0.001951	0	0
KCNB1	3745	broad.mit.edu	37	20	47990547	47990547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:47990547G>A	ENST00000371741.4	-	2	1716	c.1550C>T	c.(1549-1551)tCg>tTg	p.S517L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	517	Poly-Ser.				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTAGAAGACGATCTGGCTTT	0.463000													122	147					0	0	0.003610	0	0
LRP8	7804	broad.mit.edu	37	1	53723075	53723075	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:53723075G>A	ENST00000306052.6	-	15	2372	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.T757T|LRP8_ENST00000465675.1_Silent_p.T310T|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Silent_p.T587T	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	757	Clustered O-linked oligosaccharides.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GGGCTCTTGTGGTGGCAGGTA	0.547000													9	34					0	0	0.001855	0	0
DSG3	1830	broad.mit.edu	37	18	29041337	29041337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:29041337G>A	ENST00000257189.4	+	8	1044	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	321	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATACAAACTGATCCTAGAAC	0.343000													25	19					0	0	0.001271	0	0
LATS2	26524	broad.mit.edu	37	13	21557379	21557379	+	Silent	SNP	G	G	A	rs139454181	byFrequency	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:21557379G>A	ENST00000382592.4	-	5	2871	c.2466C>T	c.(2464-2466)tcC>tcT	p.S822S	LATS2_ENST00000542899.1_Silent_p.S822S	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	822	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGTAATATTTGGAATTGTGAG	0.423000													13	31					0	0	0.002450	0	0
SLC30A6	55676	broad.mit.edu	37	2	32445306	32445306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:32445306C>T	ENST00000282587.5	+	14	947	c.910C>T	c.(910-912)Cga>Tga	p.R304*	SLC30A6_ENST00000357055.3_Nonsense_Mutation_p.R107*|SLC30A6_ENST00000435660.1_Nonsense_Mutation_p.R281*|SLC30A6_ENST00000406369.1_Nonsense_Mutation_p.R230*|SLC30A6_ENST00000538303.1_Nonsense_Mutation_p.R275*|SLC30A6_ENST00000379343.2_Nonsense_Mutation_p.R344*	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	304						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	p.R304*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGTAAGAATTCGACGAGATGC	0.353000													10	42					0	0	0.000978	0	0
CSMD2	114784	broad.mit.edu	37	1	34312591	34312591	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:34312591G>A	ENST00000373381.4	-	6	1103	c.927C>T	c.(925-927)acC>acT	p.T309T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	269						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCTGGCTCCGGTGAACCTGT	0.582000													7	35					0	0	0.001984	0	0
OR13C9	286362	broad.mit.edu	37	9	107380129	107380129	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:107380129G>A	ENST00000259362.1	-	1	356	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AGCGGTCAAAGGCCATCATGC	0.502000													59	7					0	0	0.003610	0	0
TBC1D13	54662	broad.mit.edu	37	9	131559354	131559354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:131559354C>T	ENST00000372648.5	+	7	554	c.404C>T	c.(403-405)tCc>tTc	p.S135F	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.S135F|TBC1D13_ENST00000539497.1_5'UTR	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	135	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCAGACATTTCCTTCTTCCAG	0.502000													66	8					0	0	0.003610	0	0
C9	735	broad.mit.edu	37	5	39341799	39341799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:39341799G>A	ENST00000263408.4	-	3	282	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	63	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTTCTTGAACGAAACTGCACA	0.438000													18	25					0	0	0.001216	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217497	150217497	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:150217497C>T	ENST00000313543.4	+	2	592	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	145							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)		TCCATGACTTCATAGCAGATG	0.502000													26	54					0	0	0.003954	0	0
DDX60L	91351	broad.mit.edu	37	4	169322109	169322109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:169322109C>T	ENST00000511577.1	-	26	3606	c.3359G>A	c.(3358-3360)gGa>gAa	p.G1120E	DDX60L_ENST00000505890.1_Missense_Mutation_p.G1120E|DDX60L_ENST00000260184.7_Missense_Mutation_p.G1120E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1120							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGCTCTTTTTCCCACATCATC	0.348000													19	1					0	0	0.003954	0	0
F8	2157	broad.mit.edu	37	X	154157318	154157318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:154157318G>A	ENST00000360256.4	-	14	4947	c.4747C>T	c.(4747-4749)Cct>Tct	p.P1583S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1583	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)	CAAGCAAGAGGATCCAATAGC	0.428000													93	11					0	0	0.003610	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512821	101512821	+	RNA	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:101512821C>T	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA																							TATCCCTGTCCTGTTCGTTTT	0.512000													31	4					0	0	0.003271	0	0
CPT1A	1374	broad.mit.edu	37	11	68525182	68525182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:68525182C>T	ENST00000265641.5	-	19	2406	c.2252G>A	c.(2251-2253)gGa>gAa	p.G751E	CPT1A_ENST00000376618.2_Intron|CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Missense_Mutation_p.G751E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	751					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CAGGTGCCTTCCAAAGCGATG	0.398000													26	19					0	0	0.001271	0	0
C16orf46	123775	broad.mit.edu	37	16	81095627	81095627	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:81095627G>A	ENST00000378611.4	-	3	442	c.327C>T	c.(325-327)tcC>tcT	p.S109S	C16orf46_ENST00000299578.5_Silent_p.S109S|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	109										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GGCTCCAGTGGGAGAGGTTAA	0.627000													54	60					0	0	0.003610	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285160	58285160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:58285160C>T	ENST00000249750.4	-	6	1434	c.667G>A	c.(667-669)Gga>Aga	p.G223R	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G194R|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G223R|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G202R|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G127R	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	223					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATGAGGGCTCCCATGTAGAGT	0.483000													40	54					0	0	0.001706	0	0
FOXD4	2298	broad.mit.edu	37	9	117694	117694	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:117694G>A	ENST00000382500.2	-	1	723	c.426C>T	c.(424-426)cgC>cgT	p.R142R		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	142					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAACTTGCGGCGGTAGTAGG	0.642000													60	12					0	0	0.003610	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1706227	1706227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:1706227C>T	ENST00000397412.3	+	10	1568	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S490F|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S487F|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	490						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						GGAGAGAGTTCCCCCGAAAGC	0.711000													13	27					0	0	0.001855	0	0
CCNB3	85417	broad.mit.edu	37	X	50053047	50053047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:50053047G>A	ENST00000376042.1	+	6	2176	c.1878G>A	c.(1876-1878)atG>atA	p.M626I	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M626I|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	626					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCTTTAAGATGAAATCTACAA	0.448000													7	0					0	0	0.001984	0	0
CDCA7	83879	broad.mit.edu	37	2	174224179	174224179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:174224179C>T	ENST00000306721.3	+	3	447	c.344C>T	c.(343-345)tCa>tTa	p.S115L	CDCA7_ENST00000347703.3_Intron|CDCA7_ENST00000410101.3_Missense_Mutation_p.S71L|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000392567.2_Intron	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	37					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GACGATGAATCATTTTGCGGT	0.403000													36	12					0	0	0.005524	0	0
CSMD1	64478	broad.mit.edu	37	8	3200845	3200845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:3200845G>A	ENST00000602557.1	-	24	4160	c.3605C>T	c.(3604-3606)aCc>aTc	p.T1202I	CSMD1_ENST00000400186.3_Missense_Mutation_p.T1202I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T1201I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1201I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1201I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1202I|CSMD1_ENST00000520002.1_Missense_Mutation_p.T1202I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1202	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)		ACCTTGGTCGGTGTCAGATCC	0.418000													35	34					0	0	0.001485	0	0
FNDC7	163479	broad.mit.edu	37	1	109268397	109268397	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:109268397G>A	ENST00000370017.3	+	6	1159	c.882G>A	c.(880-882)acG>acA	p.T294T	FNDC7_ENST00000271311.2_Silent_p.T295T	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	295	Fibronectin type-III 4.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GAAGAGTGACGATCCAAGAAG	0.453000													21	12					0	0	0.002299	0	0
TTLL1	25809	broad.mit.edu	37	22	43471559	43471559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:43471559C>T	ENST00000331018.7	-	3	274	c.34G>A	c.(34-36)Gag>Aag	p.E12K	TTLL1_ENST00000266254.7_Missense_Mutation_p.E12K|TTLL1_ENST00000445824.1_Missense_Mutation_p.E12K			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	12	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACTGACTTCTCGATATCAGTG	0.408000													140	71					0	0	0.003610	0	0
GALNT11	63917	broad.mit.edu	37	7	151791498	151791498	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:151791498C>T	ENST00000434507.1	+	4	623	c.186C>T	c.(184-186)ggC>ggT	p.G62G	GALNT11_ENST00000430044.2_Silent_p.G62G|GALNT11_ENST00000422997.2_Silent_p.G62G|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000415421.1_Silent_p.G62G|GALNT11_ENST00000320311.2_Silent_p.G62G|GALNT11_ENST00000452146.2_Intron			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	62						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TCACTCGAGGCCCAAGTCGAG	0.483000													31	76					0	0	0.002445	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954379	10954379	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:10954379T>G	ENST00000240687.2	-	1	847	c.791A>C	c.(790-792)gAa>gCa	p.E264A		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	264					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						CACAGCTAATTCCGTCTCTGG	0.413000													37	40					0	0	0.004878	0	0
METTL21B	25895	broad.mit.edu	37	12	58174204	58174204	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:58174204C>T	ENST00000300209.8	+	3	581	c.456C>T	c.(454-456)atC>atT	p.I152I	METTL21B_ENST00000551420.1_5'UTR|RP11-571M6.15_ENST00000553083.1_Intron|RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000333012.5_3'UTR|METTL21B_ENST00000548256.1_3'UTR	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	152						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						GGGCTGATATCGTGTACCTGG	0.597000													40	4					0	0	0.003610	0	0
GALR1	2587	broad.mit.edu	37	18	74980625	74980625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:74980625G>A	ENST00000299727.3	+	3	817	c.817G>A	c.(817-819)Gga>Aga	p.G273R		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	273					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GGCTGAGTTTGGAGTTTTCCC	0.512000													67	48					0	0	0.003610	0	0
ZIC1	7545	broad.mit.edu	37	3	147131271	147131271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:147131271C>T	ENST00000282928.4	+	3	2006	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	426	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TCGCCCTCCTCCTCCGCAGTC	0.547000													21	48					0	0	0.002780	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056587	120056587	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:120056587G>A	ENST00000235547.6	+	4	586	c.447G>A	c.(445-447)ctG>ctA	p.L149L	HSD3B1_ENST00000369413.3_Silent_p.L147L|HSD3B1_ENST00000528909.1_Silent_p.L147L	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	147					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	AAGAGCCTCTGGAAAACACAT	0.527000													59	30					0	0	0.003610	0	0
ZNF506	440515	broad.mit.edu	37	19	19905888	19905888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:19905888C>T	ENST00000443905.2	-	4	955	c.808G>A	c.(808-810)Gca>Aca	p.A270T	CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.A270T|ZNF506_ENST00000450683.2_Missense_Mutation_p.A238T|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AAAAGGGTTGCAGGGTGGTTA	0.378000													13	25					0	0	0.002450	0	0
C3orf30	152405	broad.mit.edu	37	3	118867140	118867140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:118867140G>A	ENST00000295622.1	+	2	1552	c.1512G>A	c.(1510-1512)atG>atA	p.M504I	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	504										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TCCAATACATGGAAAAACACC	0.333000													21	28					0	0	0.001882	0	0
PCSK1	5122	broad.mit.edu	37	5	95746650	95746650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:95746650C>T	ENST00000311106.3	-	8	1160	c.923G>A	c.(922-924)gGa>gAa	p.G308E	PCSK1_ENST00000508626.1_Missense_Mutation_p.G261E|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	308	Catalytic.				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)	CCCCCCGTTTCCCGAAGCCCA	0.512000													81	13					0	0	0.003610	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175773	71175773	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:71175773C>T	ENST00000333538.5	+	10	2162	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	510	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAAGGCTTCCTGCACTTGGG	0.627000													37	114					0	0	0.002522	0	0
PCLO	27445	broad.mit.edu	37	7	82785130	82785130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:82785130C>T	ENST00000423517.2	-	2	1164	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R276Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	276	Gln-rich.|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						GGATGCATCTCGTTGAAGTGG	0.473000													61	31					0	0	0.003610	0	0
TRIM15	89870	broad.mit.edu	37	6	30135034	30135034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:30135034C>T	ENST00000376694.4	+	2	932	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	155					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						AGACCAGAAGCTTCAAGTGCT	0.502000													43	23					0	0	0.002852	0	0
CASP8	841	broad.mit.edu	37	2	202136301	202136301	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:202136301T>C	ENST00000358485.4	+	3	741	c.545T>C	c.(544-546)cTt>cCt	p.L182P	CASP8_ENST00000323492.7_Missense_Mutation_p.L123P|CASP8_ENST00000392266.3_Missense_Mutation_p.L123P|CASP8_ENST00000392258.3_Missense_Mutation_p.L123P|CASP8_ENST00000392259.2_Missense_Mutation_p.L123P|CASP8_ENST00000264274.9_Missense_Mutation_p.L123P|CASP8_ENST00000432109.2_Missense_Mutation_p.L123P|CASP8_ENST00000264275.5_Missense_Mutation_p.L155P	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	123					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTAAGTTTCTTTTGCAAGAG	0.418000										HNSCC(4;0.00038)			4	31					0	0	0.000602	0	0
NEURL1	9148	broad.mit.edu	37	10	105350068	105350068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:105350068C>T	ENST00000369780.4	+	6	2073	c.1664C>T	c.(1663-1665)gCc>gTc	p.A555V	NEURL_ENST00000369777.2_Missense_Mutation_p.A538V|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		555					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCTCTGCACGCCTGCTGCCCC	0.612000													15	11					0	0	0.002450	0	0
NNMT	4837	broad.mit.edu	37	11	114168749	114168749	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:114168749C>T	ENST00000535401.1	+	4	495	c.231C>T	c.(229-231)tcC>tcT	p.S77S	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Silent_p.S77S			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	77					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTTGTGAATCCTTTAAGGAGA	0.532000													37	21					0	0	0.001485	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21471798	21471798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:21471798C>T	ENST00000307378.6	-	4	840	c.120G>A	c.(118-120)atG>atA	p.M40I	SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.M40I|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.M38I|SLCO1A2_ENST00000473830.1_5'UTR	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	40					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GCATGGAATTCATATAAGATC	0.308000													37	36					0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179598097	179598097	+	Missense_Mutation	SNP	C	C	T	rs146847928	by1000genomes	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179598097C>T	ENST00000589042.1	-	54	16147	c.15923G>A	c.(15922-15924)cGa>cAa	p.R5308Q	TTN_ENST00000591111.1_Missense_Mutation_p.R4991Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4064Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4991	Ig-like 33.						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)			AAAACTTATTCGGTATTTTTT	0.473000													19	63					0	0	0.006122	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:55128600C>T	ENST00000370862.3	+	4	1078	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R248C(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)			GCAAATATTTCGCAAACTCTG	0.373000													6	20					0	0	0.001168	0	0
TRIM55	84675	broad.mit.edu	37	8	67039647	67039647	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:67039647G>A	ENST00000315962.4	+	1	517	c.144G>A	c.(142-144)agG>agA	p.R48R	TRIM55_ENST00000350034.4_Silent_p.R48R|TRIM55_ENST00000276573.7_Silent_p.R48R|TRIM55_ENST00000353317.5_Silent_p.R48R	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	48						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACCTGTGTAGGAAATGTGCCA	0.448000													69	106					0	0	0.003610	0	0
ITGA1	3672	broad.mit.edu	37	5	52204848	52204848	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:52204848G>C	ENST00000282588.6	+	13	2034	c.1576G>C	c.(1576-1578)Gtg>Ctg	p.V526L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	526					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GCAAGGAAAAGTGTATGTGTA	0.363000													5	45					0	0	0.000602	0	0
DHRS3	9249	broad.mit.edu	37	1	12639406	12639406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:12639406G>A	ENST00000376223.2	-	3	757	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	125					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ATGGACCACGGCGGCATTGTT	0.582000													45	10					0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	41306560	41306560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:41306560C>T	ENST00000373198.3	-	7	1334	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	PTPRT_ENST00000373184.1_Missense_Mutation_p.E367K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E367K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E367K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E367K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E367K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E367K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	367	Fibronectin type-III 1.				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)				GTACCCCCCTCACCTGGTCGT	0.557000													52	52					0	0	0.003610	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102449438	102449438	+	Silent	SNP	G	G	A	rs144254264		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:102449438G>A	ENST00000360184.4	+	6	1208	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	348	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGTCTGCCACGGAGCTGGACA	0.418000													36	7					0	0	0.003755	0	0
ROBO2	6092	broad.mit.edu	37	3	77671460	77671460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:77671460G>A	ENST00000461745.1	+	23	4537	c.3637G>A	c.(3637-3639)Gaa>Aaa	p.E1213K	ROBO2_ENST00000487694.3_Missense_Mutation_p.E1229K|ROBO2_ENST00000332191.8_Missense_Mutation_p.E1213K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1213					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTCTGATTTGGAAACGGATGT	0.478000													26	4					0	0	0.005443	0	0
FSIP2	401024	broad.mit.edu	37	2	186671159	186671159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:186671159C>T	ENST00000343098.5	+	17	17393	c.17393C>T	c.(17392-17394)cCc>cTc	p.P5798L	FSIP2_ENST00000424728.1_Missense_Mutation_p.P5709L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GACCAAAGCCCCCCAGGTGAT	0.338000													33	21					0	0	0.004878	0	0
KCNK2	3776	broad.mit.edu	37	1	215342659	215342659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:215342659C>T	ENST00000444842.2	+	4	743	c.593C>T	c.(592-594)aCc>aTc	p.T198I	KCNK2_ENST00000391895.2_Missense_Mutation_p.T194I|KCNK2_ENST00000391894.2_Missense_Mutation_p.T183I	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	198							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	cagctaggcaccatatttgga	0.363000													19	10					0	0	0.000958	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483237	54483237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:54483237C>T	ENST00000317802.7	-	1	172	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	18					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGCGGGTCTTCCAGAGCATAG	0.607000													33	94					0	0	0.001485	0	0
CFTR	1080	broad.mit.edu	37	7	117251635	117251635	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:117251635G>A	ENST00000003084.6	+	20	3272	c.3139_splice	c.e20-1	p.G1047_splice	CFTR_ENST00000454343.1_Splice_Site_p.G986_splice|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1047	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TATTTCACAGGCAGGAGTCCA	0.338000									Cystic Fibrosis				14	40					0	0	0.002450	0	0
PARN	5073	broad.mit.edu	37	16	14721147	14721147	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:14721147T>C	ENST00000437198.2	-	4	365	c.224A>G	c.(223-225)aAg>aGg	p.K75R	PARN_ENST00000539279.1_Intron|PARN_ENST00000420015.2_Intron|PARN_ENST00000341484.7_Missense_Mutation_p.K14R|PARN_ENST00000566021.1_5'UTR	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	75					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GTAGTCATACTTAAAAGTGCA	0.388000													3	9					0	0	0.004672	0	0
BTBD11	121551	broad.mit.edu	37	12	107914403	107914403	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:107914403C>T	ENST00000280758.5	+	2	1803	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	BTBD11_ENST00000490090.2_Silent_p.I425I|BTBD11_ENST00000420571.2_Silent_p.I425I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	425						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TAGGCAGCATCGCCGAATTGA	0.557000													42	7					0	0	0.001951	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17763933	17763933	+	RNA	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:17763933G>A	ENST00000458468.1	+	0	469					NR_027790.1																						ATACTTTTCAGGAGCTCTTTC	0.284000													9	14					0	0	0.004482	0	0
XKR5	389610	broad.mit.edu	37	8	6690401	6690401	+	RNA	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:6690401T>C	ENST00000518724.1	-	0	230							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGTGGTGAAGTAGTAAGCCAC	0.577000													14	13					0	0	0.004007	0	0
MORC1	27136	broad.mit.edu	37	3	108822720	108822720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:108822720C>T	ENST00000232603.5	-	4	281	c.199G>A	c.(199-201)Gat>Aat	p.D67N	MORC1_ENST00000483760.1_Missense_Mutation_p.D67N|MORC1-AS1_ENST00000480826.1_RNA	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	67					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CATCCATCATCCAGGAAACAC	0.363000													29	45					0	0	0.004289	0	0
OR4S2	219431	broad.mit.edu	37	11	55418383	55418383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:55418383G>A	ENST00000312422.2	+	1	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CCATTCCATGGAAAAAATAAA	0.328000													10	18					0	0	0.000443	0	0
COBLL1	22837	broad.mit.edu	37	2	165552277	165552277	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:165552277G>T	ENST00000375458.2	-	11	1846	c.1625C>A	c.(1624-1626)aCa>aAa	p.T542K	COBLL1_ENST00000194871.6_Missense_Mutation_p.T647K|COBLL1_ENST00000409184.3_Missense_Mutation_p.T580K|COBLL1_ENST00000392717.2_Missense_Mutation_p.T618K|COBLL1_ENST00000342193.4_Missense_Mutation_p.T580K	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	618										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATTGATTTCTGTTTTCTTCAC	0.318000													27	61					4.7796e-09	8.83577e-09	0.004656	1	0
LRP1B	53353	broad.mit.edu	37	2	141665549	141665549	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:141665549G>A	ENST00000389484.3	-	22	4388	c.3417C>T	c.(3415-3417)ccC>ccT	p.P1139P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1139	LDL-receptor class A 10.				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)		AAGGATGCTTGGGTGGTCCAC	0.468000										TSP Lung(27;0.18)			50	22					0	0	0.003610	0	0
PDILT	204474	broad.mit.edu	37	16	20386275	20386275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:20386275C>T	ENST00000302451.4	-	5	798	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	184					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACTTCTTCCTCTAAATCCTAT	0.433000													40	58					0	0	0.003610	0	0
ZP4	57829	broad.mit.edu	37	1	238048544	238048544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:238048544G>A	ENST00000366570.4	-	9	1390	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	411	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTGGTGAGAGGGAAATGGAAG	0.537000													17	29					0	0	0.004990	0	0
WDR7	23335	broad.mit.edu	37	18	54349978	54349978	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:54349978C>T	ENST00000254442.3	+	5	625	c.414C>T	c.(412-414)atC>atT	p.I138I	WDR7_ENST00000357574.3_Silent_p.I138I|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	138										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACCCTGAAATCCTTGTTGTGG	0.413000													48	41					0	0	0.003610	0	0
LMO7	4008	broad.mit.edu	37	13	76374938	76374938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:76374938C>T	ENST00000357063.3	+	8	1997	c.737C>T	c.(736-738)tCc>tTc	p.S246F	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.S155F|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.S246F|LMO7_ENST00000341547.4_Missense_Mutation_p.S246F			Q8WWI1	LMO7_HUMAN	LIM domain 7	246						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGAAGATTCCTTTGAAAGC	0.502000													41	117					0	0	0.001706	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280212	39280212	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:39280212A>C	ENST00000394014.1	-	1	207	c.163T>G	c.(163-165)Tgc>Ggc	p.C55G		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	55	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCTGACAGCACACAGACTGG	0.687000													54	4					0	0	0.003610	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001407	52001407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:52001407G>A	ENST00000291707.3	-	5	1325	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	SIGLEC12_ENST00000598614.1_Nonsense_Mutation_p.Q306*	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	424	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding	p.Q424*(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCGAGGACTGTGAGGGGCTC	0.622000													16	20					0	0	0.000958	0	0
WDR49	151790	broad.mit.edu	37	3	167322223	167322223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:167322223G>A	ENST00000453925.2	-	2	162	c.128C>T	c.(127-129)tCc>tTc	p.S43F	WDR49_ENST00000308378.3_5'UTR|WDR49_ENST00000479765.1_Missense_Mutation_p.S331F			Q8IV35	WDR49_HUMAN	WD repeat domain 49	165										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGTTGTACTGGAAATGATAGC	0.333000													15	12					0	0	0.003163	0	0
ANK1	286	broad.mit.edu	37	8	41530399	41530399	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:41530399G>A	ENST00000396942.1	-	38	4652	c.4569C>T	c.(4567-4569)tcC>tcT	p.S1523S	ANK1_ENST00000396945.1_Silent_p.S1523S|ANK1_ENST00000352337.4_Silent_p.S1523S|ANK1_ENST00000379758.2_Silent_p.S1523S|ANK1_ENST00000289734.7_Silent_p.S1523S|ANK1_ENST00000265709.8_Silent_p.S1564S|ANK1_ENST00000347528.4_Silent_p.S1523S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1523	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGAGGCAGGGGACAGCAGCT	0.622000													6	17					0	0	0.001984	0	0
ZNF501	115560	broad.mit.edu	37	3	44776024	44776024	+	Silent	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:44776024T>C	ENST00000396048.2	+	3	548	c.111T>C	c.(109-111)ctT>ctC	p.L37L		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GATCATCTCTTACCCAGCACC	0.418000													26	1					0	0	0.001061	0	0
CD36	948	broad.mit.edu	37	7	80303373	80303373	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:80303373G>A	ENST00000435819.1	+	17	2013	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	CD36_ENST00000394788.3_Silent_p.L443L|CD36_ENST00000534394.1_Silent_p.L367L|CD36_ENST00000447544.2_Silent_p.L443L|CD36_ENST00000538969.1_Silent_p.L383L|CD36_ENST00000432207.1_Silent_p.L443L|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000309881.7_Silent_p.L443L|CD36_ENST00000433696.2_Silent_p.L404L			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	443					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TCCTTGGCCTGATAGAAATGA	0.348000													27	16					0	0	0.004656	0	0
KCND2	3751	broad.mit.edu	37	7	120387884	120387884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:120387884G>A	ENST00000331113.4	+	6	2830	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	622					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TACTCAGGAGGAAATATTGTC	0.423000													26	21					0	0	0.001512	0	0
PYHIN1	149628	broad.mit.edu	37	1	158909006	158909006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:158909006C>T	ENST00000368140.1	+	4	793	c.548C>T	c.(547-549)tCa>tTa	p.S183L	PYHIN1_ENST00000392252.3_Missense_Mutation_p.S174L|PYHIN1_ENST00000392254.2_Missense_Mutation_p.S183L|PYHIN1_ENST00000368135.4_Missense_Mutation_p.S183L|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S174L	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	183					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAGACCTCATCATCAGCTCCA	0.507000													39	13					0	0	0.002222	0	0
MDC1	9656	broad.mit.edu	37	6	30670548	30670548	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:30670548C>A	ENST00000376406.3	-	13	6619	c.5972G>T	c.(5971-5973)cGg>cTg	p.R1991L	MDC1_ENST00000376405.2_Missense_Mutation_p.R1727L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1991	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.R1991L(1)		breast(2)|kidney(1)|ovary(1)	4						CCTTCGCTCCCGAGCCCTGCT	0.507000								Other conserved DNA damage response genes					7	127					0.00307968	0.00560619	0.003080	1	0
KHK	3795	broad.mit.edu	37	2	27317426	27317426	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:27317426C>T	ENST00000260599.6	+	3	804	c.291C>T	c.(289-291)gcC>gcT	p.A97A	KHK_ENST00000260598.5_Intron|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	97					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCATCGCCACGGTCATCA	0.572000													17	59					0	0	0.000958	0	0
TTN	7273	broad.mit.edu	37	2	179613305	179613305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179613305G>A	ENST00000360870.5	-	46	14044	c.13822C>T	c.(13822-13824)Cct>Tct	p.P4608S	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	727	Ig-like 26.						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)			GTGTCAGCAGGATGTTGGATT	0.368000													67	37					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9047336	9047336	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9047336G>C	ENST00000397910.4	-	5	34498	c.34295C>G	c.(34294-34296)aCa>aGa	p.T11432R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11434	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						AAATGAGGTTGTGGTCTCTGG	0.473000													10	115					0	0	0.000673	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270195	1270195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:1270195G>A	ENST00000348261.5	+	35	6511	c.6263G>A	c.(6262-6264)gGa>gAa	p.G2088E	CACNA1H_ENST00000565831.1_Missense_Mutation_p.G2082E|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G2082E	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2088					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCCCAGGCGGAGAGGAGGCC	0.731000													19	16					0	0	0.002299	0	0
DAOA	267012	broad.mit.edu	37	13	106119401	106119401	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:106119401G>A	ENST00000375936.3	+	2	90		c.e2-1		DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator							Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTAATTTTTAGATCCAGATAT	0.333000													26	11					0	0	0.003954	0	0
PRSS42	339906	broad.mit.edu	37	3	46874545	46874545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:46874545G>A	ENST00000447340.1	-	2	264	c.211C>T	c.(211-213)Cct>Tct	p.P71S	PRSS42_ENST00000429665.1_Missense_Mutation_p.P175S			Q7Z5A4	PRS42_HUMAN	protease, serine, 42	175					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AAATTCACAGGATGTTGGAGC	0.498000													37	8					0	0	0.004289	0	0
UBE3C	9690	broad.mit.edu	37	7	156967666	156967666	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:156967666G>A	ENST00000348165.5	+	5	756	c.396G>A	c.(394-396)ttG>ttA	p.L132L	UBE3C_ENST00000389103.4_Silent_p.L89L	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	132					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCAAGCAGTTGGATGGATCTG	0.318000													17	87					0	0	0.000958	0	0
DYSF	8291	broad.mit.edu	37	2	71730396	71730396	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:71730396C>T	ENST00000258104.3	+	4	566	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	DYSF_ENST00000409582.3_Silent_p.L97L|DYSF_ENST00000409366.1_Silent_p.L98L|DYSF_ENST00000394120.2_Silent_p.L98L|DYSF_ENST00000409744.1_Silent_p.L98L|DYSF_ENST00000409762.1_Silent_p.L97L|DYSF_ENST00000413539.2_Silent_p.L97L|DYSF_ENST00000409651.1_Silent_p.L98L|DYSF_ENST00000410041.1_Silent_p.L98L|DYSF_ENST00000410020.3_Silent_p.L98L|DYSF_ENST00000429174.2_Silent_p.L97L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	97						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CACCCCTAGTCTGTCCGCCAG	0.582000													25	89					0	0	0.001271	0	0
C11orf53	341032	broad.mit.edu	37	11	111156735	111156735	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:111156735G>T	ENST00000280325.4	+	4	814	c.667G>T	c.(667-669)Ggg>Tgg	p.G223W		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	223										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GAAAGAAGATGGGAGTATTGC	0.522000													19	42					1.56452e-12	2.91867e-12	0.000958	1	0
CCDC87	55231	broad.mit.edu	37	11	66358614	66358614	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:66358614C>A	ENST00000333861.3	-	1	1940	c.1873G>T	c.(1873-1875)Gtg>Ttg	p.V625L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	625										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGGGGCCACAATCTCCACA	0.478000													23	44					2.21704e-12	4.13056e-12	0.002780	1	0
IGHV1-24	28467	broad.mit.edu	37	14	106733470	106733470	+	RNA	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:106733470G>A	ENST00000390610.2	-	0	106																											ACAGAGGAGTGGATGAGACAC	0.587000													43	69					0	0	0.001951	0	0
PRB4	5545	broad.mit.edu	37	12	11461501	11461501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:11461501C>T	ENST00000279575.1	-	3	449	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PRB4_ENST00000535904.1_Missense_Mutation_p.G139E|PRB4_ENST00000445719.2_Intron	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	202	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCTGGCTTTCCTGGAGGAGG	0.602000										HNSCC(22;0.051)			100	142					0	0	0.003610	0	0
POLRMT	5442	broad.mit.edu	37	19	621728	621728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:621728G>A	ENST00000588649.2	-	10	2054	c.1970C>T	c.(1969-1971)tCg>tTg	p.S657L		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	657					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGAGTGCGGCGATGTCCAGGG	0.682000													12	20					0	0	0.000978	0	0
EBF2	64641	broad.mit.edu	37	8	25899683	25899683	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:25899683C>T	ENST00000520164.1	-	2	753	c.216G>A	c.(214-216)gcG>gcA	p.A72A		NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	72					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTCATAGAGCGCCAGGACGA	0.577000													29	46					0	0	0.001271	0	0
CDSN	1041	broad.mit.edu	37	6	31084720	31084720	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:31084720G>A	ENST00000376288.2	-	2	698	c.672C>T	c.(670-672)gaC>gaT	p.D224D	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	224	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TGCAGGGAGAGTCGGGGATGT	0.627000													29	28					0	0	0.001512	0	0
GRM8	2918	broad.mit.edu	37	7	126249496	126249496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:126249496C>T	ENST00000339582.2	-	8	2222	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N	GRM8_ENST00000444921.2_Missense_Mutation_p.D472N|GRM8_ENST00000358373.3_Missense_Mutation_p.D472N|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000405249.1_Missense_Mutation_p.M495I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	472					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGGAAGATATCATAACGTCCA	0.368000										HNSCC(24;0.065)			82	40					0	0	0.003610	0	0
FAM219A	203259	broad.mit.edu	37	9	34401682	34401682	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:34401682G>A	ENST00000445726.1	-	5	687	c.381C>T	c.(379-381)tcC>tcT	p.S127S	FAM219A_ENST00000379084.1_Silent_p.S109S|FAM219A_ENST00000379089.1_Silent_p.S126S|FAM219A_ENST00000379080.1_Silent_p.S115S|FAM219A_ENST00000297620.4_Silent_p.S110S|FAM219A_ENST00000379087.1_Silent_p.S109S|FAM219A_ENST00000379081.1_Silent_p.S98S	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	127																	AGGAGTAGCCGGAGGAGGAGT	0.547000													10	1					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9075414	9075414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9075414G>A	ENST00000397910.4	-	3	12235	c.12032C>T	c.(12031-12033)tCc>tTc	p.S4011F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4013	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						AGTCAAGAAGGAATTAGGCTC	0.478000													26	35					0	0	0.003954	0	0
CSMD1	64478	broad.mit.edu	37	8	2944702	2944702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:2944702C>T	ENST00000602557.1	-	50	7949	c.7394G>A	c.(7393-7395)cGa>cAa	p.R2465Q	CSMD1_ENST00000400186.3_Missense_Mutation_p.R2465Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2464Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2464Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2465Q|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2465Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2465	Sushi 14.					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)		GCCGACCATTCGGTATCCAGG	0.517000													33	23					0	0	0.002836	0	0
PCM1	5108	broad.mit.edu	37	8	17843498	17843498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:17843498C>T	ENST00000325083.8	+	26	4751	c.4312C>T	c.(4312-4314)Cat>Tat	p.H1438Y	PCM1_ENST00000327578.8_Missense_Mutation_p.H137Y|PCM1_ENST00000519253.1_Missense_Mutation_p.H1438Y|PCM1_ENST00000524226.1_Missense_Mutation_p.H1384Y	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1438	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTCTGAGAGCCATGAAAAAGG	0.318000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								22	20					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179485149	179485149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179485149C>T	ENST00000589042.1	-	248	46323	c.46099G>A	c.(46099-46101)Gat>Aat	p.D15367N	TTN_ENST00000591111.1_Missense_Mutation_p.D13726N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6494N|TTN_ENST00000359218.5_Missense_Mutation_p.D6427N|TTN_ENST00000342992.6_Missense_Mutation_p.D12799N|TTN_ENST00000460472.2_Missense_Mutation_p.D6302N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13726	Ig-like 97.						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)			TCACCTTCATCTGGGAAGCCA	0.423000													37	94					0	0	0.003755	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170795	207170795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:207170795G>A	ENST00000374423.3	+	5	1929	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	515							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						ATCTGTAACAGAAGTAAACCT	0.423000													31	23					0	0	0.001786	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596309	24596309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:24596309G>A	ENST00000535378.1	-	4	1208	c.566C>T	c.(565-567)tCt>tTt	p.S189F	KIAA0319_ENST00000378214.3_Missense_Mutation_p.S198F|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S198F|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S198F|KIAA0319_ENST00000430948.2_Missense_Mutation_p.S153F	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	198					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTCTCCAACAGAGGAGTTGAA	0.627000													6	26					0	0	0.001168	0	0
CDH9	1007	broad.mit.edu	37	5	26915903	26915903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:26915903C>T	ENST00000231021.4	-	3	530	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	120	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGAGATTTTTCTTCTCTGTCT	0.373000													56	70					0	0	0.003610	0	0
RASGRP4	115727	broad.mit.edu	37	19	38916724	38916724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:38916724C>T	ENST00000454404.2	-	1	221	c.8G>A	c.(7-9)aGa>aAa	p.R3K	RASGRP4_ENST00000586305.1_Missense_Mutation_p.R3K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R3K|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R3K|RASGRP4_ENST00000587738.1_Missense_Mutation_p.R3K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R3K|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R3K	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	3					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	p.R3I(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTGTCTTTTCTGTTCATGCT	0.652000													6	10					0	0	0.003080	0	0
FMO2	2327	broad.mit.edu	37	1	171165931	171165931	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:171165931C>T	ENST00000441535.1	+	4	582	c.465C>T	c.(463-465)atC>atT	p.I155I	FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Silent_p.I155I|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	155					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TACCTCATATCCCACTGAAGT	0.488000													10	65					0	0	0.000443	0	0
COL4A4	1286	broad.mit.edu	37	2	227920702	227920702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:227920702G>A	ENST00000396625.3	-	30	2882	c.2675C>T	c.(2674-2676)cCc>cTc	p.P892L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P892L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	892	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCTCCAAAGGGACCTGGGAT	0.592000													32	17					0	0	0.002096	0	0
ZNF536	9745	broad.mit.edu	37	19	30935918	30935918	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:30935918G>A	ENST00000355537.3	+	2	1596	c.1449G>A	c.(1447-1449)ggG>ggA	p.G483G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCCGGAGGGGGACAAGCACT	0.657000													26	43					0	0	0.001271	0	0
IP6K3	117283	broad.mit.edu	37	6	33694580	33694580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:33694580G>A	ENST00000451316.1	-	5	1052	c.517C>T	c.(517-519)Ccg>Tcg	p.P173S	IP6K3_ENST00000293756.4_Missense_Mutation_p.P173S	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	173					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						AGGCCCCACGGGTTGAAGCTC	0.612000													17	53					0	0	0.004007	0	0
IKZF2	22807	broad.mit.edu	37	2	213921707	213921707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:213921707C>T	ENST00000457361.1	-	4	424	c.256G>A	c.(256-258)Gag>Aag	p.E86K	IKZF2_ENST00000413091.3_Missense_Mutation_p.E86K|IKZF2_ENST00000342002.2_Missense_Mutation_p.E92K|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000374319.4_Missense_Mutation_p.E86K|IKZF2_ENST00000451136.2_Missense_Mutation_p.E86K|IKZF2_ENST00000421754.2_Missense_Mutation_p.E86K|IKZF2_ENST00000434687.1_Missense_Mutation_p.E86K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E86K(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCGCTGCTCTCAATTAGGGGT	0.522000													10	37					0	0	0.000978	0	0
NEB	4703	broad.mit.edu	37	2	152424920	152424920	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:152424920C>T	ENST00000427231.2	-	112	17848	c.17646G>A	c.(17644-17646)cgG>cgA	p.R5882R	NEB_ENST00000603639.1_Silent_p.R5882R|NEB_ENST00000397345.3_Silent_p.R5882R|NEB_ENST00000604864.1_Silent_p.R5882R|NEB_ENST00000172853.10_Silent_p.R4181R|NEB_ENST00000409198.1_Silent_p.R4181R	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5903					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCAGTCTTTCCGGTATTTAA	0.443000													10	41					0	0	0.000978	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173659871	173659871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:173659871G>A	ENST00000264111.6	+	2	371	c.184G>A	c.(184-186)Gag>Aag	p.E62K	RAPGEF4_ENST00000397081.3_Missense_Mutation_p.E62K|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E62K			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	62					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGGTTATTATGAGAATCTGGA	0.328000													70	31					0	0	0.003610	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129336	52129336	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:52129336C>T	ENST00000222107.4	-	8	1551	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	SIGLEC5_ENST00000429354.3_Silent_p.G471G|SIGLEC5_ENST00000570106.2_Silent_p.G471G|SIGLEC5_ENST00000534261.2_Silent_p.G471G|SIGLEC5_ENST00000599649.1_Silent_p.G471G			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	471					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCTCTGGTCTCCCAGCTGCTT	0.542000													21	37					0	0	0.002780	0	0
DEFB116	245930	broad.mit.edu	37	20	29891093	29891093	+	Silent	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:29891093A>G	ENST00000400549.1	-	2	230	c.231T>C	c.(229-231)agT>agC	p.S77S		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	77					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CATTTTTAGAACTGGTTATTT	0.398000													74	114					0	0	0.003610	0	0
ABCA13	154664	broad.mit.edu	37	7	48559869	48559869	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:48559869G>T	ENST00000435803.1	+	53	14054	c.14030G>T	c.(14029-14031)tGg>tTg	p.W4677L	ABCA13_ENST00000544596.1_Missense_Mutation_p.W407L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4677					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGCTACACTGGGACCTTCTG	0.512000													4	17					0.000602214	0.00110188	0.000602	1	0
ZNF366	167465	broad.mit.edu	37	5	71756214	71756214	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:71756214G>A	ENST00000318442.5	-	2	1600	c.1110C>T	c.(1108-1110)tgC>tgT	p.C370C		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGTCGAGGCCGCACTCCACAC	0.647000													21	2					0	0	0.004656	0	0
ZPBP	11055	broad.mit.edu	37	7	50097584	50097584	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:50097584C>A	ENST00000046087.2	-	4	557		c.e4+1		ZPBP_ENST00000419417.1_Splice_Site	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein						binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTACTTCTTACCATATATAGC	0.279000													6	9					3.59834e-05	6.6008e-05	0.001168	1	0
ZNF445	353274	broad.mit.edu	37	3	44488675	44488675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:44488675C>T	ENST00000425708.2	-	7	2829	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	ZNF445_ENST00000396077.2_Missense_Mutation_p.E830K			P59923	ZN445_HUMAN	zinc finger protein 445	830					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ATTTTTGGCTCCACATTTGGA	0.403000													50	14					0	0	0.003610	0	0
SLC12A8	84561	broad.mit.edu	37	3	124807214	124807214	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:124807214C>T	ENST00000423114.2	-	13	2008	c.2008_splice	c.e13-1	p.G670_splice	SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000393469.4_Splice_Site_p.G641_splice|SLC12A8_ENST00000469902.1_Splice_Site_p.G641_splice|SLC12A8_ENST00000430155.2_Splice_Site_p.G442_splice|SLC12A8_ENST00000465475.1_Intron			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	641					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GGAGGCTGATCCTGCAGGGAA	0.463000													16	16					0	0	0.004990	0	0
CHAT	1103	broad.mit.edu	37	10	50828603	50828603	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:50828603C>T	ENST00000395562.2	+	5	865	c.396C>T	c.(394-396)tcC>tcT	p.S132S	CHAT_ENST00000351556.3_Silent_p.S96S|CHAT_ENST00000395559.2_Silent_p.S96S|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Silent_p.S96S|CHAT_ENST00000455728.2_Silent_p.S96S|CHAT_ENST00000337653.2_Silent_p.S214S	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	214					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTGTCAACTCCAGCCCTGCCG	0.617000													19	20					0	0	0.001216	0	0
AZI1	22994	broad.mit.edu	37	17	79168728	79168728	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:79168728G>A	ENST00000269392.4	-	17	2317	c.2070C>T	c.(2068-2070)gcC>gcT	p.A690A	AZI1_ENST00000575907.1_Silent_p.A690A|AZI1_ENST00000450824.2_Silent_p.A687A|AZI1_ENST00000374782.3_Silent_p.A687A	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	690					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCTCCCGGCGGGCTTTCTCGG	0.572000													113	24					0	0	0.003610	0	0
PDCD6	10016	broad.mit.edu	37	5	271859	271859	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:271859C>T	ENST00000509581.1	+	1	88	c.24C>T	c.(22-24)ccC>ccT	p.P8P	PDCD6_ENST00000264933.4_Silent_p.P8P|PDCD6_ENST00000505221.1_Silent_p.P8P|PDCD6_ENST00000507528.1_Silent_p.P8P			O75340	PDCD6_HUMAN	programmed cell death 6	8					induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding	p.A12_G15delAGPG(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			CTTACCGCCCCGGCCCTGGGG	0.736000													19	11					0	0	0.001882	0	0
S100G	795	broad.mit.edu	37	X	16669154	16669154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:16669154G>A	ENST00000380200.3	+	2	79	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	CTPS2_ENST00000380241.3_Intron|CTPS2_ENST00000443824.1_Intron|CTPS2_ENST00000359276.4_Intron	NM_004057.2	NP_004048.1	P29377	S100G_HUMAN	S100 calcium binding protein G	9							calcium ion binding|vitamin D binding			large_intestine(1)|lung(1)	2	Hepatocellular(33;0.0997)					GTCTCCTGAGGAACTGAAGAG	0.393000													41	4					0	0	0.001485	0	0
SF1	7536	broad.mit.edu	37	11	64537796	64537796	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:64537796C>T	ENST00000377390.3	-	4	658	c.321G>A	c.(319-321)gaG>gaA	p.E107E	SF1_ENST00000377387.1_Silent_p.E232E|SF1_ENST00000377394.3_Silent_p.E107E|SF1_ENST00000334944.5_Silent_p.E107E|SF1_ENST00000433274.2_Silent_p.E81E|SF1_ENST00000227503.9_Silent_p.E107E|SF1_ENST00000422298.2_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	107					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGTGCCGCTCCTCTTCCAGCT	0.552000													10	77					0	0	0.001368	0	0
SH2D6	284948	broad.mit.edu	37	2	85663599	85663599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:85663599C>T	ENST00000389938.2	+	20	1640	c.326C>T	c.(325-327)tCc>tTc	p.S109F	SH2D6_ENST00000340326.2_Missense_Mutation_p.S141F|SH2D6_ENST00000481426.2_3'UTR			Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	141	SH2.									central_nervous_system(1)|lung(2)	3						CTCTTCTCCTCCGTGGCGGCC	0.632000													17	6					0	0	0.000958	0	0
IGSF1	3547	broad.mit.edu	37	X	130409561	130409561	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:130409561G>A	ENST00000370904.1	-	22	3958	c.3048C>T	c.(3046-3048)atC>atT	p.I1016I	IGSF1_ENST00000370903.3_Silent_p.I1030I|IGSF1_ENST00000361420.3_Silent_p.I1025I|IGSF1_ENST00000370910.1_Silent_p.I1016I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1025	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ATATATTGGTGATGGGGAATG	0.522000													29	3					0	0	0.001271	0	0
FHL3	2275	broad.mit.edu	37	1	38463121	38463121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:38463121C>T	ENST00000373016.3	-	6	967	c.799G>A	c.(799-801)Gga>Aga	p.G267R	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	267	LIM zinc-binding 4.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTTGGTCTCCATCCGGTACG	0.632000													11	57					0	0	0.000673	0	0
ZNF92	168374	broad.mit.edu	37	7	64852833	64852833	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:64852833G>T	ENST00000328747.7	+	2	221	c.22G>T	c.(22-24)Gat>Tat	p.D8Y	ZNF92_ENST00000450302.2_Intron|ZNF92_ENST00000431504.1_Intron|ZNF92_ENST00000357512.2_Missense_Mutation_p.D8Y	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	8	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GACATTTAGGGATGTGAAAAT	0.403000													21	55					1.55795e-14	2.91401e-14	0.001882	1	0
B3GALT1	8708	broad.mit.edu	37	2	168725653	168725653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:168725653C>T	ENST00000305861.1	+	2	455	c.104C>T	c.(103-105)tCc>tTc	p.S35F	B3GALT1_ENST00000392690.2_Missense_Mutation_p.S35F|AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	35					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TACACTGGCTCCAAACCATTC	0.443000													22	83					0	0	0.002299	0	0
AP2A2	161	broad.mit.edu	37	11	993865	993865	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:993865G>A	ENST00000448903.2	+	13	1803	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V	AP2A2_ENST00000332231.5_Silent_p.V555V|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	554					axon guidance|endocytosis|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|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCCGGAGGTGAAGCCCACCA	0.637000													6	1					0	0	0.001168	0	0
OR4N4	283694	broad.mit.edu	37	15	22383168	22383168	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:22383168G>A	ENST00000328795.4	+	1	787	c.696G>A	c.(694-696)ggG>ggA	p.G232G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	232					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)		CTTCTGAAGGGAAGAACAAGG	0.498000													42	146					0	0	0.001951	0	0
SPTA1	6708	broad.mit.edu	37	1	158604384	158604384	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:158604384C>T	ENST00000368148.3	-	39	5694	c.5514G>A	c.(5512-5514)aaG>aaA	p.K1838K	SPTA1_ENST00000368147.3_Silent_p.K1838K|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1838					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)					CCAAAGCATTCTTTTCATTGA	0.408000													37	19					0	0	0.001951	0	0
ACBD3	64746	broad.mit.edu	37	1	226352628	226352628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:226352628C>T	ENST00000366812.5	-	3	485	c.431G>A	c.(430-432)aGa>aAa	p.R144K		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	144	ACB.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGCCCATTCTCTCCTGTAAGG	0.363000													8	25					0	0	0.003080	0	0
SLC4A5	57835	broad.mit.edu	37	2	74491356	74491356	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:74491356G>A	ENST00000394019.2	-	10	1030	c.633C>T	c.(631-633)gtC>gtT	p.V211V	SLC4A5_ENST00000359484.4_Silent_p.V147V|SLC4A5_ENST00000358683.4_Silent_p.V147V|SLC4A5_ENST00000357822.5_Silent_p.V211V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Silent_p.V211V|SLC4A5_ENST00000423644.1_Silent_p.V211V|SLC4A5_ENST00000377632.1_Silent_p.V211V|SLC4A5_ENST00000377634.4_Silent_p.V211V|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	211						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCCTCAGGAGGACGTAACTGA	0.552000													6	29					0	0	0.001984	0	0
ZNF71	58491	broad.mit.edu	37	19	57132840	57132840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:57132840C>T	ENST00000328070.6	+	3	419	c.185C>T	c.(184-186)cCc>cTc	p.P62L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	62						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TTGGGAATTCCCCAGGGGAAC	0.617000													9	14					0	0	0.004482	0	0
ZFAT	57623	broad.mit.edu	37	8	135614509	135614509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:135614509G>A	ENST00000520727.1	-	7	1716	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	ZFAT_ENST00000523399.1_Nonsense_Mutation_p.Q423*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.Q473*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.Q485*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.Q473*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.Q473*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAGGCCTCCTGGGCAGCCCCG	0.602000													16	17					0	0	0.004007	0	0
FPR2	2358	broad.mit.edu	37	19	52272677	52272677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:52272677C>T	ENST00000598776.1	+	2	1538	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	FPR2_ENST00000340023.6_Missense_Mutation_p.P256S|FPR2_ENST00000598953.1_Missense_Mutation_p.P256S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	256					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.P256S(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGTTGGTTTCCCTTTCAACT	0.488000													22	24					0	0	0.001882	0	0
KMT2B	9757	broad.mit.edu	37	19	36217192	36217192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:36217192G>A	ENST00000420124.1	+	14	3941	c.3941G>A	c.(3940-3942)tGg>tAg	p.W1314*	WBP7_ENST00000222270.7_Nonsense_Mutation_p.W1314*|KMT2B_ENST00000607650.1_RNA																							GGCAAGAACTGGGACGTCGAG	0.607000													26	32					0	0	0.003755	0	0
TIGD3	220359	broad.mit.edu	37	11	65123630	65123630	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:65123630C>T	ENST00000309880.5	+	2	558	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	117	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCCAGGACTTCGTGCCCAGCA	0.642000													31	13					0	0	0.001512	0	0
BTN1A1	696	broad.mit.edu	37	6	26509210	26509210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:26509210G>A	ENST00000244513.6	+	7	1455	c.1389G>A	c.(1387-1389)tgG>tgA	p.W463*		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	463	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TTTGCCTATGGTCTAGCGGTA	0.493000													24	49					0	0	0.005443	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812836	31812836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:31812836C>T	ENST00000334067.3	+	1	240	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	64						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGCCAGACATCCTGCACTTTG	0.512000													28	58					0	0	0.004656	0	0
PSG8	440533	broad.mit.edu	37	19	43268361	43268361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:43268361G>A	ENST00000404209.4	-	2	233	c.137C>T	c.(136-138)tCt>tTt	p.S46F	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.S46F|PSG8_ENST00000306511.4_Missense_Mutation_p.S46F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	46	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTTCCCCTCAGAAACTTTGGT	0.473000													83	100					0	0	0.003610	0	0
FCRL3	115352	broad.mit.edu	37	1	157665985	157665985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:157665985C>T	ENST00000368184.3	-	7	1268	c.977G>A	c.(976-978)gGa>gAa	p.G326E	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.G326E|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	326	Ig-like C2-type 4.					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)					TCTTACTCTTCCTTCTTTGTG	0.527000													32	23					0	0	0.003755	0	0
COL14A1	7373	broad.mit.edu	37	8	121282290	121282290	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:121282290G>A	ENST00000297848.3	+	26	3360	c.3090G>A	c.(3088-3090)aaG>aaA	p.K1030K	COL14A1_ENST00000247781.3_Silent_p.K935K|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.K1030K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1030					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)			AGGCGGCCAAGGCTGACCTGG	0.403000													33	39					0	0	0.003755	0	0
ACD	65057	broad.mit.edu	37	16	67694176	67694176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:67694176C>T	ENST00000219251.8	-	1	537	c.206G>A	c.(205-207)tGg>tAg	p.W69*	ACD_ENST00000393919.4_Nonsense_Mutation_p.W69*	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	69					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGCGGGCGCCCAGGCCCCGCC	0.736000													27	17					0	0	0.004656	0	0
DMBT1	1755	broad.mit.edu	37	10	124348527	124348527	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:124348527C>T	ENST00000338354.3	+	17	1957	c.1851C>T	c.(1849-1851)gtC>gtT	p.V617V	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Silent_p.V607V|DMBT1_ENST00000344338.3_Silent_p.V607V|DMBT1_ENST00000368909.3_Silent_p.V617V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	617	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAGTGGAGGTCCTATACCGAG	0.577000													62	94					0	0	0.003610	0	0
MBL2	4153	broad.mit.edu	37	10	54528045	54528045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:54528045C>T	ENST00000373968.3	-	4	663	c.599G>A	c.(598-600)gGa>gAa	p.G200E		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	200	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CAGTCTATTTCCTGTCAGATC	0.463000													56	86					0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181686402	181686402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:181686402C>T	ENST00000526775.1	+	11	1654	c.1489C>T	c.(1489-1491)Cat>Tat	p.H497Y	CACNA1E_ENST00000367570.1_Missense_Mutation_p.H497Y|CACNA1E_ENST00000367567.4_Missense_Mutation_p.H104Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H448Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H497Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H448Y|CACNA1E_ENST00000367573.2_Missense_Mutation_p.H497Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	497					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCCATTGTCCATCACAACCA	0.542000													35	17					0	0	0.001706	0	0
MUC16	94025	broad.mit.edu	37	19	9077007	9077007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9077007C>T	ENST00000397910.4	-	3	10642	c.10439G>A	c.(10438-10440)gGa>gAa	p.G3480E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3481	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						GCTTGTTTTTCCTCCTGAGGG	0.488000													18	17					0	0	0.006122	0	0
ASTN1	460	broad.mit.edu	37	1	176993846	176993846	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:176993846C>T	ENST00000367654.2	-	6	1156	c.1143G>A	c.(1141-1143)gtG>gtA	p.V381V	ASTN1_ENST00000361833.2_Silent_p.V381V|ASTN1_ENST00000424564.2_Silent_p.V381V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.V381V			O14525	ASTN1_HUMAN	astrotactin 1	381					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGTCTTATTCACAGGACTTC	0.498000													11	8					0	0	0.001368	0	0
C8orf31	286122	broad.mit.edu	37	8	144126123	144126123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:144126123G>A	ENST00000395172.1	+	4	596	c.244G>A	c.(244-246)Gga>Aga	p.G82R	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	82										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCACTTTCTGGGAGACACAGA	0.622000													24	26					0	0	0.001271	0	0
RP1	6101	broad.mit.edu	37	8	55539216	55539216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:55539216C>T	ENST00000220676.1	+	4	2922	c.2774C>T	c.(2773-2775)cCa>cTa	p.P925L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	925					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACATAAATCCATATCCAACT	0.333000													13	23					0	0	0.001368	0	0
ZG16B	124220	broad.mit.edu	37	16	2881920	2881920	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:2881920C>T	ENST00000382280.3	+	4	466	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ZG16B_ENST00000572863.1_Silent_p.F99F	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	129						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TCCAAGCTTTCCTCCGGGGTA	0.547000													37	39					0	0	0.001706	0	0
THSD7A	221981	broad.mit.edu	37	7	11418889	11418889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:11418889C>T	ENST00000423059.3	-	26	4860	c.4609G>A	c.(4609-4611)Gaa>Aaa	p.E1537K	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1537						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TACCCTTCTTCACAATGGCAT	0.443000										HNSCC(18;0.044)			38	26					0	0	0.001706	0	0
CECR2	27443	broad.mit.edu	37	22	17976607	17976607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:17976607G>A	ENST00000262608.8	+	2	271	c.271G>A	c.(271-273)Gat>Aat	p.D91N	CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.D90N|CECR2_ENST00000400573.4_Missense_Mutation_p.D110N	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	132					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGATGTCTTCGATCTTCTAAA	0.502000													30	105					0	0	0.002096	0	0
OLFML3	56944	broad.mit.edu	37	1	114523630	114523630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:114523630C>T	ENST00000369551.1	+	4	688	c.400C>T	c.(400-402)Cca>Tca	p.P134S	OLFML3_ENST00000320334.4_Missense_Mutation_p.P154S|OLFML3_ENST00000393300.2_Missense_Mutation_p.P134S|OLFML3_ENST00000491700.1_3'UTR			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	154	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTGGTGGCCCAGCTGGTCT	0.473000													15	7					0	0	0.004007	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220139	13220139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:13220139C>T	ENST00000197268.8	+	7	1171	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	351						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GGCCCAAAATCGAGACAGCTC	0.458000													42	49					0	0	0.001951	0	0
C10orf2	56652	broad.mit.edu	37	10	102753064	102753064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:102753064C>T	ENST00000311916.2	+	5	2037	c.1852C>T	c.(1852-1854)Ccg>Tcg	p.P618S	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	618	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTGTCTTCCCGCTTGAGTT	0.517000													26	33					0	0	0.001512	0	0
PI16	221476	broad.mit.edu	37	6	36930773	36930773	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:36930773T>C	ENST00000373674.3	+	5	983	c.655T>C	c.(655-657)Ttc>Ctc	p.F219L	PI16_ENST00000491324.1_3'UTR	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	219						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCCCATCCTTCCGGGCGAC	0.542000													24	18					0	0	0.003954	0	0
BCCIP	56647	broad.mit.edu	37	10	127520114	127520114	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:127520114C>T	ENST00000299130.3	+	5	549	c.537C>T	c.(535-537)ctC>ctT	p.L179L	BCCIP_ENST00000429863.2_Silent_p.L149L|BCCIP_ENST00000368759.5_Silent_p.L179L|BCCIP_ENST00000278100.6_Silent_p.L179L	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	179	Interaction with CDKN1A.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGGGCCTTCTCCTAAGTGAAA	0.428000													9	12					0	0	0.000673	0	0
TCTN2	79867	broad.mit.edu	37	12	124172683	124172683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:124172683C>T	ENST00000303372.5	+	7	978	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	TCTN2_ENST00000426174.2_Missense_Mutation_p.P283S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	284					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACAAGGAGATCCCATTATGAC	0.353000													63	6					0	0	0.003610	0	0
CDYL2	124359	broad.mit.edu	37	16	80638443	80638443	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:80638443C>T	ENST00000299564.8	-	7	1518	c.1362_splice	c.e7-1	p.V455_splice	CDYL2_ENST00000563890.1_Splice_Site_p.V456_splice|CDYL2_ENST00000562812.1_Splice_Site_p.V456_splice|CDYL2_ENST00000566173.1_Splice_Site_p.V456_splice	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	455						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCCTCTAACACCTAGAGGGAA	0.562000													46	43					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179629430	179629430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179629430G>A	ENST00000589042.1	-	42	10036	c.9812C>T	c.(9811-9813)tCc>tTc	p.S3271F	TTN_ENST00000591111.1_Missense_Mutation_p.S3271F|TTN_ENST00000342175.6_Missense_Mutation_p.S3225F|TTN_ENST00000359218.5_Missense_Mutation_p.S3225F|TTN_ENST00000342992.6_Missense_Mutation_p.S3271F|TTN_ENST00000460472.2_Missense_Mutation_p.S3225F|TTN_ENST00000360870.5_Missense_Mutation_p.S3271F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3000	Ig-like 19.						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)			CTTGTACCAGGAAATTTTGGG	0.527000													82	27					0	0	0.003610	0	0
SETMAR	6419	broad.mit.edu	37	3	4355387	4355387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:4355387C>T	ENST00000358065.4	+	2	1029	c.962C>T	c.(961-963)cCc>cTc	p.P321L	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.P182L|SETMAR_ENST00000430981.1_Missense_Mutation_p.P321L	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	308	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GAGAAGGAACCCAGCATGTGT	0.502000								Chromatin Structure					35	35					0	0	0.004289	0	0
TMC5	79838	broad.mit.edu	37	16	19468038	19468038	+	Translation_Start_Site	SNP	G	G	A	rs144248280	by1000genomes	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:19468038G>A	ENST00000561503.1	+	0	233				TMC5_ENST00000396229.2_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000564959.1_Missense_Mutation_p.D4N|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.D4N			Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5							integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GATGCTGTCCGATGACCACGT	0.507000													32	32					0	0	0.004878	0	0
PCCA	5095	broad.mit.edu	37	13	100982855	100982855	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:100982855C>T	ENST00000376285.1	+	17	1508	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	PCCA_ENST00000376286.4_Silent_p.I464I|PCCA_ENST00000376279.3_Silent_p.I490I	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	490	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGGTGATAATCAACTCACGCT	0.313000													15	12					0	0	0.004007	0	0
SCN11A	11280	broad.mit.edu	37	3	38951578	38951578	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:38951578G>A	ENST00000302328.3	-	8	1278	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	SCN11A_ENST00000444237.2_Silent_p.S360S|SCN11A_ENST00000450244.1_Silent_p.S360S|SCN11A_ENST00000456224.3_Silent_p.S360S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	360					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTTCTCCCAGGAATCTTGGG	0.398000													12	3					0	0	0.001368	0	0
PCDH11X	27328	broad.mit.edu	37	X	91675526	91675526	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:91675526C>T	ENST00000298274.8	+	4	3233	c.3232_splice	c.e4-1	p.T1078_splice	PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000504220.1_Intron			Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1115					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ctttctttatccttcatccca	0.333000													36	7					0	0	0.002522	0	0
ROBO3	64221	broad.mit.edu	37	11	124748575	124748575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:124748575G>A	ENST00000397801.1	+	23	3608	c.3416G>A	c.(3415-3417)aGg>aAg	p.R1139K	ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.R1117K	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1139					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCATCCCGAAGGGAAACCCCC	0.632000													16	2					0	0	0.004007	0	0
NLRP8	126205	broad.mit.edu	37	19	56466477	56466477	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:56466477C>T	ENST00000291971.3	+	3	1124	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	NLRP8_ENST00000590542.1_Silent_p.L351L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	351	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTCCCTCTCTCGTAACCCTTC	0.463000													30	47					0	0	0.002445	0	0
C2CD3	26005	broad.mit.edu	37	11	73785332	73785332	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:73785332G>A	ENST00000334126.7	-	24	5143	c.4917C>T	c.(4915-4917)atC>atT	p.I1639I	C2CD3_ENST00000313663.7_Silent_p.I1639I			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1639	C2 2.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTTCTACTAGGATGCTGACTG	0.542000													15	11					0	0	0.000958	0	0
DPYD	1806	broad.mit.edu	37	1	98164976	98164976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:98164976G>A	ENST00000370192.3	-	6	711	c.611C>T	c.(610-612)tCc>tTc	p.S204F	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	204					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGCCAAAAAGGAAGCACAACT	0.393000													12	77					0	0	0.002450	0	0
MICU2	221154	broad.mit.edu	37	13	22113825	22113825	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:22113825T>A	ENST00000382374.4	-	3	426	c.361A>T	c.(361-363)Aaa>Taa	p.K121*		NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		ACTGAAGTTTTACCTACAACA	0.343000													22	8					0	0	0.003954	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916862	97916862	+	RNA	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:97916862C>T	ENST00000534948.1	+	0	1640							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTACTTTTCCCTTCACTTGTC	0.348000													23	21					0	0	0.002299	0	0
SCN10A	6336	broad.mit.edu	37	3	38768109	38768109	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:38768109G>A	ENST00000449082.2	-	16	3074	c.3075C>T	c.(3073-3075)atC>atT	p.I1025I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1025					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCCTTTGGGGATCACTTCCT	0.542000													22	4					0	0	0.003954	0	0
ELANE	1991	broad.mit.edu	37	19	855989	855989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:855989G>A	ENST00000590230.1	+	6	770	c.629G>A	c.(628-630)gGg>gAg	p.G210E	ELANE_ENST00000263621.1_Missense_Mutation_p.G210E			P08246	ELNE_HUMAN	elastase, neutrophil expressed	210	Peptidase S1.		G -> V (in GFI1).		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)	GTCTGCAACGGGCTAATCCAC	0.662000													38	51					0	0	0.002522	0	0
CCDC181	57821	broad.mit.edu	37	1	169388371	169388371	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:169388371C>T	ENST00000545005.1	-	5	1602	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Silent_p.E365E|CCDC181_ENST00000367805.3_Silent_p.E365E					coiled-coil domain containing 181																		TTTTTTCTTTCTCTTCTTCTA	0.323000													7	13					0	0	0.001984	0	0
USP29	57663	broad.mit.edu	37	19	57640306	57640306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:57640306C>T	ENST00000254181.4	+	4	717	c.263C>T	c.(262-264)tCc>tTc	p.S88F	USP29_ENST00000598197.1_Missense_Mutation_p.S88F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	88					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GACAAATTATCCTACAGAGAT	0.348000													15	20					0	0	0.003163	0	0
RERGL	79785	broad.mit.edu	37	12	18234317	18234317	+	Silent	SNP	T	T	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:18234317T>A	ENST00000229002.2	-	6	632	c.426A>T	c.(424-426)gcA>gcT	p.A142A	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.A141A|RERGL_ENST00000536890.1_3'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	142	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						GGTTTTCCAGTGCCAGCTTTT	0.453000													10	42					0	0	0.000673	0	0
ACADSB	36	broad.mit.edu	37	10	124797320	124797320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:124797320C>T	ENST00000358776.4	+	3	274	c.260C>T	c.(259-261)tCg>tTg	p.S87L	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Intron	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	87					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	p.S87L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GATGAAAATTCGAAAATGGAG	0.313000													28	37					0	0	0.002096	0	0
SHANK2	22941	broad.mit.edu	37	11	70331599	70331599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:70331599C>T	ENST00000338508.4	-	32	4801	c.4802G>A	c.(4801-4803)aGg>aAg	p.R1601K	SHANK2_ENST00000423696.2_Missense_Mutation_p.R1221K|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1004K|SHANK2_ENST00000449833.2_Missense_Mutation_p.R1005K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1221					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)			CTTGGAGGTCCTTGGCTGGAG	0.567000													24	47					0	0	0.001512	0	0
KRT18	3875	broad.mit.edu	37	12	53345288	53345288	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:53345288G>A	ENST00000550600.1	+	5	735	c.681G>A	c.(679-681)caG>caA	p.Q227Q	KRT18_ENST00000388835.3_Silent_p.Q227Q|KRT18_ENST00000388837.2_Silent_p.Q227Q			P05783	K1C18_HUMAN	keratin 18	227	Linker 12.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						TACAAGCCCAGATTGCCAGCT	0.547000													47	2					0	0	0.003610	0	0
NRIP3	56675	broad.mit.edu	37	11	9009825	9009825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:9009825G>A	ENST00000309166.3	-	2	292	c.179C>T	c.(178-180)cCt>cTt	p.P60L	NRIP3_ENST00000531090.1_Missense_Mutation_p.P60L	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	60					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AATATTATGAGGTTGCTTGAG	0.507000													23	10					0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	9069683	9069683	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9069683C>T	ENST00000397910.4	-	3	17966	c.17763G>A	c.(17761-17763)gtG>gtA	p.V5921V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5923	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						TGGTTTCTTCCACAGAGGGAG	0.498000													32	38					0	0	0.001786	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594218	136594218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:136594218C>T	ENST00000355849.5	+	6	1119	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	237	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GCCAGTGAGTCGGGGAAGAGG	0.602000													36	36					0	0	0.003755	0	0
EPS15	2060	broad.mit.edu	37	1	51934234	51934234	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:51934234A>C	ENST00000371733.3	-	5	316	c.220T>G	c.(220-222)Ttt>Gtt	p.F74V	EPS15_ENST00000371730.2_Missense_Mutation_p.F74V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	74	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						AAAGCAACAAAGAATTCCTAA	0.373000			T	MLL	ALL								12	32					0	0	0.001855	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681591	44681591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:44681591C>T	ENST00000381176.4	-	4	448	c.316G>A	c.(316-318)Gga>Aga	p.G106R		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	106						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACGAAAAATCCATAGATCCAC	0.527000													156	74					0	0	0.003610	0	0
FBXO24	26261	broad.mit.edu	37	7	100198319	100198319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:100198319G>A	ENST00000241071.6	+	10	1862	c.1540G>A	c.(1540-1542)Ggg>Agg	p.G514R	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.G552R|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Missense_Mutation_p.G502R	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	514						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGACCCCGGGGGGATGGCCCA	0.662000													60	20					0	0	0.003610	0	0
HECTD4	283450	broad.mit.edu	37	12	112650418	112650418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:112650418C>T	ENST00000550722.1	-	49	7459	c.7064G>A	c.(7063-7065)gGg>gAg	p.G2355E	HECTD4_ENST00000430131.2_Missense_Mutation_p.G2079E|HECTD4_ENST00000377560.5_Missense_Mutation_p.G2329E	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGGTGGAGTCCCCTCAGTTCT	0.507000													39	1					0	0	0.004289	0	0
RGS12	6002	broad.mit.edu	37	4	3319513	3319513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:3319513C>T	ENST00000336727.3	+	2	2520	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	RGS12_ENST00000344733.5_Missense_Mutation_p.P539L|RGS12_ENST00000543385.1_Missense_Mutation_p.P539L|RGS12_ENST00000382788.3_Missense_Mutation_p.P539L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	539						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCTGGCTCCCGGTCCACGTG	0.637000													13	16					0	0	0.001855	0	0
C10orf12	26148	broad.mit.edu	37	10	98743944	98743944	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:98743944C>G	ENST00000286067.2	+	1	2904	c.2797C>G	c.(2797-2799)Cct>Gct	p.P933A		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	933										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAGAAATTTCCTGGAGCTAC	0.473000													29	40					0	0	0.001271	0	0
PM20D1	148811	broad.mit.edu	37	1	205814473	205814473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:205814473C>T	ENST00000367136.4	-	3	513	c.469G>A	c.(469-471)Gac>Aac	p.D157N	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	157						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TTCTTGTCGTCCAGTGTGCCC	0.577000													21	16					0	0	0.001523	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630949	74630949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:74630949C>T	ENST00000358632.4	-	8	1618	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	CYP11A1_ENST00000419019.2_Missense_Mutation_p.R308Q|CYP11A1_ENST00000268053.6_Missense_Mutation_p.R466Q	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	466					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTCAGCGATCCGCCGTCCCAG	0.552000													32	35					0	0	0.003755	0	0
FHL3	2275	broad.mit.edu	37	1	38463120	38463120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:38463120C>T	ENST00000373016.3	-	6	968	c.800G>A	c.(799-801)gGa>gAa	p.G267E	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	267	LIM zinc-binding 4.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CACTTGGTCTCCATCCGGTAC	0.632000													12	55					0	0	0.000978	0	0
AGRN	375790	broad.mit.edu	37	1	957749	957749	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:957749C>T	ENST00000379370.2	+	2	420	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	124	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACCCCCATACCTGTGGCCAGC	0.587000													83	29					0	0	0.003610	0	0
C5orf42	65250	broad.mit.edu	37	5	37167295	37167295	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:37167295G>A	ENST00000274258.7	-	35	7481	c.3894C>T	c.(3892-3894)atC>atT	p.I1298I	C5orf42_ENST00000508244.1_Silent_p.I2418I|C5orf42_ENST00000425232.2_Silent_p.I2418I			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2418										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTTCAAGTGGGATAAGTTGTG	0.323000													15	21					0	0	0.003163	0	0
TPTE2	93492	broad.mit.edu	37	13	20024216	20024216	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:20024216C>T	ENST00000400230.2	-	13	1017	c.973_splice	c.e13+1	p.G325_splice	TPTE2_ENST00000390680.2_Splice_Site_p.G248_splice|TPTE2_ENST00000400103.2_Splice_Site_p.G214_splice|TPTE2_ENST00000255310.6_Splice_Site_p.G248_splice|TPTE2_ENST00000382978.1_Splice_Site_p.G285_splice|TPTE2_ENST00000382977.4_Splice_Site_p.G325_splice|TPTE2_ENST00000382975.4_Splice_Site_p.G285_splice|TPTE2_ENST00000457266.2_Splice_Site_p.G214_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	325	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATGTTATTACCTTTGCCTCCT	0.323000													6	33					0	0	0.002450	0	0
CALM2	805	broad.mit.edu	37	2	47388964	47388964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:47388964G>A	ENST00000272298.7	-	5	476	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	CALM2_ENST00000409563.1_Missense_Mutation_p.R154C|CALM2_ENST00000422269.1_Intron	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	107	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	ATCACATGGCGAAGTTCTGCA	0.363000													12	51					0	0	0.003163	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456270	84456270	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:84456270C>T	ENST00000416219.2	+	9	899	c.810C>T	c.(808-810)ttC>ttT	p.F270F	ATP2C2_ENST00000262429.4_Silent_p.F270F|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	270					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCTCTCAGTTCGGAGAAGTGT	0.502000													113	150					0	0	0.003610	0	0
EPHA3	2042	broad.mit.edu	37	3	89259572	89259572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:89259572C>T	ENST00000336596.2	+	3	941	c.716C>T	c.(715-717)cCt>cTt	p.P239L	EPHA3_ENST00000494014.1_Missense_Mutation_p.P239L|EPHA3_ENST00000452448.2_Missense_Mutation_p.P239L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	239	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAGGAAGATCCTCCAAGGATG	0.488000										TSP Lung(6;0.00050)			274	108					0	0	0.003610	0	0
ATG4C	84938	broad.mit.edu	37	1	63299788	63299788	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:63299788G>A	ENST00000317868.4	+	8	1219		c.e8+1		ATG4C_ENST00000371120.3_Splice_Site	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase						autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						GGATTTCAAGGTTAGTGATTT	0.308000													43	22					0	0	0.002222	0	0
TTN	7273	broad.mit.edu	37	2	179584052	179584052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179584052C>T	ENST00000589042.1	-	83	24289	c.24065G>A	c.(24064-24066)gGa>gAa	p.G8022E	TTN_ENST00000591111.1_Missense_Mutation_p.G7705E|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6778E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7705	Ig-like 62.						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)			AATCTCATTTCCATCCTGAAA	0.512000													74	32					0	0	0.003610	0	0
OR52J3	119679	broad.mit.edu	37	11	5068174	5068174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:5068174C>T	ENST00000380370.1	+	1	419	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTTGACATCCCAAGTGTTG	0.488000													6	32					0	0	0.001168	0	0
APOB	338	broad.mit.edu	37	2	21233061	21233061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:21233061G>A	ENST00000233242.1	-	26	6806	c.6679C>T	c.(6679-6681)Cat>Tat	p.H2227Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2227					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)	TGTAGATCATGGATTGTTTTT	0.269000													308	136					0	0	0.003610	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769061	140769061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:140769061C>T	ENST00000519479.1	+	1	1610	c.1610C>T	c.(1609-1611)tCg>tTg	p.S537L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_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)			GACCAGGGCTCGCCAGCGCTC	0.692000													28	3					0	0	0.005443	0	0
CMTR2	55783	broad.mit.edu	37	16	71319742	71319742	+	Missense_Mutation	SNP	C	C	T	rs147189785		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:71319742C>T	ENST00000338099.5	-	3	418	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	FTSJD1_ENST00000434935.2_Missense_Mutation_p.E28K			Q8IYT2	FTSJ1_HUMAN		28						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAAAGAGTTCAAAAATGTCA	0.403000													15	6					0	0	0.004990	0	0
PPFIA2	8499	broad.mit.edu	37	12	81851624	81851624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:81851624C>T	ENST00000550584.2	-	4	620	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	PPFIA2_ENST00000407050.4_Missense_Mutation_p.E35K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E109K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E35K|PPFIA2_ENST00000550359.2_5'UTR|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E91K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E91K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E109K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E109K|RP11-315E17.1_ENST00000550272.1_RNA	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	35										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCATTTAATTCTTTTGTCAGT	0.294000													9	0					0	0	0.000673	0	0
COX7B2	170712	broad.mit.edu	37	4	46737038	46737038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:46737038C>T	ENST00000396533.1	-	4	422	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	COX7B2_ENST00000355591.3_Missense_Mutation_p.A58T|COX7B2_ENST00000543208.1_Missense_Mutation_p.A57T|COX7B2_ENST00000302930.5_Missense_Mutation_p.A58T			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	58						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						ATCTGAGTGGCTGTAAACACC	0.423000													24	12					0	0	0.003330	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602610	96602610	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:96602610G>A	ENST00000371321.3	+	7	1060	c.978G>A	c.(976-978)gaG>gaA	p.E326E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	326					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCCAGGAAGAGATTGAACGTG	0.488000													22	34					0	0	0.005443	0	0
PCDH15	65217	broad.mit.edu	37	10	55719528	55719528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:55719528G>A	ENST00000373965.2	-	24	3501	c.3107C>T	c.(3106-3108)cCt>cTt	p.P1036L	PCDH15_ENST00000395445.1_Missense_Mutation_p.P1036L|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1034L|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1029L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1029L|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1029L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1007L|PCDH15_ENST00000395432.2_Missense_Mutation_p.P992L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P640L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1029L|PCDH15_ENST00000437009.1_Missense_Mutation_p.P958L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1029					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)				GATCTCACCAGGATGTAAGAC	0.413000										HNSCC(58;0.16)			11	8					0	0	0.001368	0	0
ZNF574	64763	broad.mit.edu	37	19	42584278	42584278	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:42584278A>G	ENST00000600245.1	+	2	2175	c.1520A>G	c.(1519-1521)aAg>aGg	p.K507R	ZNF574_ENST00000359044.4_Missense_Mutation_p.K507R|ZNF574_ENST00000222339.7_Missense_Mutation_p.K597R			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TTCAAGAAGAAGTCTCACGTG	0.587000													123	123					0	0	0.003610	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21487557	21487557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:21487557C>T	ENST00000307378.6	-	3	745	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E9K|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000390670.3_5'UTR|SLCO1A2_ENST00000473830.1_5'UTR	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	9					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CTATGGGTTTCAATTCTTTTC	0.348000													22	43					0	0	0.003330	0	0
KLHL14	57565	broad.mit.edu	37	18	30260234	30260234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:30260234C>T	ENST00000359358.4	-	7	1924	c.1486G>A	c.(1486-1488)Gat>Aat	p.D496N		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	496						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCCCAGACATCCATTACTGGG	0.398000													14	50					0	0	0.004990	0	0
NBPF1	55672	broad.mit.edu	37	1	16902912	16902912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:16902912C>T	ENST00000430580.2	-	19	2856	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	NBPF1_ENST00000432949.1_Missense_Mutation_p.E115K|NBPF1_ENST00000287968.8_Missense_Mutation_p.E22K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	657						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTCTCCCTTCCCGTAACTTC	0.517000													52	501					0	0	0.003610	0	0
PRR12	57479	broad.mit.edu	37	19	50099086	50099086	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:50099086C>T	ENST00000418929.2	+	4	1506	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	269	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGAGCTACTCCCCGGACCAGC	0.711000													8	10					0	0	0.003080	0	0
TXLNA	200081	broad.mit.edu	37	1	32657917	32657917	+	Silent	SNP	C	C	T	rs140788218		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:32657917C>T	ENST00000373609.1	+	6	1250	c.969C>T	c.(967-969)atC>atT	p.I323I	TXLNA_ENST00000373610.3_Silent_p.I323I			P40222	TXLNA_HUMAN	taxilin alpha	323					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCAGCATATCGACAAAGTCT	0.587000													20	73					0	0	0.002299	0	0
MUC17	140453	broad.mit.edu	37	7	100699543	100699543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:100699543G>A	ENST00000306151.4	+	12	13496	c.13432G>A	c.(13432-13434)Gaa>Aaa	p.E4478K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4478						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATAGACCCTGAAACAAAGGT	0.488000													23	41					0	0	0.002780	0	0
HRC	3270	broad.mit.edu	37	19	49657222	49657222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:49657222C>T	ENST00000252825.4	-	1	1459	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	HRC_ENST00000595625.1_Missense_Mutation_p.E425K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	425					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCATCTTCCTCCCTGGGGACT	0.547000													55	52					0	0	0.003610	0	0
OR8D4	338662	broad.mit.edu	37	11	123777259	123777259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:123777259G>A	ENST00000321355.2	+	1	151	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TACTGTGGTGGGAAACCTCAG	0.413000													37	19					0	0	0.002222	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741396	140741396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:140741396C>T	ENST00000522605.1	+	1	1694	c.1694C>T	c.(1693-1695)cCc>cTc	p.P565L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGTACCCCGCGCTGGGG	0.692000													22	6					0	0	0.004656	0	0
SMG1	23049	broad.mit.edu	37	16	18844299	18844299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:18844299C>T	ENST00000446231.2	-	51	9167	c.8755G>A	c.(8755-8757)Gaa>Aaa	p.E2919K	SMG1_ENST00000389467.3_Missense_Mutation_p.E2919K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2919					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTTTCTTCTTCCAGTCCCATA	0.493000													85	130					0	0	0.003610	0	0
NCAM1	4684	broad.mit.edu	37	11	113103514	113103514	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:113103514G>A	ENST00000316851.7	+	11	1470	c.1470G>A	c.(1468-1470)ttG>ttA	p.L490L	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.L499L|NCAM1_ENST00000533760.1_Silent_p.L372L	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	500	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGAGTCCTTGGAATTCATCC	0.502000													8	31					0	0	0.000443	0	0
TTC39B	158219	broad.mit.edu	37	9	15191202	15191202	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:15191202A>C	ENST00000355694.2	-	10	1018	c.784T>G	c.(784-786)Ttt>Gtt	p.F262V	TTC39B_ENST00000297615.5_Missense_Mutation_p.F259V|TTC39B_ENST00000507285.1_Missense_Mutation_p.F163V|TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000512701.1_Missense_Mutation_p.F328V|TTC39B_ENST00000507993.1_Missense_Mutation_p.F163V|TTC39B_ENST00000380850.4_Missense_Mutation_p.F328V	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	262							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTCCCAGAAAATCCAATAAAT	0.323000													10	2					0	0	0.000978	0	0
AK5	26289	broad.mit.edu	37	1	77984388	77984388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:77984388G>A	ENST00000344720.5	+	11	2235	c.1209G>A	c.(1207-1209)atG>atA	p.M403I	AK5_ENST00000354567.2_Missense_Mutation_p.M429I	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	429					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAGACATTATGGAACGTGGAG	0.468000													13	51					0	0	0.002450	0	0
KCNU1	157855	broad.mit.edu	37	8	36780057	36780057	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:36780057G>A	ENST00000399881.3	+	24	2683	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	882						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GACTGGAAGGGTCCCTCCAAG	0.453000													38	39					0	0	0.005524	0	0
CDH6	1004	broad.mit.edu	37	5	31297437	31297437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:31297437C>T	ENST00000265071.2	+	4	830	c.565C>T	c.(565-567)Cca>Tca	p.P189S	CDH6_ENST00000514738.1_Missense_Mutation_p.P134S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	189	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCAGATGATCCAACATATGG	0.378000													26	46					0	0	0.002096	0	0
HKR1	284459	broad.mit.edu	37	19	37853243	37853243	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:37853243C>T	ENST00000324411.4	+	6	815	c.546C>T	c.(544-546)ctC>ctT	p.L182L	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Silent_p.L121L|HKR1_ENST00000392153.3_Silent_p.L163L|HKR1_ENST00000589392.1_Silent_p.L164L|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	182					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTCCAGACTCCTGTTTGGGA	0.478000													16	13					0	0	0.004007	0	0
MUC6	4588	broad.mit.edu	37	11	1016837	1016837	+	Silent	SNP	G	G	A	rs71472140		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:1016837G>A	ENST00000421673.2	-	31	6014	c.5964C>T	c.(5962-5964)tcC>tcT	p.S1988S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1988	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTCTGGAAGGATGTTGCAG	0.572000													17	1621					0	0	0.004007	0	0
SCPEP1	59342	broad.mit.edu	37	17	55079448	55079448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:55079448C>T	ENST00000262288.3	+	12	1257	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	401					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AAGTGGAAGGCCCTGTACAGT	0.483000													47	7					0	0	0.003610	0	0
C12orf10	60314	broad.mit.edu	37	12	53696906	53696906	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:53696906G>T	ENST00000267103.5	+	3	470	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W	C12orf10_ENST00000549488.1_Intron|C12orf10_ENST00000548632.1_Missense_Mutation_p.G116W	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	140								p.G140W(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						TCTGCACTTCGGGCACAAGCT	0.597000													5	73					0.00116845	0.00213518	0.001168	1	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:127912080G>A	ENST00000451402.1	-	8	1121	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_ENST00000415905.1_Missense_Mutation_p.R242C|PPP6C_ENST00000373546.3_Missense_Mutation_p.R117C|PPP6C_ENST00000373547.4_Missense_Mutation_p.R264C	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000													7	0					0	0	0.004482	0	0
MAST4	375449	broad.mit.edu	37	5	66459023	66459023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:66459023C>T	ENST00000404260.3	+	29	4333	c.4025C>T	c.(4024-4026)tCc>tTc	p.S1342F	MAST4_ENST00000261569.7_Missense_Mutation_p.S1145F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1160F|MAST4_ENST00000403625.2_Missense_Mutation_p.S1339F|MAST4_ENST00000403666.1_Missense_Mutation_p.S1150F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1342	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCCCCAATTCCCCAGCAGGG	0.602000													62	16					0	0	0.003610	0	0
KCNV1	27012	broad.mit.edu	37	8	110984919	110984919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:110984919C>T	ENST00000524391.1	-	3	1591	c.559G>A	c.(559-561)Gga>Aga	p.G187R	KCNV1_ENST00000297404.1_Missense_Mutation_p.G187R			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	187						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGACAAGGTCCTTGGGAGAAG	0.468000													31	34					0	0	0.002096	0	0
COL9A1	1297	broad.mit.edu	37	6	70978560	70978560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:70978560G>A	ENST00000357250.6	-	17	1392	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	COL9A1_ENST00000320755.7_Missense_Mutation_p.P169S|COL9A1_ENST00000370499.4_Missense_Mutation_p.P169S|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	412	Nonhelical region (NC3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CAGGCATTGGGACACTGCCAG	0.453000													28	4					0	0	0.001512	0	0
SAC3D1	29901	broad.mit.edu	37	11	64812189	64812189	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:64812189C>A	ENST00000398846.1	+	2	1456	c.1067C>A	c.(1066-1068)tCc>tAc	p.S356Y	SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000531072.1_Missense_Mutation_p.S356Y	NM_013299.3	NP_037431.3			SAC3 domain containing 1											endometrium(2)|lung(1)	3						AGACCTGGGTCCCCAGCCTGA	0.562000													28	15					4.22769e-11	7.85614e-11	0.001061	1	0
KCNAB1	7881	broad.mit.edu	37	3	155861109	155861109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:155861109C>T	ENST00000471742.1	+	1	359	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	0						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCTGTGAGGCCCAGTGGAGC	0.517000													29	19					0	0	0.001271	0	0
PAPD7	11044	broad.mit.edu	37	5	6746461	6746461	+	Silent	SNP	C	C	T	rs28381391	byFrequency	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:6746461C>T	ENST00000230859.6	+	7	759	c.630C>T	c.(628-630)atC>atT	p.I210I		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	210	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTGCCTATATCGCCAAAGAGG	0.458000													57	58					0	0	0.003610	0	0
MYH2	4620	broad.mit.edu	37	17	10428832	10428832	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:10428832C>T	ENST00000245503.5	-	32	4857	c.4473G>A	c.(4471-4473)aaG>aaA	p.K1491K	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.K1491K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1491					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						CATAGGCATTCTTTATCTTGA	0.443000													36	5					0	0	0.001485	0	0
C1orf173	127254	broad.mit.edu	37	1	75078426	75078426	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:75078426C>T	ENST00000326665.5	-	9	1286	c.1068G>A	c.(1066-1068)ggG>ggA	p.G356G	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.G159G	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	356										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCACCTGCATCCCATTCAGGA	0.428000													35	11					0	0	0.004878	0	0
ZNF561	93134	broad.mit.edu	37	19	9721792	9721792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9721792G>A	ENST00000302851.3	-	6	908	c.545C>T	c.(544-546)cCa>cTa	p.P182L	ZNF561_ENST00000424629.1_Missense_Mutation_p.P113L|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.P46L	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						AGCAAGACCTGGAGTTAGAGT	0.388000													26	24					0	0	0.003330	0	0
KATNAL1	84056	broad.mit.edu	37	13	30815100	30815100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:30815100G>A	ENST00000380615.3	-	5	783	c.616C>T	c.(616-618)Cat>Tat	p.H206Y	KATNAL1_ENST00000380617.3_Missense_Mutation_p.H206Y	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	206						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.H206N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TCTAACCAATGAATGCTAGGA	0.363000													23	16					0	0	0.002299	0	0
ACR	49	broad.mit.edu	37	22	51182578	51182578	+	Missense_Mutation	SNP	G	G	A	rs147392791		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:51182578G>A	ENST00000216139.5	+	4	695	c.655G>A	c.(655-657)Gtt>Att	p.V219I	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	219	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CAATGGGCGCGTTCAGCCAAC	0.572000													58	180					0	0	0.003610	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269283	150269283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:150269283G>A	ENST00000255945.2	+	3	300	c.125G>A	c.(124-126)gGa>gAa	p.G42E	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.G56E	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	42							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGGAGCAGGAAAAAGTGCA	0.463000													23	65					0	0	0.002299	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89197021	89197021	+	RNA	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:89197021G>A	ENST00000390244.2	+	0	129																											GGGCAGAAACGACACTCACGC	0.398000													15	14					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179431955	179431955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179431955C>T	ENST00000589042.1	-	326	79128	c.78904G>A	c.(78904-78906)Gaa>Aaa	p.E26302K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24661K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17429K|TTN_ENST00000359218.5_Missense_Mutation_p.E17362K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23734K|TTN_ENST00000460472.2_Missense_Mutation_p.E17237K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24661	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)			GAGCATTTTTCAGAAGTGACT	0.443000													33	145					0	0	0.002836	0	0
DNAH3	55567	broad.mit.edu	37	16	20996728	20996728	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:20996728G>A	ENST00000261383.3	-	48	7335	c.7336C>T	c.(7336-7338)Ctg>Ttg	p.L2446L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2446	AAA 4 (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)		AATGTGGACAGTTTGGCGGCA	0.527000													12	23					0	0	0.001855	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120072	103120072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:103120072C>T	ENST00000295269.4	+	3	1343	c.886C>T	c.(886-888)Cag>Tag	p.Q296*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	296					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						ACGTTTCACTCAGAATATCTC	0.453000													33	20					0	0	0.002096	0	0
POTEC	388468	broad.mit.edu	37	18	14543037	14543037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:14543037C>T	ENST00000358970.5	-	1	108	c.109G>A	c.(109-111)Ggg>Agg	p.G37R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	37										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCCGCTCCCCTTGCAGCAG	0.557000													43	69					0	0	0.003610	0	0
RALGAPB	57148	broad.mit.edu	37	20	37191301	37191301	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:37191301T>A	ENST00000262879.6	+	24	3942	c.3658T>A	c.(3658-3660)Tct>Act	p.S1220T	RALGAPB_ENST00000397038.1_Missense_Mutation_p.S998T|RALGAPB_ENST00000397042.3_Missense_Mutation_p.S1216T|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S1220T			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1220	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TACCAGTTGGTCTATTAATTG	0.398000													27	30					0	0	0.001512	0	0
MYL2	4633	broad.mit.edu	37	12	111348978	111348978	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:111348978A>G	ENST00000228841.8	-	7	451	c.402_splice	c.e7-1	p.V135_splice	MYL2_ENST00000548438.1_Splice_Site_p.V121_splice	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	135	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CATCTGGTCAACCTGCAATGA	0.612000													62	7					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179429641	179429641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179429641G>A	ENST00000589042.1	-	326	81442	c.81218C>T	c.(81217-81219)cCt>cTt	p.P27073L	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P25432L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18200L|TTN_ENST00000359218.5_Missense_Mutation_p.P18133L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24505L|TTN_ENST00000460472.2_Missense_Mutation_p.P18008L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25432	Fibronectin type-III 97.						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)			AGGTGGTCCAGGTTCTTTAAA	0.423000													25	45					0	0	0.003330	0	0
PDS5B	23047	broad.mit.edu	37	13	33261421	33261421	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:33261421C>T	ENST00000315596.10	+	12	1540	c.1355_splice	c.e12+1	p.R452_splice		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	452					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TATTGATGATCGGTAAGTTAA	0.299000													19	15					0	0	0.006122	0	0
PBRM1	55193	broad.mit.edu	37	3	52610695	52610695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:52610695G>A	ENST00000356770.4	-	21	3459	c.3457C>T	c.(3457-3459)Cga>Tga	p.R1153*	PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1160*|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1185*			Q86U86	PB1_HUMAN	polybromo 1	1185					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.R1185*(3)|p.R1153*(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)		GCTCCATCTCGAACCCATACT	0.338000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								26	2					0	0	0.005443	0	0
HMCN1	83872	broad.mit.edu	37	1	185970777	185970777	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:185970777C>A	ENST00000271588.4	+	28	4481	c.4252C>A	c.(4252-4254)Ctc>Atc	p.L1418I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L1418I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1418	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GATACTGAAGCTCTTCAGAGC	0.403000													11	26					0.00136819	0.002497	0.001368	1	0
SNX1	6642	broad.mit.edu	37	15	64410335	64410335	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:64410335C>T	ENST00000353874.4	+	3	327	c.291C>T	c.(289-291)tcC>tcT	p.S97S	SNX1_ENST00000261889.5_Silent_p.S97S|SNX1_ENST00000561026.1_Intron|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000559844.1_Silent_p.S97S			Q13596	SNX1_HUMAN	sorting nexin 1	97					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TGGAGCTATCCTTGGACAGCA	0.403000													43	43					0	0	0.002522	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	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	84					0	0	0.001512	0	0
P2RY13	53829	broad.mit.edu	37	3	151046628	151046628	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:151046628G>A	ENST00000325602.5	-	2	235	c.216C>T	c.(214-216)atC>atT	p.I72I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	72						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AGGAGCTGGGGATGTGAACAA	0.483000													33	33					0	0	0.002096	0	0
SACS	26278	broad.mit.edu	37	13	23912862	23912862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:23912862G>A	ENST00000382298.3	-	10	5741	c.5153C>T	c.(5152-5154)tCc>tTc	p.S1718F	SACS_ENST00000382292.3_Missense_Mutation_p.S1718F|SACS_ENST00000402364.1_Missense_Mutation_p.S968F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1718					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGAAGAGCAGGATTTTTTTTT	0.358000													16	8					0	0	0.004990	0	0
CCKBR	887	broad.mit.edu	37	11	6292273	6292273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:6292273G>A	ENST00000525462.1	+	4	1054	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.E282K|CCKBR_ENST00000532715.1_Missense_Mutation_p.E198K			P32239	GASR_HUMAN	cholecystokinin B receptor	282					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTGCCGGCCTGAGACTGGCGC	0.672000													12	58					0	0	0.002450	0	0
CDNF	441549	broad.mit.edu	37	10	14862124	14862124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:14862124C>T	ENST00000378442.1	-	6	616	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	CDNF_ENST00000378441.2_5'UTR			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor	140						extracellular region	growth factor activity			breast(2)|large_intestine(2)|lung(1)	5						TCTCATCTTCCGCAGGTCAAC	0.428000													5	66					0	0	0.000602	0	0
MYH15	22989	broad.mit.edu	37	3	108219027	108219027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:108219027C>T	ENST00000273353.3	-	5	550	c.494G>A	c.(493-495)cGa>cAa	p.R165Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	165	Myosin head-like.					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						AGCCTCTGATCGCCTCTTCCC	0.463000													20	27					0	0	0.000958	0	0
PCLO	27445	broad.mit.edu	37	7	82582544	82582544	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:82582544G>A	ENST00000423517.2	-	5	8062	c.7725C>T	c.(7723-7725)tcC>tcT	p.S2575S	PCLO_ENST00000333891.8_Silent_p.S2575S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2506					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						TTTCTGTGAGGGATTTGGAAA	0.433000													157	87					0	0	0.003610	0	0
CNTLN	54875	broad.mit.edu	37	9	17309068	17309068	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:17309068T>G	ENST00000380647.3	+	8	1243	c.1159T>G	c.(1159-1161)Tta>Gta	p.L387V	CNTLN_ENST00000425824.1_Missense_Mutation_p.L387V|CNTLN_ENST00000262360.5_Missense_Mutation_p.L387V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	387						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTACAATGAGTTACATATTTG	0.303000													9	2					0	0	0.000673	0	0
TNIK	23043	broad.mit.edu	37	3	170786636	170786636	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:170786636C>T	ENST00000436636.2	-	30	4044		c.e30+1		TNIK_ENST00000475336.1_Splice_Site|TNIK_ENST00000488470.1_Splice_Site|TNIK_ENST00000470834.1_Splice_Site|TNIK_ENST00000369326.5_Splice_Site|TNIK_ENST00000460047.1_Splice_Site|TNIK_ENST00000284483.8_Splice_Site|TNIK_ENST00000538048.1_Splice_Site|TNIK_ENST00000341852.6_Splice_Site|TNIK_ENST00000357327.5_Splice_Site	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase						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			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)			TGAGTACTTACATGAGATGGT	0.358000													13	13					0	0	0.001368	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16876447	16876447	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:16876447G>A	ENST00000355661.3	-	6	521	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	PLEKHA7_ENST00000448080.2_Silent_p.L171L|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.L171L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	171	PH.				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						TGCTTGTGCAGCCAGCCCCTC	0.552000													26	19					0	0	0.001061	0	0
TENM4	26011	broad.mit.edu	37	11	78380018	78380018	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:78380018T>A	ENST00000278550.7	-	32	7834	c.7372A>T	c.(7372-7374)Atc>Ttc	p.I2458F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GAGTTGCTGATGGGGTTGTTG	0.502000													38	22					0	0	0.002852	0	0
GPR113	165082	broad.mit.edu	37	2	26536365	26536365	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:26536365G>A	ENST00000333478.6	-	6	1338	c.756C>T	c.(754-756)gcC>gcT	p.A252A	GPR113_ENST00000541401.1_Silent_p.A54A|GPR113_ENST00000421160.2_Silent_p.A382A|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Silent_p.A451A	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	451					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGACATGGGGCCTGTGCCA	0.632000													7	6					0	0	0.001984	0	0
ACOX1	51	broad.mit.edu	37	17	73945809	73945809	+	Missense_Mutation	SNP	G	G	A	rs143601596	byFrequency	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:73945809G>A	ENST00000537812.1	-	10	2002	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	ACOX1_ENST00000301608.4_Missense_Mutation_p.R490C|ACOX1_ENST00000293217.5_Missense_Mutation_p.R490C	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	490					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CTGGCTGCACGGAGTTTATAT	0.562000													29	5					0	0	0.002445	0	0
FLCN	201163	broad.mit.edu	37	17	17118316	17118316	+	Silent	SNP	G	G	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:17118316G>C	ENST00000285071.4	-	13	1975	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	507					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACTCCTCCTTGAGGCAGACGA	0.567000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				13	31					0	0	0.006122	0	0
APOL3	80833	broad.mit.edu	37	22	36556761	36556761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:36556761C>T	ENST00000349314.2	-	1	216	c.179G>A	c.(178-180)aGa>aAa	p.R60K	APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000397293.2_5'UTR|APOL3_ENST00000424878.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	60					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCCAGCTGTTCTGAGCTGTGT	0.507000													40	39					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13727742	13727742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:13727742C>T	ENST00000265104.4	-	70	12011	c.11907G>A	c.(11905-11907)tgG>tgA	p.W3969*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3969					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)					ACCAAATTTTCCACATTTTCT	0.383000									Kartagener syndrome				21	21					0	0	0.002780	0	0
OR52E4	390081	broad.mit.edu	37	11	5906189	5906189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:5906189C>T	ENST00000316987.2	+	1	689	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGCTTATCCTTAGAGCTGT	0.428000													34	58					0	0	0.004878	0	0
ZNF629	23361	broad.mit.edu	37	16	30794450	30794450	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:30794450C>A	ENST00000262525.4	-	3	1406	c.1199G>T	c.(1198-1200)cGg>cTg	p.R400L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CTTGTAGGGCCGCTCGCCCGT	0.667000													12	6					1.61879e-10	3.00422e-10	0.001368	1	0
HAL	3034	broad.mit.edu	37	12	96389530	96389530	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:96389530G>A	ENST00000261208.3	-	2	527	c.159C>T	c.(157-159)ttC>ttT	p.F53F	HAL_ENST00000538703.1_Silent_p.F53F|HAL_ENST00000541929.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	53					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGCGCACAAGGAAGTGCGCGT	0.637000													49	5					0	0	0.003610	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84685243	84685243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:84685243C>T	ENST00000286744.5	+	25	4489	c.4265C>T	c.(4264-4266)cCg>cTg	p.P1422L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1422L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1422						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAGAACCCCCGCCTCAAGGT	0.428000													11	7					0	0	0.001368	0	0
FLG	2312	broad.mit.edu	37	1	152286482	152286482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:152286482C>T	ENST00000368799.1	-	3	915	c.880G>A	c.(880-882)Gga>Aga	p.G294R	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	294	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			ACTCTGGATCCCCTACGCTTT	0.507000									Ichthyosis				49	177					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9083474	9083474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9083474C>T	ENST00000397910.4	-	1	8544	c.8341G>A	c.(8341-8343)Gag>Aag	p.E2781K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2781	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E2781Q(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						GATGCCCTCTCAAGCCCAGCT	0.493000													22	22					0	0	0.003330	0	0
BAG3	9531	broad.mit.edu	37	10	121429450	121429450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:121429450C>T	ENST00000369085.3	+	2	574	c.268C>T	c.(268-270)Cga>Tga	p.R90*		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	90					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CCCCCAGCTCCGACCAGGCTA	0.602000													24	41					0	0	0.003330	0	0
RSAD1	55316	broad.mit.edu	37	17	48559767	48559767	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:48559767C>G	ENST00000258955.2	+	4	875	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	264					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGGGCTGTCCTTCGGGAGGC	0.652000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	6					0	0	0.001271	0	0
ADAM2	2515	broad.mit.edu	37	8	39613372	39613372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:39613372G>A	ENST00000265708.4	-	16	1775	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.P539S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	558	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.P558S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GTGGCTCTTGGAATTTGTAAT	0.303000													21	45					0	0	0.003330	0	0
DPPA4	55211	broad.mit.edu	37	3	109050810	109050810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:109050810G>A	ENST00000335658.6	-	3	301	c.247C>T	c.(247-249)Cca>Tca	p.P83S	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	83						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GAAGGTAATGGAGGGATTGGT	0.488000													40	53					0	0	0.001706	0	0
CES3	23491	broad.mit.edu	37	16	66997463	66997463	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:66997463C>T	ENST00000303334.4	+	3	428	c.357C>T	c.(355-357)tcC>tcT	p.S119S	CES3_ENST00000394037.1_Silent_p.S119S	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	119						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGATCTTCTCCGTTTCAGAGG	0.602000													26	15					0	0	0.004656	0	0
TNXB	7148	broad.mit.edu	37	6	32012861	32012861	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:32012861T>A	ENST00000375244.3	-	32	11050	c.10849A>T	c.(10849-10851)Agc>Tgc	p.S3617C	TNXB_ENST00000451343.1_Missense_Mutation_p.S46C|TNXB_ENST00000375247.2_Missense_Mutation_p.S3615C			P22105	TENX_HUMAN	tenascin XB	3662	Fibronectin type-III 28.				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						TAGGGGGTGCTGGGCTCCAGG	0.642000													8	398					0	0	0.004482	0	0
KCND3	3752	broad.mit.edu	37	1	112525204	112525204	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:112525204G>C	ENST00000369697.1	-	1	214	c.145C>G	c.(145-147)Cgg>Ggg	p.R49G	KCND3_ENST00000302127.4_Missense_Mutation_p.R49G|KCND3_ENST00000315987.2_Missense_Mutation_p.R49G			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	49						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGAACCTCCGCCCACTCACG	0.637000													20	7					0	0	0.001216	0	0
CHST10	9486	broad.mit.edu	37	2	101009730	101009730	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:101009730T>C	ENST00000264249.3	-	7	1433	c.1048A>G	c.(1048-1050)Aaa>Gaa	p.K350E	CHST10_ENST00000542617.1_Missense_Mutation_p.K398E|CHST10_ENST00000409701.1_Missense_Mutation_p.K350E	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	350					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AAGTCTGGTTTCTGGTACCCA	0.458000													24	54					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179658259	179658259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179658259C>T	ENST00000589042.1	-	9	1632	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	TTN_ENST00000591111.1_Missense_Mutation_p.E470K|TTN_ENST00000342175.6_Missense_Mutation_p.E470K|TTN_ENST00000359218.5_Missense_Mutation_p.E470K|TTN_ENST00000342992.6_Missense_Mutation_p.E470K|TTN_ENST00000460472.2_Missense_Mutation_p.E470K|TTN_ENST00000360870.5_Missense_Mutation_p.E470K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	470							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)			TTCTCCGCTTCCTTTCTTACC	0.398000													12	44					0	0	0.001855	0	0
SCO1	6341	broad.mit.edu	37	17	10596221	10596221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:10596221G>A	ENST00000255390.5	-	3	482	c.422C>T	c.(421-423)tCc>tTc	p.S141F	SCO1_ENST00000577427.1_Missense_Mutation_p.S141F	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	141					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						AGTTGTGAGGGAAAACGGTCC	0.443000													27	3					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179641389	179641389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179641389C>T	ENST00000589042.1	-	28	5426	c.5202G>A	c.(5200-5202)atG>atA	p.M1734I	TTN_ENST00000591111.1_Missense_Mutation_p.M1734I|TTN_ENST00000342175.6_Missense_Mutation_p.M1688I|TTN_ENST00000359218.5_Missense_Mutation_p.M1688I|TTN_ENST00000342992.6_Missense_Mutation_p.M1734I|TTN_ENST00000460472.2_Missense_Mutation_p.M1688I|TTN_ENST00000360870.5_Missense_Mutation_p.M1734I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1486	Ig-like 8.						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)			ACTCCACCACCATCGTTGGGT	0.473000													11	32					0	0	0.000978	0	0
ZP1	22917	broad.mit.edu	37	11	60637865	60637865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:60637865G>A	ENST00000278853.5	+	4	743	c.743G>A	c.(742-744)aGa>aAa	p.R248K		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	248	P-type.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGCATCGTGAGAAGAACTTCA	0.572000													16	17					0	0	0.004990	0	0
SLC4A5	57835	broad.mit.edu	37	2	74491355	74491355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:74491355G>A	ENST00000394019.2	-	10	1031	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	SLC4A5_ENST00000359484.4_Missense_Mutation_p.L148F|SLC4A5_ENST00000358683.4_Missense_Mutation_p.L148F|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L212F|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.L212F|SLC4A5_ENST00000423644.1_Missense_Mutation_p.L212F|SLC4A5_ENST00000377632.1_Missense_Mutation_p.L212F|SLC4A5_ENST00000377634.4_Missense_Mutation_p.L212F|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	212						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTCCTCAGGAGGACGTAACTG	0.552000													6	30					0	0	0.001984	0	0
IRX6	79190	broad.mit.edu	37	16	55362701	55362701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:55362701G>A	ENST00000290552.7	+	5	2143	c.811G>A	c.(811-813)Gac>Aac	p.D271N	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	271						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						ggaagctgaagacgaggaggT	0.637000													23	13					0	0	0.002299	0	0
GGT7	2686	broad.mit.edu	37	20	33440319	33440319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:33440319G>A	ENST00000336431.5	-	11	1386	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	448					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						ATATGGCCCCGGAGGTAGGCG	0.582000													30	47					0	0	0.003271	0	0
OR2T6	254879	broad.mit.edu	37	1	248550993	248550993	+	Silent	SNP	C	C	T	rs61736237	byFrequency	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:248550993C>T	ENST00000355728.2	+	1	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			GATTCTTTTTCGGTGTCATTT	0.438000													26	23					0	0	0.001061	0	0
SIAH3	283514	broad.mit.edu	37	13	46357938	46357938	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:46357938G>A	ENST00000400405.2	-	2	496	c.390C>T	c.(388-390)atC>atT	p.I130I		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	130					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CAACCCTATGGATCTGCCGCA	0.642000													39	35					0	0	0.001951	0	0
HYDIN	54768	broad.mit.edu	37	16	70884483	70884483	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:70884483C>T	ENST00000393567.2	-	74	12669	c.12519G>A	c.(12517-12519)aaG>aaA	p.K4173K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4173										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)				GGTGGACTTTCTTTTCCACAT	0.443000													17	15					0	0	0.002780	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305490	136305490	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:136305490C>T	ENST00000371929.3	+	16	2256	c.1812C>T	c.(1810-1812)gtC>gtT	p.V604V	ADAMTS13_ENST00000355699.2_Silent_p.V604V|ADAMTS13_ENST00000356589.2_Silent_p.V573V|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_Silent_p.V276V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	604	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCGCTATGTCGTGGCTGGGA	0.622000													23	6					0	0	0.003954	0	0
FLT3	2322	broad.mit.edu	37	13	28589742	28589742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:28589742C>T	ENST00000380982.4	-	21	2728	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	FLT3_ENST00000241453.7_Missense_Mutation_p.E880K|FLT3_ENST00000537084.1_Missense_Mutation_p.E839K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	880	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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)	GAGAAGATTTCCCACAGTAAT	0.547000			"""Mis, O"""		"""AML, ALL"""								22	23					0	0	0.001523	0	0
MSR1	4481	broad.mit.edu	37	8	16026061	16026061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:16026061G>A	ENST00000350896.3	-	4	733	c.536C>T	c.(535-537)tCc>tTc	p.S179F	MSR1_ENST00000355282.2_Missense_Mutation_p.S179F|MSR1_ENST00000445506.2_Missense_Mutation_p.S197F|MSR1_ENST00000262101.5_Missense_Mutation_p.S179F|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.S179F	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	179					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ACTTATTAAGGACTTGGAGAT	0.368000													24	36					0	0	0.004656	0	0
RGS5	8490	broad.mit.edu	37	1	163172599	163172599	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:163172599G>A	ENST00000313961.5	-	1	304	c.27C>T	c.(25-27)ccC>ccT	p.P9P	RGS5_ENST00000530507.1_Silent_p.P9P|RGS5_ENST00000534288.1_Intron|RGS5_ENST00000527988.1_5'UTR|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000367903.3_Intron	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	9					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.P9P(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GGCATGAGTGGGGCAAAGCTG	0.448000													11	23					0	0	0.000978	0	0
PTRH1	138428	broad.mit.edu	37	9	130477870	130477870	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:130477870T>G	ENST00000419060.1	-	2	1505	c.49A>C	c.(49-51)Atg>Ctg	p.M17L	PTRH1_ENST00000543175.1_Missense_Mutation_p.M17L|C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000423807.1_Missense_Mutation_p.M17L|C9orf117_ENST00000373293.5_3'UTR			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	17					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						CATCGGCTCATGGCTCTACTC	0.682000													6	26					0	0	0.001168	0	0
GNAZ	2781	broad.mit.edu	37	22	23438121	23438121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:23438121C>T	ENST00000248996.4	+	2	905	c.239C>T	c.(238-240)tCg>tTg	p.S80L	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	80						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.S80L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCCATCGACTCGCTGACCCGC	0.617000													41	271					0	0	0.003610	0	0
TENM3	55714	broad.mit.edu	37	4	183601472	183601472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:183601472C>T	ENST00000511685.1	+	9	1732	c.1609C>T	c.(1609-1611)Cca>Tca	p.P537S	TENM3_ENST00000406950.2_Missense_Mutation_p.P537S					teneurin transmembrane protein 3																		CCATTGTTTTCCAGGATTTCT	0.408000													15	3					0	0	0.004007	0	0
MED12L	116931	broad.mit.edu	37	3	151073743	151073743	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:151073743C>T	ENST00000474524.1	+	17	2510	c.2472C>T	c.(2470-2472)ctC>ctT	p.L824L	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.L684L|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	824					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTATCATCTCCCTTTGGCTC	0.393000													31	57					0	0	0.002836	0	0
COL11A2	1302	broad.mit.edu	37	6	33141489	33141489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:33141489G>A	ENST00000341947.2	-	35	2844	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S	COL11A2_ENST00000374712.1_Missense_Mutation_p.P792S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P766S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P852S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P813S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P826S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Missense_Mutation_p.P787S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P847S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	873	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTCTCTCCAGGGGGCCCATGG	0.627000													16	14					0	0	0.006122	0	0
DDX20	11218	broad.mit.edu	37	1	112309275	112309275	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:112309275C>T	ENST00000475700.1	+	3	3411	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	DDX20_ENST00000369702.4_Silent_p.S743S			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	743	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCGGTCTTCCTTCAGATTGC	0.458000													27	19					0	0	0.004656	0	0
DSCAM	1826	broad.mit.edu	37	21	41505877	41505877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:41505877C>T	ENST00000400454.1	-	19	3943	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1156	Fibronectin type-III 3.				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			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)				GTGTACTTTTCCAGCCCGTCC	0.537000													25	17					0	0	0.003954	0	0
OR2M2	391194	broad.mit.edu	37	1	248343836	248343836	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:248343836C>T	ENST00000359682.2	+	1	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AATTCCCTTCCCTACTAATCC	0.413000													27	132					0	0	0.005443	0	0
HTR3B	9177	broad.mit.edu	37	11	113802525	113802525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:113802525G>A	ENST00000260191.2	+	4	561	c.304G>A	c.(304-306)Gag>Aag	p.E102K	HTR3B_ENST00000537778.1_Missense_Mutation_p.E91K	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	102					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CATGTTTGATGAGATTAGAGA	0.418000													5	40					0	0	0.001168	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567926	99567926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:99567926C>T	ENST00000331335.5	-	5	3064	c.2594G>A	c.(2593-2595)tGg>tAg	p.W865*	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Nonsense_Mutation_p.W865*|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.W625*|FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.W625*|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.W441*	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	865						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GGATTTCATCCAGGGAATCCA	0.463000													68	67					0	0	0.003610	0	0
MTDH	92140	broad.mit.edu	37	8	98731362	98731362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:98731362C>T	ENST00000336273.3	+	10	1794	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	MTDH_ENST00000519934.1_Missense_Mutation_p.S433F	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	489					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AAAGCTTTTTCCTTGAAGACC	0.393000													32	47					0	0	0.004878	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058957	152058957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:152058957C>T	ENST00000368806.1	-	3	1265	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	401							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCTGCTGTTCCATGGGCCTCA	0.468000													64	27					0	0	0.003610	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367390	105367390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:105367390C>T	ENST00000297581.2	+	3	1364	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	439					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AGTCAAAAGACGGCTGAGTCT	0.473000													18	33					0	0	0.006122	0	0
MTMR14	64419	broad.mit.edu	37	3	9739528	9739528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:9739528G>A	ENST00000296003.4	+	18	1869	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	MTMR14_ENST00000351233.5_Intron|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	583						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CAGCTTCCCGGATGAGCTCCC	0.567000													99	17					0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54556499	54556499	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:54556499G>A	ENST00000545554.1	+	8	3582	c.3582G>A	c.(3580-3582)caG>caA	p.Q1194Q	UNC13C_ENST00000537900.1_Silent_p.Q1192Q|UNC13C_ENST00000260323.11_Silent_p.Q1194Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1194					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)		AAATGTTTCAGATTTCTAAAG	0.378000													3	14					0	0	0.000248	0	0
SPRY1	10252	broad.mit.edu	37	4	124322750	124322750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:124322750G>A	ENST00000394339.2	+	2	344	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SPRY1_ENST00000339241.1_Missense_Mutation_p.D2N	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	2					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						ACTACACATGGATCCCCAAAA	0.423000													72	16					0	0	0.003610	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141131	63141131	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:63141131C>T	ENST00000279178.3	+	3	771	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	174					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGAGAAGGTTCGTGCTCAGAT	0.458000													22	6					0	0	0.001882	0	0
ADH7	131	broad.mit.edu	37	4	100349083	100349083	+	Silent	SNP	G	G	C	rs1042111		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:100349083G>C	ENST00000437033.2	-	5	914	c.411C>G	c.(409-411)gtC>gtG	p.V137V	ADH7_ENST00000209665.4_Silent_p.V149V|ADH7_ENST00000482593.1_Silent_p.V80V|ADH7_ENST00000476959.1_Silent_p.V157V			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	149					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TGAAGTGGTGGACTGGTTTGC	0.423000													19	55					0	0	0.000958	0	0
ABCA12	26154	broad.mit.edu	37	2	215865705	215865705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:215865705C>T	ENST00000272895.7	-	22	3122	c.2903G>A	c.(2902-2904)aGa>aAa	p.R968K	ABCA12_ENST00000389661.4_Missense_Mutation_p.R650K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	968					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)		GTCATAGCCTCTGTGCCAGCT	0.393000													15	51					0	0	0.002450	0	0
LRRC7	57554	broad.mit.edu	37	1	70493873	70493873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:70493873G>A	ENST00000310961.5	+	19	2133	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	LRRC7_ENST00000035383.5_Missense_Mutation_p.R567Q|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	567						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AACCTAAAACGATATCCAACT	0.323000													40	23					0	0	0.002222	0	0
SPAST	6683	broad.mit.edu	37	2	32340802	32340802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:32340802C>T	ENST00000315285.3	+	6	1027	c.902C>T	c.(901-903)cCt>cTt	p.P301L	SPAST_ENST00000345662.1_Missense_Mutation_p.P269L	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	301	Required for interaction with microtubules and microtubule severing.|Sufficient for interaction with microtubules.|Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACAAATAAACCTTCTACCCCT	0.318000													48	28					0	0	0.003610	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629291	1629291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:1629291C>T	ENST00000399685.1	-	1	402	c.325G>A	c.(325-327)Ggg>Agg	p.G109R		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	109	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCACAGACCCCCTTGGAACCC	0.662000													17	39					0	0	0.000958	0	0
NEDD4L	23327	broad.mit.edu	37	18	56008928	56008928	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:56008928T>C	ENST00000456986.1	+	15	1513	c.913T>C	c.(913-915)Tcc>Ccc	p.S305P	NEDD4L_ENST00000256832.7_Missense_Mutation_p.S285P|NEDD4L_ENST00000586263.1_Missense_Mutation_p.S398P|NEDD4L_ENST00000382850.4_Missense_Mutation_p.S406P|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000400345.3_Missense_Mutation_p.S426P|NEDD4L_ENST00000357895.5_Missense_Mutation_p.S418P|NEDD4L_ENST00000356462.6_Missense_Mutation_p.S362P|NEDD4L_ENST00000456173.2_Missense_Mutation_p.S285P|NEDD4L_ENST00000431212.2_Missense_Mutation_p.S305P|NEDD4L_ENST00000435432.2_Missense_Mutation_p.S285P|NEDD4L_ENST00000256830.9_Intron	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	426					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGATGGTGCGTCCGGATCAGC	0.517000													9	4					0	0	0.004482	0	0
GGT7	2686	broad.mit.edu	37	20	33440320	33440320	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:33440320G>A	ENST00000336431.5	-	11	1385	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	447					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TATGGCCCCGGAGGTAGGCGG	0.577000													28	48					0	0	0.002445	0	0
UNC13C	440279	broad.mit.edu	37	15	54707203	54707203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:54707203G>A	ENST00000545554.1	+	18	4871	c.4871G>A	c.(4870-4872)gGa>gAa	p.G1624E	UNC13C_ENST00000537900.1_Missense_Mutation_p.G1622E|UNC13C_ENST00000260323.11_Missense_Mutation_p.G1624E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1624					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G1624E(1)		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)		CTGAACATGGGAAAAATAAGT	0.299000													17	22					0	0	0.002780	0	0
XKR4	114786	broad.mit.edu	37	8	56436609	56436609	+	Silent	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:56436609A>G	ENST00000327381.5	+	3	1876	c.1776A>G	c.(1774-1776)gaA>gaG	p.E592E		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	592						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGATTGAAGAATCAGTCATTA	0.488000													38	38					0	0	0.001485	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840274	128840274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:128840274G>A	ENST00000310343.9	-	22	4791	c.4792C>T	c.(4792-4794)Ccc>Tcc	p.P1598S	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P1249S|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P1249S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1598	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CGTGAAATGGGAACAGAGCGA	0.542000													18	28					0	0	0.001523	0	0
FAM26E	254228	broad.mit.edu	37	6	116836980	116836980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:116836980C>T	ENST00000368599.3	+	2	809	c.758C>T	c.(757-759)cCt>cTt	p.P253L	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	253						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AGGCCAGATCCTTTTCCCATG	0.483000													39	6					0	0	0.002222	0	0
MUC16	94025	broad.mit.edu	37	19	9072540	9072540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9072540G>A	ENST00000397910.4	-	3	15109	c.14906C>T	c.(14905-14907)tCt>tTt	p.S4969F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4971	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						TATTTCTGCAGATTCTGTCAT	0.502000													38	27					0	0	0.001706	0	0
PCDH12	51294	broad.mit.edu	37	5	141325235	141325235	+	Missense_Mutation	SNP	G	G	T	rs141387550		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:141325235G>T	ENST00000231484.3	-	4	4476	c.3266C>A	c.(3265-3267)aCg>aAg	p.T1089K		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1089					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)			CTTGCCGAACGTCTGGAAGGT	0.607000													32	7					2.85442e-18	5.34595e-18	0.002096	1	0
CSMD1	64478	broad.mit.edu	37	8	3265485	3265485	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:3265485T>C	ENST00000602557.1	-	15	2565	c.2010A>G	c.(2008-2010)atA>atG	p.I670M	CSMD1_ENST00000400186.3_Missense_Mutation_p.I670M|CSMD1_ENST00000542608.1_Missense_Mutation_p.I669M|CSMD1_ENST00000539096.1_Missense_Mutation_p.I669M|CSMD1_ENST00000537824.1_Missense_Mutation_p.I669M|CSMD1_ENST00000602723.1_Missense_Mutation_p.I670M|CSMD1_ENST00000520002.1_Missense_Mutation_p.I670M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	670	CUB 4.					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)		CCAAGCGAACTATATGCCCAC	0.483000													8	19					0	0	0.003080	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222378	134222378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:134222378G>A	ENST00000359579.4	+	7	1026	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	236					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CAAGATTAAGGAGATTGCTGC	0.448000													92	54					0	0	0.003610	0	0
LRIT2	340745	broad.mit.edu	37	10	85981699	85981699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:85981699C>T	ENST00000372113.4	-	3	1635	c.1630G>A	c.(1630-1632)Gga>Aga	p.G544R	LRIT2_ENST00000538192.1_Missense_Mutation_p.G554R	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	544						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCCGTTCCTCCTTTCTCCTTG	0.562000													29	27					0	0	0.002836	0	0
TDRKH	11022	broad.mit.edu	37	1	151751596	151751596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:151751596C>T	ENST00000368822.1	-	5	1177	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	TDRKH_ENST00000368823.1_Missense_Mutation_p.E178K|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137K|TDRKH_ENST00000458431.2_Missense_Mutation_p.E182K|TDRKH_ENST00000368827.6_Missense_Mutation_p.E182K|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.E182K			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	182	KH 2.						RNA binding	p.E182Q(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCCACTTCCTTCTGTGTT	0.398000													71	33					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21235348	21235348	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:21235348C>T	ENST00000233242.1	-	26	4519	c.4392G>A	c.(4390-4392)caG>caA	p.Q1464Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1464					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)	AAGCAGACATCTGTGGTCCCC	0.383000													357	168					0	0	0.003610	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968221	35968221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:35968221C>T	ENST00000274278.3	-	3	568	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	UGT3A1_ENST00000507113.1_Missense_Mutation_p.E37K|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E71K|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.E17K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	71						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATGATTTTTCCTCCTCTTTA	0.299000													13	21					0	0	0.001368	0	0
CYLC1	1538	broad.mit.edu	37	X	83129238	83129238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:83129238G>A	ENST00000329312.4	+	4	1559	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	508					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAAAGAAAGATATCAAGAA	0.353000													11	0					0	0	0.000978	0	0
LRRC7	57554	broad.mit.edu	37	1	70484495	70484495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:70484495G>A	ENST00000310961.5	+	16	1733	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	LRRC7_ENST00000035383.5_Missense_Mutation_p.D434N|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_De_novo_Start_InFrame			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	434						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCTCGTGGTGATGAAGGTAA	0.388000													31	5					0	0	0.002096	0	0
TTN	7273	broad.mit.edu	37	2	179442108	179442108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179442108C>T	ENST00000589042.1	-	324	69178	c.68954G>A	c.(68953-68955)gGa>gAa	p.G22985E	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21344E|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14112E|TTN_ENST00000359218.5_Missense_Mutation_p.G14045E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20417E|TTN_ENST00000460472.2_Missense_Mutation_p.G13920E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21344	Fibronectin type-III 67.						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)			AATGTCTTTTCCTGCCTTGGA	0.398000													8	49					0	0	0.004482	0	0
TPTE	7179	broad.mit.edu	37	21	10914419	10914419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:10914419G>A	ENST00000298232.7	-	20	1613	c.1246C>T	c.(1246-1248)Caa>Taa	p.Q416*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.Q396*|TPTE_ENST00000361285.4_Nonsense_Mutation_p.Q434*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	434	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ATTTCTATTTGGATTTTTAGA	0.313000													5	10					0	0	0.000602	0	0
COL7A1	1294	broad.mit.edu	37	3	48619352	48619352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:48619352C>T	ENST00000328333.8	-	47	4767	c.4660G>A	c.(4660-4662)Gga>Aga	p.G1554R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1554R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1554	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTTTTCTCCTTTGGGTCCA	0.517000													113	22					0	0	0.003610	0	0
FAM219A	203259	broad.mit.edu	37	9	34401684	34401684	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:34401684A>G	ENST00000445726.1	-	5	685	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	FAM219A_ENST00000379084.1_Missense_Mutation_p.S109P|FAM219A_ENST00000379089.1_Missense_Mutation_p.S126P|FAM219A_ENST00000379080.1_Missense_Mutation_p.S115P|FAM219A_ENST00000297620.4_Missense_Mutation_p.S110P|FAM219A_ENST00000379087.1_Missense_Mutation_p.S109P|FAM219A_ENST00000379081.1_Missense_Mutation_p.S98P	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	127																	GAGTAGCCGGAGGAGGAGTAT	0.557000													10	1					0	0	0.001368	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72505062	72505062	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:72505062G>A	ENST00000373208.1	+	15	2272	c.2272_splice	c.e15+1	p.V758_splice	ADAMTS14_ENST00000373207.1_Splice_Site_p.V755_splice	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	755	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCACCGCATTGGTGAGTGCTG	0.622000													7	13					0	0	0.001984	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184799	118184799	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:118184799T>C	ENST00000427715.2	+	11	1276	c.842T>C	c.(841-843)gTt>gCt	p.V281A	SLC30A8_ENST00000456015.2_Missense_Mutation_p.V330A|SLC30A8_ENST00000519688.1_Missense_Mutation_p.V281A|SLC30A8_ENST00000521243.1_Missense_Mutation_p.V281A	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	330					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGCCAAGTGGTTCGGAGAGAA	0.507000													112	148					0	0	0.003610	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882211	78882211	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:78882211T>G	ENST00000299565.5	+	5	678	c.478T>G	c.(478-480)Tgg>Ggg	p.W160G	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	160					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						CACTGTCACCTGGACTCCACC	0.403000													39	54					0	0	0.003214	0	0
SEC14L1	6397	broad.mit.edu	37	17	75190973	75190973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:75190973C>T	ENST00000413679.2	+	7	992	c.689C>T	c.(688-690)cCc>cTc	p.P230L	SEC14L1_ENST00000591437.1_Missense_Mutation_p.P196L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.P230L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.P230L|SEC14L1_ENST00000430767.4_Missense_Mutation_p.P230L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.P230L|SEC14L1_ENST00000431431.2_Missense_Mutation_p.P196L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.P230L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	230					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCACCTGAGCCCGTGGTGGGC	0.632000													44	10					0	0	0.002222	0	0
MARCH11	441061	broad.mit.edu	37	5	16091132	16091132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:16091132C>T	ENST00000332432.8	-	3	951	c.752G>A	c.(751-753)gGa>gAa	p.G251E	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	251						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GAACAGGGATCCTAGGATTAC	0.443000													12	8					0	0	0.001855	0	0
TG	7038	broad.mit.edu	37	8	133953646	133953646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:133953646C>T	ENST00000220616.4	+	26	5132	c.5092C>T	c.(5092-5094)Caa>Taa	p.Q1698*	TG_ENST00000377869.1_Nonsense_Mutation_p.Q1641*|TG_ENST00000542445.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1698					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACTGGTTTCCAAAACATGCT	0.473000													40	63					0	0	0.002852	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55047106	55047106	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:55047106C>T	ENST00000335056.3	+	4	689	c.651C>T	c.(649-651)atC>atT	p.I217I	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ACATTGTGATCACAGGTGAGT	0.527000													27	38					0	0	0.001061	0	0
FGA	2243	broad.mit.edu	37	4	155508667	155508667	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:155508667C>T	ENST00000302053.3	-	4	585	c.507G>A	c.(505-507)ctG>ctA	p.L169L	FGA_ENST00000403106.3_Silent_p.L169L	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	169					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)	TACTTACCTCCAGTCGTTTCA	0.428000													4	26					0	0	0.000248	0	0
DNAH5	1767	broad.mit.edu	37	5	13841216	13841216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:13841216C>T	ENST00000265104.4	-	34	5612	c.5508G>A	c.(5506-5508)atG>atA	p.M1836I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1836	Stem (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)					GTGTCCATATCATCTGAATTC	0.323000									Kartagener syndrome				24	27					0	0	0.002780	0	0
THSD7B	80731	broad.mit.edu	37	2	137917850	137917850	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:137917850C>T	ENST00000409968.1	+	6	1615	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.I479I|THSD7B_ENST00000413152.2_Silent_p.I448I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTGCAATATCCCTTGCTCTA	0.517000													8	32					0	0	0.003080	0	0
SLC6A9	6536	broad.mit.edu	37	1	44466575	44466575	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:44466575G>A	ENST00000372306.3	-	11	1627	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L	SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372310.3_Intron			P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	654						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCGCAGGACAGAGTGGGCGGG	0.617000													8	30					0	0	0.003080	0	0
SAT2	112483	broad.mit.edu	37	17	7530080	7530080	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:7530080C>T	ENST00000269298.5	-	5	555	c.336G>A	c.(334-336)aaG>aaA	p.K112K	SHBG_ENST00000576728.1_Intron|SAT2_ENST00000573566.1_Silent_p.K78K|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	112	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	CCTCAGCCACCTTTTTGATTA	0.493000													31	9					0	0	0.003271	0	0
CLPX	10845	broad.mit.edu	37	15	65443233	65443233	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:65443233G>A	ENST00000300107.3	-	14	2018	c.1830C>T	c.(1828-1830)tcC>tcT	p.S610S		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	610					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CCTCTTCAGAGGATTCTTTTG	0.373000													56	64					0	0	0.003610	0	0
GABRG1	2565	broad.mit.edu	37	4	46066497	46066497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:46066497G>A	ENST00000295452.4	-	5	753	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	196					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCATCCATGGGAAAGTTATGA	0.269000													17	70					0	0	0.001882	0	0
KLK5	25818	broad.mit.edu	37	19	51453345	51453345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:51453345G>A	ENST00000336334.3	-	3	453	c.101C>T	c.(100-102)tCc>tTc	p.S34F	KLK5_ENST00000593428.1_Missense_Mutation_p.S34F|KLK5_ENST00000391809.2_Missense_Mutation_p.S34F	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	34				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GTGGTCACAGGAAACATCATT	0.632000													12	11					0	0	0.000978	0	0
KIAA1109	84162	broad.mit.edu	37	4	123183929	123183929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:123183929C>T	ENST00000264501.4	+	43	7146	c.6773C>T	c.(6772-6774)cCa>cTa	p.P2258L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P2258L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P2258L			Q2LD37	K1109_HUMAN	KIAA1109	2258					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCATTCACCCATATCATTCT	0.413000													38	14					0	0	0.001951	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													31	267					0	0	0.005524	0	0
POM121L12	285877	broad.mit.edu	37	7	53104076	53104076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:53104076C>T	ENST00000408890.4	+	1	728	c.712C>T	c.(712-714)Ccg>Tcg	p.P238S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	238										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCTCTGAAGCCGAGCCTCGG	0.657000													10	40					0	0	0.000673	0	0
C8orf58	541565	broad.mit.edu	37	8	22460140	22460140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:22460140G>A	ENST00000409586.3	+	6	1066	c.946G>A	c.(946-948)Gat>Aat	p.D316N	C8orf58_ENST00000289989.5_Missense_Mutation_p.D324N	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	324										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGCCCCTCCTGATGGCTCTGA	0.612000													11	20					0	0	0.001855	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897652	130897652	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:130897652G>A	ENST00000392984.3	-	5	1943	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	CCDC74B_ENST00000409943.3_Silent_p.S232S|CCDC74B_ENST00000310463.6_Silent_p.S298S			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	298										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTTCCAGGAGGGACTTGAGGT	0.701000													3	13					0	0	0.000248	0	0
DCC	1630	broad.mit.edu	37	18	50683792	50683792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:50683792G>A	ENST00000442544.2	+	8	1944	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	DCC_ENST00000412726.1_Missense_Mutation_p.R291Q|DCC_ENST00000581580.1_Missense_Mutation_p.R98Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	443	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R443Q(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTTTCCAGCCGATTTGTCCGT	0.527000													31	70					0	0	0.005524	0	0
DNAH9	1770	broad.mit.edu	37	17	11556195	11556195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:11556195C>T	ENST00000262442.3	+	14	2539	c.2471C>T	c.(2470-2472)cCa>cTa	p.P824L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P824L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	824	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGGTGACTCCAATATTTAAG	0.358000													31	3					0	0	0.003755	0	0
PSMB2	5690	broad.mit.edu	37	1	36068944	36068944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:36068944G>A	ENST00000373237.3	-	6	941	c.530C>T	c.(529-531)aCc>aTc	p.T177I		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	177					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|interspecies interaction between organisms|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	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	AACACTGAAGGTTGGCAGATT	0.458000													76	26					0	0	0.003610	0	0
NDN	4692	broad.mit.edu	37	15	23932237	23932237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:23932237C>T	ENST00000331837.4	-	1	213	c.128G>A	c.(127-129)aGc>aAc	p.S43N		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	43					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TAGAGGAGGGCTCTGCGGCTC	0.731000									Prader-Willi syndrome				12	8					0	0	0.001368	0	0
LILRA2	11027	broad.mit.edu	37	19	55087523	55087523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:55087523C>T	ENST00000251377.3	+	7	1335	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	LILRA2_ENST00000251376.3_Missense_Mutation_p.S401F|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S389F|LILRA2_ENST00000391738.3_Missense_Mutation_p.S401F|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCACTCAGCTCCAACCCCTAC	0.597000													27	48					0	0	0.001271	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952981	119952981	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:119952981G>A	ENST00000307142.4	+	4	3247	c.3051G>A	c.(3049-3051)acG>acA	p.T1017T	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.T1017T|SYNPO2_ENST00000429713.2_Silent_p.T1017T	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	1017						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTCACCTACGAATGTGCAGG	0.567000													23	5					0	0	0.003330	0	0
ATP13A4	84239	broad.mit.edu	37	3	193125150	193125150	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:193125150G>A	ENST00000342695.4	-	29	3652	c.3330C>T	c.(3328-3330)tcC>tcT	p.S1110S	ATP13A4_ENST00000392443.3_Silent_p.S1091S|ATP13A4_ENST00000400270.2_Silent_p.S126S|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1110					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)		TGATGACAATGGAGGCCCTCC	0.527000													17	47					0	0	0.001523	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590897	141590897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:141590897G>A	ENST00000442267.2	-	8	1402	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	443						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTCCATCAGCATCAGAGCT	0.572000													4	24					0	0	0.000602	0	0
LRRC14	9684	broad.mit.edu	37	8	145745204	145745204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:145745204C>T	ENST00000292524.1	+	2	241	c.95C>T	c.(94-96)cCc>cTc	p.P32L	LRRC14_ENST00000529022.1_Missense_Mutation_p.P32L	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	32										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAACTCTTCCCCCTGCTGTTC	0.607000													28	30					0	0	0.001271	0	0
SATB2	23314	broad.mit.edu	37	2	200193516	200193516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:200193516G>A	ENST00000443023.1	-	7	2579	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	SATB2_ENST00000260926.5_Missense_Mutation_p.R431C|SATB2_ENST00000428695.1_Missense_Mutation_p.R313C|SATB2_ENST00000457245.1_Missense_Mutation_p.R431C|SATB2_ENST00000417098.1_Missense_Mutation_p.R431C|RP11-486F17.1_ENST00000489557.2_RNA			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	431						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGTAGATGCGATCTCGCTCC	0.562000													12	48					0	0	0.000978	0	0
LONRF2	164832	broad.mit.edu	37	2	100917174	100917174	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:100917174T>G	ENST00000393437.3	-	4	1636	c.997A>C	c.(997-999)Aag>Cag	p.K333Q	LONRF2_ENST00000409647.1_Missense_Mutation_p.K90Q	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	333					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CCCTGAGCCTTTAATCTGCTT	0.438000													44	18					0	0	0.002222	0	0
AGTR2	186	broad.mit.edu	37	X	115304558	115304558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:115304558G>A	ENST00000371906.4	+	3	1215	c.1025G>A	c.(1024-1026)gGg>gAg	p.G342E		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	342					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGGCTCCAAGGGAAAAGAGAG	0.438000													56	4					0	0	0.003610	0	0
HNF4A	3172	broad.mit.edu	37	20	42984464	42984464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:42984464C>T	ENST00000457232.1	+	1	24	c.20C>T	c.(19-21)cCc>cTc	p.P7L		NM_001030003.2|NM_175914.4	NP_001025174.1|NP_787110.2	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	155					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTGAACGCGCCCCTCGGGGCT	0.682000													99	140					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38936092	38936092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:38936092C>T	ENST00000302328.3	-	15	2965	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	SCN11A_ENST00000444237.2_Missense_Mutation_p.E923K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E923K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E923K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	923					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACGTCATCTTCCTCCTCCGCA	0.498000													76	16					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179611274	179611274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179611274G>A	ENST00000360870.5	-	46	16075	c.15853C>T	c.(15853-15855)Cca>Tca	p.P5285S	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8803	Ig-like 33.						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)			TGTGTTACTGGAGGTGGTAGT	0.428000													10	28					0	0	0.000443	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254047	39254047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:39254047G>A	ENST00000333822.4	-	1	346	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	97	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcagcagctggagatgcagca	0.672000													17	4					0	0	0.004007	0	0
SPTBN4	57731	broad.mit.edu	37	19	41000807	41000807	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:41000807C>T	ENST00000352632.3	+	6	677	c.591C>T	c.(589-591)taC>taT	p.Y197Y	SPTBN4_ENST00000595535.1_Silent_p.Y197Y|SPTBN4_ENST00000598249.1_Silent_p.Y197Y|SPTBN4_ENST00000338932.3_Silent_p.Y197Y|SPTBN4_ENST00000344104.3_Silent_p.Y197Y			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	197	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			cttccAGTTACCCTGAGGTAA	0.547000													13	30					0	0	0.002450	0	0
OR2C3	81472	broad.mit.edu	37	1	247695748	247695748	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:247695748G>A	ENST00000366487.3	-	2	427	c.66C>T	c.(64-66)ccC>ccT	p.P22P	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TTTCTAGTGAGGGTCGTGTGG	0.488000													7	27					0	0	0.001984	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010066	24010066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:24010066G>A	ENST00000496398.1	+	4	526	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	RPSAP58_ENST00000354585.4_Missense_Mutation_p.E35K|RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCCAGATGGAACACTACAT	0.473000													4	1					0	0	0.000602	0	0
CPXM1	56265	broad.mit.edu	37	20	2778646	2778646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:2778646C>T	ENST00000380605.2	-	5	713	c.649G>A	c.(649-651)Gga>Aga	p.G217R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	217	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTCCTACTTCCCCACCAGGTC	0.602000													13	35					0	0	0.002450	0	0
ATP1A3	478	broad.mit.edu	37	19	42490289	42490289	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:42490289G>A	ENST00000545399.1	-	5	642	c.489C>T	c.(487-489)tcC>tcT	p.S163S	ATP1A3_ENST00000543770.1_Silent_p.S161S|ATP1A3_ENST00000602133.1_Silent_p.S120S|ATP1A3_ENST00000302102.5_Silent_p.S150S	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	150					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGTTCTTGAAGGACTCCATGA	0.632000													32	65					0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179596608	179596608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179596608G>A	ENST00000589042.1	-	58	17218	c.16994C>T	c.(16993-16995)cCc>cTc	p.P5665L	TTN_ENST00000591111.1_Missense_Mutation_p.P5348L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4421L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5348	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P4421H(1)		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)			GATCTCAAAGGGAGGAGTGCC	0.423000													23	94					0	0	0.002780	0	0
OAS3	4940	broad.mit.edu	37	12	113403830	113403830	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:113403830C>T	ENST00000228928.7	+	12	2864	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	895	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCTTTGACGCCCTAGGTGAGG	0.577000													17	5					0	0	0.002780	0	0
HNF4A	3172	broad.mit.edu	37	20	42984463	42984463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:42984463C>T	ENST00000457232.1	+	1	23	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S		NM_001030003.2|NM_175914.4	NP_001025174.1|NP_787110.2	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	155					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGTGAACGCGCCCCTCGGGGC	0.682000													98	137					0	0	0.003610	0	0
CCDC127	133957	broad.mit.edu	37	5	205858	205858	+	Silent	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:205858A>G	ENST00000296824.3	-	3	469	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	113										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TCTTCTACCAACTTGCGTCCC	0.488000													45	43					0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55568779	55568779	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:55568779C>T	ENST00000395445.1	-	36	5425	c.5031G>A	c.(5029-5031)agG>agA	p.R1677R	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Silent_p.R542R|PCDH15_ENST00000395440.1_Silent_p.R611R|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395446.1_Silent_p.R873R	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				gctcctcttTCCTACCCTTGA	0.448000										HNSCC(58;0.16)			4	4					0	0	0.000248	0	0
SP140	11262	broad.mit.edu	37	2	231112687	231112687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:231112687G>A	ENST00000392045.3	+	8	913	c.799G>A	c.(799-801)Gag>Aag	p.E267K	SP140_ENST00000343805.6_Missense_Mutation_p.E241K|SP140_ENST00000420434.3_Missense_Mutation_p.E267K|SP140_ENST00000417495.3_Intron|SP140_ENST00000350136.5_Intron|SP140_ENST00000486687.2_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	267					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)		AGCACCAGGGGAGAAACAGGG	0.473000													41	25					0	0	0.001485	0	0
DOCK4	9732	broad.mit.edu	37	7	111503501	111503501	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:111503501C>T	ENST00000428084.1	-	23	2672	c.2400G>A	c.(2398-2400)gtG>gtA	p.V800V	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.V800V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	800					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGAATCATCCACATGCAGGA	0.532000													36	21					0	0	0.001951	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021033	45021033	+	RNA	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:45021033G>A	ENST00000454753.1	-	0	1561							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GACTGAAGTGGAGCGGGCCAG	0.597000													159	206					0	0	0.003610	0	0
CLDND2	125875	broad.mit.edu	37	19	51870410	51870410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:51870410G>A	ENST00000291715.1	-	4	915	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	CLDND2_ENST00000601435.1_Missense_Mutation_p.P164S|CTD-2616J11.11_ENST00000600067.1_Intron	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	164						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGACACACGGGGAATCCACTG	0.622000													22	31					0	0	0.004656	0	0
TNFSF10	8743	broad.mit.edu	37	3	172227089	172227089	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:172227089G>A	ENST00000241261.2	-	4	458	c.336C>T	c.(334-336)ccC>ccT	p.P112P	TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	112					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTCTCACTAGGGGAGAAATAT	0.403000													32	43					0	0	0.004289	0	0
LTBP2	4053	broad.mit.edu	37	14	74971811	74971811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:74971811G>A	ENST00000261978.4	-	29	4630	c.4244C>T	c.(4243-4245)tCc>tTc	p.S1415F	LTBP2_ENST00000556690.1_Missense_Mutation_p.S1371F	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1415	TB 3.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTTCTGCCCGGAGTAGCAGTC	0.637000													35	0					0	0	0.002836	0	0
SCN11A	11280	broad.mit.edu	37	3	38946682	38946682	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:38946682C>T	ENST00000302328.3	-	11	1802		c.e11+1		SCN11A_ENST00000444237.2_Splice_Site|SCN11A_ENST00000450244.1_Splice_Site|SCN11A_ENST00000456224.3_Splice_Site	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTGGAACTTACCCTTCATGGT	0.493000													53	8					0	0	0.003610	0	0
ABCA10	10349	broad.mit.edu	37	17	67197686	67197686	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:67197686G>T	ENST00000269081.4	-	11	2039	c.1130C>A	c.(1129-1131)tCt>tAt	p.S377Y	ABCA10_ENST00000416101.2_Missense_Mutation_p.S377Y|ABCA10_ENST00000432313.2_Missense_Mutation_p.S377Y	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	377					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CGGTTCAAAAGAATCATCAGA	0.333000													40	6					2.58029e-29	4.85801e-29	0.002222	1	0
MGAM	8972	broad.mit.edu	37	7	141799452	141799452	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:141799452C>G	ENST00000475668.2	+	67	7843	c.7789C>G	c.(7789-7791)Cca>Gca	p.P2597A	MGAM_ENST00000549489.2_Missense_Mutation_p.P1701A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1701					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)	GAAGACCTTGCCAGCCCCTCT	0.527000													20	73					0	0	0.002780	0	0
LRFN2	57497	broad.mit.edu	37	6	40360351	40360351	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:40360351C>T	ENST00000338305.6	-	3	2243	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	567						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCGCTGCCATCTTGCTGGGGG	0.672000													5	25					0	0	0.001984	0	0
SDK2	54549	broad.mit.edu	37	17	71426687	71426687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:71426687C>T	ENST00000392650.3	-	12	1546	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	SDK2_ENST00000388726.3_Missense_Mutation_p.V516M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	516	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACTCCGCACACCATGGAGGCC	0.597000													8	0					0	0	0.003080	0	0
PAAF1	80227	broad.mit.edu	37	11	73625470	73625470	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:73625470T>C	ENST00000544909.1	+	6	1000	c.743T>C	c.(742-744)gTt>gCt	p.V248A	PAAF1_ENST00000544552.1_Missense_Mutation_p.V230A|PAAF1_ENST00000541951.1_Missense_Mutation_p.V132A|PAAF1_ENST00000376384.5_Missense_Mutation_p.V230A|PAAF1_ENST00000535604.1_Missense_Mutation_p.V132A|PAAF1_ENST00000536003.1_Missense_Mutation_p.V230A|PAAF1_ENST00000310571.3_Missense_Mutation_p.V247A			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	247					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GAACGGGAGGTTGGAACAGAG	0.483000													25	18					0	0	0.001512	0	0
TNS1	7145	broad.mit.edu	37	2	218712975	218712975	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:218712975G>A	ENST00000171887.4	-	17	2342	c.1890C>T	c.(1888-1890)ccC>ccT	p.P630P	TNS1_ENST00000430930.1_Silent_p.P630P|TNS1_ENST00000419504.1_Silent_p.P630P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	630						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCGGAGCTGGGGGCAGCTGGG	0.647000													39	20					0	0	0.001951	0	0
CLDN1	9076	broad.mit.edu	37	3	190026224	190026224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:190026224C>T	ENST00000295522.3	-	4	746	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	160					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TGACCAAATTCGTACCTAAAA	0.398000													17	27					0	0	0.001216	0	0
DEF6	50619	broad.mit.edu	37	6	35289056	35289056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:35289056G>A	ENST00000316637.5	+	11	1770	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	DEF6_ENST00000542066.1_Missense_Mutation_p.G334R	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	589						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GACCCGCTGGGGATCCCAGGG	0.642000													68	40					0	0	0.003610	0	0
OR1B1	347169	broad.mit.edu	37	9	125390912	125390912	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:125390912C>T	ENST00000304833.3	-	1	940	c.903G>A	c.(901-903)aaG>aaA	p.K301K	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CCTTGACATCCTTATTGTGGA	0.488000													26	5					0	0	0.003954	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632506	111632506	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:111632506C>G	ENST00000431670.2	+	3	2087	c.1676C>G	c.(1675-1677)cCg>cGg	p.P559R	PHLDB2_ENST00000495180.1_Missense_Mutation_p.P145R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.P559R|PHLDB2_ENST00000393925.3_Missense_Mutation_p.P559R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P559R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P586R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.P559R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	559						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCCACCTTTCCGAAAGCTTCC	0.502000													73	101					0	0	0.003610	0	0
CCDC33	80125	broad.mit.edu	37	15	74625049	74625049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:74625049C>T	ENST00000321288.5	+	18	2410	c.2410C>T	c.(2410-2412)Ccc>Tcc	p.P804S	CCDC33_ENST00000558821.1_Missense_Mutation_p.P194S|CCDC33_ENST00000398814.3_Missense_Mutation_p.P601S|CCDC33_ENST00000268082.4_Missense_Mutation_p.P194S			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	804							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCTGGCCTTCCCTTGGGTTC	0.577000													57	81					0	0	0.003610	0	0
PRSS16	10279	broad.mit.edu	37	6	27216986	27216986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:27216986C>T	ENST00000230582.3	+	4	460	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	149					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCCCAGCTCCGCTTCTTGTC	0.562000													46	24					0	0	0.003610	0	0
ATP9A	10079	broad.mit.edu	37	20	50290724	50290724	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:50290724G>A	ENST00000338821.5	-	11	1269	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ATP9A_ENST00000311637.5_Silent_p.F199F|ATP9A_ENST00000402822.1_Silent_p.F214F	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	335					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACAAGAGGAGGAAGCGGATGA	0.517000													23	34					0	0	0.004656	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579277	44579277	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:44579277A>G	ENST00000289547.4	-	2	774	c.719T>C	c.(718-720)gTt>gCt	p.V240A	NPC1L1_ENST00000546276.1_Missense_Mutation_p.V240A|NPC1L1_ENST00000423141.1_Missense_Mutation_p.V240A|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V240A	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	240					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCAACGTGCAACCCCCTCATT	0.632000													28	23					0	0	0.001061	0	0
PNPLA5	150379	broad.mit.edu	37	22	44282289	44282289	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:44282289G>A	ENST00000216177.4	-	6	975	c.843C>T	c.(841-843)ggC>ggT	p.G281G	PNPLA5_ENST00000593866.1_Silent_p.G167G|PNPLA5_ENST00000597664.1_Silent_p.G281G|PNPLA5_ENST00000381198.2_Silent_p.G167G	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	281					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GTTGGTCACAGCCAGCATCCC	0.592000													32	63					0	0	0.002836	0	0
AMPD3	272	broad.mit.edu	37	11	10503703	10503703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:10503703C>T	ENST00000444303.2	+	3	515	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S	AMPD3_ENST00000396554.3_Missense_Mutation_p.P183S	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	174					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCACCGCTTCCCGCGGATCAC	0.612000													59	32					0	0	0.003610	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43663577	43663577	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:43663577C>T	ENST00000564079.1	+	1	265	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	TUBGCP4_ENST00000570081.1_Intron|TUBGCP4_ENST00000260383.7_Silent_p.L9L	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	9					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GCTCTTGGCTCTGAGCGGGTA	0.657000											OREG0023087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	26					0	0	0.001061	0	0
SETX	23064	broad.mit.edu	37	9	135158696	135158696	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:135158696G>A	ENST00000372169.2	-	19	6683	c.6501C>T	c.(6499-6501)ttC>ttT	p.F2167F	SETX_ENST00000224140.5_Silent_p.F2167F|SETX_ENST00000393220.1_Silent_p.F2167F			Q7Z333	SETX_HUMAN	senataxin	2167					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTTGCCCACGGAAAGCAGACT	0.473000													28	4					0	0	0.001512	0	0
DAND5	199699	broad.mit.edu	37	19	13080481	13080481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:13080481C>T	ENST00000317060.2	+	1	186	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	DAND5_ENST00000585548.1_Missense_Mutation_p.L33F	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	3						extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			gcagaTGCTCCTTGGCCAGCT	0.617000													30	73					0	0	0.001512	0	0
NCOA6	23054	broad.mit.edu	37	20	33331098	33331098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:33331098G>A	ENST00000374796.2	-	12	5532	c.2962C>T	c.(2962-2964)Cct>Tct	p.P988S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P988S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	988	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATGAGTTGAGGAGGCATCTGC	0.532000													35	31					0	0	0.003271	0	0
SLC16A4	9122	broad.mit.edu	37	1	110906415	110906415	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:110906415G>C	ENST00000437429.2	-	7	1373	c.1127C>G	c.(1126-1128)cCg>cGg	p.P376R	SLC16A4_ENST00000541986.1_Silent_p.A417A|SLC16A4_ENST00000472422.2_Silent_p.A431A|SLC16A4_ENST00000369779.4_Silent_p.A479A|SLC16A4_ENST00000369781.4_Silent_p.A311A	NM_001201548.1	NP_001188477.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	0						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TCCATCTTTCGGCCAATGGTA	0.373000													5	34					0	0	0.001168	0	0
GEM	2669	broad.mit.edu	37	8	95272505	95272505	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:95272505T>A	ENST00000297596.2	-	2	491	c.227A>T	c.(226-228)tAc>tTc	p.Y76F	GEM_ENST00000396194.2_Missense_Mutation_p.Y76F	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	76					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CACCACTCGGTAGTAGGTGTT	0.597000													22	31					0	0	0.002299	0	0
ACR	49	broad.mit.edu	37	22	51182579	51182579	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:51182579T>A	ENST00000216139.5	+	4	696	c.656T>A	c.(655-657)gTt>gAt	p.V219D	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	219	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AATGGGCGCGTTCAGCCAACC	0.572000													57	176					0	0	0.003610	0	0
UGT1A7	54577	broad.mit.edu	37	2	234590981	234590981	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:234590981T>C	ENST00000373426.3	+	1	398	c.398T>C	c.(397-399)tTa>tCa	p.L133S	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GACCGAAAATTAGTAGAATAC	0.363000													29	86					0	0	0.005443	0	0
TRIM31	11074	broad.mit.edu	37	6	30071943	30071943	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:30071943C>T	ENST00000376734.3	-	8	1085	c.958_splice	c.e8-1	p.W320_splice	TRIM31_ENST00000540829.1_Splice_Site_p.W320_splice	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	320						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GTAACAAGCCCCCTAAAAATT	0.403000													17	48					0	0	0.004007	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319179	21319179	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:21319179C>T	ENST00000583088.1	+	3	1420	c.525C>T	c.(523-525)ttC>ttT	p.F175F	KCNJ12_ENST00000331718.5_Silent_p.F175F	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TCGACTCCTTCATGATTGGTG	0.637000										Prostate(3;0.18)			10	22					0	0	0.001368	0	0
PYGB	5834	broad.mit.edu	37	20	25252026	25252026	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:25252026C>T	ENST00000216962.4	+	4	542	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	144					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CAGCGTGTTTCCTTGACTCAA	0.502000													78	76					0	0	0.003610	0	0
COL22A1	169044	broad.mit.edu	37	8	139642950	139642950	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:139642950G>A	ENST00000303045.6	-	50	4097	c.3651C>T	c.(3649-3651)atC>atT	p.I1217I	COL22A1_ENST00000435777.1_Silent_p.I1197I|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1217	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTGACCCTTGGATTCCTGGTG	0.473000										HNSCC(7;0.00092)			65	99					0	0	0.003610	0	0
NUP98	4928	broad.mit.edu	37	11	3781771	3781771	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:3781771A>G	ENST00000324932.7	-	10	1592	c.1172T>C	c.(1171-1173)tTt>tCt	p.F391S	NUP98_ENST00000397004.4_Missense_Mutation_p.F391S|NUP98_ENST00000397007.4_Missense_Mutation_p.F391S|NUP98_ENST00000359171.4_Missense_Mutation_p.F391S|NUP98_ENST00000355260.3_Missense_Mutation_p.F391S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	391	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTTGTTACCAAAGAGCCCGCC	0.393000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								31	16					0	0	0.002096	0	0
MUC16	94025	broad.mit.edu	37	19	9062444	9062444	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9062444G>A	ENST00000397910.4	-	3	25205	c.25002C>T	c.(25000-25002)acC>acT	p.T8334T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8336	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						CTTCCAAAGTGGTCAGTCTCT	0.493000													54	60					0	0	0.003610	0	0
ATP10A	57194	broad.mit.edu	37	15	26026297	26026297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:26026297C>T	ENST00000356865.6	-	2	634	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	175					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E175K(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGAAGATTTCGTTGCAGCGA	0.498000													21	27					0	0	0.001216	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741397	140741397	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:140741397C>T	ENST00000522605.1	+	1	1695	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTACCCCGCGCTGGGGC	0.692000													22	6					0	0	0.003954	0	0
ACD	65057	broad.mit.edu	37	16	67694175	67694175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:67694175C>T	ENST00000219251.8	-	1	538	c.207G>A	c.(205-207)tgG>tgA	p.W69*	ACD_ENST00000393919.4_Nonsense_Mutation_p.W69*	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	69					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCGGGCGCCCAGGCCCCGC	0.731000													29	17					0	0	0.001061	0	0
KIF15	56992	broad.mit.edu	37	3	44872506	44872506	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:44872506T>A	ENST00000326047.4	+	26	3316	c.3167T>A	c.(3166-3168)aTa>aAa	p.I1056K	KIF15_ENST00000425755.1_Missense_Mutation_p.I691K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1056					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)		TCTGAGGACATAGAGGTAGGT	0.373000													49	6					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	3038658	3038658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:3038658G>A	ENST00000602557.1	-	38	6257	c.5702C>T	c.(5701-5703)gCt>gTt	p.A1901V	CSMD1_ENST00000400186.3_Missense_Mutation_p.A1901V|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1900V|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1900V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1900V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1901V|CSMD1_ENST00000520002.1_Missense_Mutation_p.A1901V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1901	CUB 11.					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)		GAAACCAGCAGCTGCCACACT	0.408000													18	17					0	0	0.001882	0	0
MAP4K1	11184	broad.mit.edu	37	19	39096304	39096304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:39096304C>T	ENST00000591517.1	-	18	1295	c.1267G>A	c.(1267-1269)Ggg>Agg	p.G423R	MAP4K1_ENST00000396857.2_Missense_Mutation_p.G423R|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G419R|MAP4K1_ENST00000423454.2_Missense_Mutation_p.G85R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	423					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCAGCACCCCCGGGCTCAGC	0.652000													8	13					0	0	0.000443	0	0
OR2A25	392138	broad.mit.edu	37	7	143771369	143771369	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:143771369C>T	ENST00000408898.2	+	1	95	c.57C>T	c.(55-57)ggC>ggT	p.G19G		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTCCCATTGGCCCAAGGATTC	0.498000													98	49					0	0	0.003610	0	0
LRCH4	4034	broad.mit.edu	37	7	100179958	100179958	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:100179958G>A	ENST00000310300.6	-	2	397	c.345C>T	c.(343-345)gcC>gcT	p.A115A	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	115					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTAGGTGAGGGCTGTGAGAT	0.627000													31	58					0	0	0.003271	0	0
DNAH5	1767	broad.mit.edu	37	5	13701415	13701415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:13701415C>T	ENST00000265104.4	-	77	13573	c.13469G>A	c.(13468-13470)gGa>gAa	p.G4490E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4490					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)					AGTTAAAAATCCCTGGGGGTT	0.408000									Kartagener syndrome				35	38					0	0	0.004289	0	0
ZNF341	84905	broad.mit.edu	37	20	32344994	32344994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:32344994C>T	ENST00000375200.1	+	6	1147	c.782C>T	c.(781-783)cCc>cTc	p.P261L	ZNF341_ENST00000342427.2_Missense_Mutation_p.P261L			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TATCCCACCCCCACAGTGTAC	0.617000													73	97					0	0	0.003610	0	0
EPHB2	2048	broad.mit.edu	37	1	23235571	23235571	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:23235571C>T	ENST00000400191.3	+	13	2427	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	EPHB2_ENST00000374627.1_Silent_p.F798F|EPHB2_ENST00000374632.3_Silent_p.F804F|EPHB2_ENST00000374630.3_Silent_p.F803F	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	803	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)		ACCGGAAGTTCACCTCGGCCA	0.597000													7	31					0	0	0.004482	0	0
PTPN9	5780	broad.mit.edu	37	15	75761201	75761201	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:75761201T>C	ENST00000306726.2	-	13	2203	c.1691A>G	c.(1690-1692)tAc>tGc	p.Y564C		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	564	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAAAAATAGTACTGCTCAGG	0.562000													42	35					0	0	0.001951	0	0
DUOX2	50506	broad.mit.edu	37	15	45389836	45389836	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:45389836G>A	ENST00000389039.6	-	28	4054	c.3669C>T	c.(3667-3669)caC>caT	p.H1223H	DUOX2_ENST00000603300.1_Silent_p.H1223H			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1223	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGATGTAGAGGTGGTGGGTCA	0.612000													55	66					0	0	0.003610	0	0
TNFSF9	8744	broad.mit.edu	37	19	6534954	6534954	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:6534954C>T	ENST00000245817.3	+	3	680	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	214					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						GCCTGGGCGTCCATCTTCACA	0.682000													15	15					0	0	0.003163	0	0
SCN1A	6323	broad.mit.edu	37	2	166848693	166848693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:166848693C>T	ENST00000423058.2	-	26	5109	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K	SCN1A_ENST00000303395.4_Missense_Mutation_p.E1698K|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1670K|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1687K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1698						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATCCCAACTTCCCTCTTAACA	0.468000													27	115					0	0	0.005443	0	0
CCDC11	220136	broad.mit.edu	37	18	47788448	47788448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:47788448C>T	ENST00000398545.4	-	2	328	c.211G>A	c.(211-213)Gac>Aac	p.D71N		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	71										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATCTTGCAGTCATTGTGCTGG	0.443000													36	71					0	0	0.001287	0	0
TTN	7273	broad.mit.edu	37	2	179610843	179610843	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179610843C>T	ENST00000360870.5	-	46	16506	c.16284G>A	c.(16282-16284)gtG>gtA	p.V5428V	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8935	Ig-like 35.						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)			CCTCGCTAATCACGTATTTAA	0.398000													14	72					0	0	0.004007	0	0
KRT9	3857	broad.mit.edu	37	17	39723922	39723922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:39723922C>T	ENST00000246662.4	-	7	1540	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E	KRT9_ENST00000588431.1_Missense_Mutation_p.G259E	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	492	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				gcctccacttcctcccctgga	0.547000													8	0					0	0	0.003080	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851329	31851329	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:31851329G>A	ENST00000382902.1	-	3	485	c.393C>T	c.(391-393)tcC>tcT	p.S131S	OTUD7A_ENST00000307050.4_Silent_p.S131S			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	131						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TTGCCACGTGGGACCGGGCCA	0.582000													20	18					0	0	0.003330	0	0
CCDC87	55231	broad.mit.edu	37	11	66358272	66358272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:66358272C>A	ENST00000333861.3	-	1	2282	c.2215G>T	c.(2215-2217)Gag>Tag	p.E739*		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	739										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCAAACCACTCTAGTCTCGCC	0.562000													31	76					4.02929e-09	7.45836e-09	0.002096	1	0
SEMA5B	54437	broad.mit.edu	37	3	122667438	122667438	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:122667438G>A	ENST00000195173.4	-	3	546	c.243C>T	c.(241-243)ctC>ctT	p.L81L	SEMA5B_ENST00000451055.2_Silent_p.L135L|SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000357599.3_Silent_p.L81L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	81					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGGAGCTGGAGAGGTGGGACA	0.627000													13	23					0	0	0.001855	0	0
TARSL2	123283	broad.mit.edu	37	15	102194903	102194903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:102194903G>A	ENST00000335968.3	-	19	2507	c.2291C>T	c.(2290-2292)gCt>gTt	p.A764V	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	764					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACGTTTACAGCATTATCTAT	0.358000													10	15					0	0	0.001368	0	0
ZIC1	7545	broad.mit.edu	37	3	147128811	147128811	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:147128811C>T	ENST00000282928.4	+	1	1641	c.912C>T	c.(910-912)tgC>tgT	p.C304C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	304					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCTTTCCCTGCCCCTTCCCTG	0.577000													18	29					0	0	0.006122	0	0
TRMT10C	54931	broad.mit.edu	37	3	101284124	101284124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:101284124G>A	ENST00000309922.6	+	2	653	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		CAAGCTGCTAGAAACCACTGA	0.373000													19	24					0	0	0.001216	0	0
RASGRP3	25780	broad.mit.edu	37	2	33774771	33774771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:33774771G>A	ENST00000403687.3	+	14	2235	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	RASGRP3_ENST00000407811.1_Missense_Mutation_p.E498K|RASGRP3_ENST00000402538.3_Missense_Mutation_p.E499K	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	499					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TAATTTTCAGGAGATGACCTA	0.403000													6	22					0	0	0.001168	0	0
HSPG2	3339	broad.mit.edu	37	1	22169278	22169278	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:22169278G>A	ENST00000374695.3	-	67	8974	c.8895C>T	c.(8893-8895)ctC>ctT	p.L2965L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2965	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCGGGCGGGGAGGCTGCCCC	0.617000													43	15					0	0	0.003610	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074463	106074463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:106074463C>T	ENST00000278071.2	-	3	1799	c.1347G>A	c.(1345-1347)tgG>tgA	p.W449*	ITPRIP_ENST00000358187.2_Nonsense_Mutation_p.W449*|ITPRIP_ENST00000337478.1_Nonsense_Mutation_p.W449*	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	449						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCCCCGCCTTCCAGTCGGCGG	0.637000													20	14					0	0	0.001523	0	0
KLK8	11202	broad.mit.edu	37	19	51503857	51503857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:51503857G>A	ENST00000391806.2	-	3	268	c.188C>T	c.(187-189)cCt>cTt	p.P63L	KLK8_ENST00000593490.1_Intron|KLK8_ENST00000291726.7_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000600767.1_Intron|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron|CTB-147C22.9_ENST00000594512.1_RNA			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	23	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		AGGAGGGAGAGGGTTGGATCG	0.617000													44	34					0	0	0.002522	0	0
MX2	4600	broad.mit.edu	37	21	42754398	42754398	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:42754398C>T	ENST00000330714.3	+	5	823	c.639C>T	c.(637-639)atC>atT	p.I213I	MX2_ENST00000543692.1_Silent_p.I168I	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	213					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GCCTGGAGATCACCTCCCCTG	0.617000													16	33					0	0	0.003163	0	0
KNDC1	85442	broad.mit.edu	37	10	135032453	135032453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:135032453C>T	ENST00000304613.3	+	27	4817	c.4796C>T	c.(4795-4797)tCc>tTc	p.S1599F	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1601F			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1599	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GTGAGGCAGTCCCCTGTGCGT	0.602000													15	6					0	0	0.002450	0	0
METTL25	84190	broad.mit.edu	37	12	82792590	82792590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:82792590C>T	ENST00000248306.3	+	4	617	c.548C>T	c.(547-549)tCc>tTc	p.S183F	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		GACTTGGGTTCCGGTAAAGGC	0.318000													26	6					0	0	0.001512	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28337649	28337649	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:28337649G>A	ENST00000284987.5	-	1	1183	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	354	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTCCTCATGGTCATCTCCCA	0.562000													19	63					0	0	0.000958	0	0
UNC13C	440279	broad.mit.edu	37	15	54306209	54306209	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:54306209C>A	ENST00000545554.1	+	1	1109	c.1109C>A	c.(1108-1110)cCa>cAa	p.P370Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.P370Q|UNC13C_ENST00000260323.11_Missense_Mutation_p.P370Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	370					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)		AGAGACTGCCCAAATGCAAAG	0.388000													17	21					1.15088e-07	2.12481e-07	0.004007	1	0
VWF	7450	broad.mit.edu	37	12	6135213	6135213	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:6135213C>T	ENST00000261405.5	-	23	3222		c.e23-1			NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACACTTTCTCCTTGAGAGACA	0.562000													44	47					0	0	0.003610	0	0
KLHL22	84861	broad.mit.edu	37	22	20819329	20819329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:20819329G>A	ENST00000328879.4	-	4	1084	c.928C>T	c.(928-930)Ccg>Tcg	p.P310S	KLHL22_ENST00000440659.2_Missense_Mutation_p.P167S	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	310					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACAGTGGACGGCGTGGAGTGA	0.637000													38	81					0	0	0.003755	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713007	70713007	+	RNA	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:70713007G>A	ENST00000530196.1	-	0	1511					NR_003951.1																						CTGATGGCATGAATTTGCAGT	0.483000													14	2					0	0	0.002450	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033577	82033577	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:82033577G>A	ENST00000328945.5	-	3	448	c.321C>T	c.(319-321)ctC>ctT	p.L107L	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	107					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GGCAAACCTGGAGGATGTTGT	0.473000													37	48					0	0	0.001485	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535994	69535994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:69535994C>T	ENST00000338206.5	-	1	352	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	115					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CAACACAATTCTTGTAATTGT	0.284000													49	29					0	0	0.003610	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999038	27999038	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:27999038C>T	ENST00000441525.1	-	1	528	c.414G>A	c.(412-414)gcG>gcA	p.A138A		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	138										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACTCCTCCAACGCCTGATCCT	0.577000													11	2					0	0	0.001368	0	0
AICDA	57379	broad.mit.edu	37	12	8757938	8757938	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:8757938C>T	ENST00000229335.6	-	3	403	c.300G>A	c.(298-300)ggG>ggA	p.G100G	AICDA_ENST00000537228.1_Silent_p.G100G	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	100					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGTTGGGGTTCCCTCGCAGAA	0.672000													21	22					0	0	0.001882	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542879	182542879	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:182542879A>G	ENST00000295108.3	-	2	1166	c.709T>C	c.(709-711)Tcc>Ccc	p.S237P	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	237					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AAGACATGGGAGCTGTCCATG	0.632000											OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	61	204					0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124380647	124380647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:124380647C>T	ENST00000338354.3	+	41	5078	c.4972C>T	c.(4972-4974)Cga>Tga	p.R1658*	DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R1030*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1648*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1648*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1658*|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R1030*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1658	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCCTGTATCGAGGCTCCTG	0.592000													86	108					0	0	0.003610	0	0
ITFG2	55846	broad.mit.edu	37	12	2927111	2927111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:2927111G>A	ENST00000228799.2	+	3	368	c.229G>A	c.(229-231)Gga>Aga	p.G77R	ITFG2_ENST00000419778.2_Intron|ITFG2_ENST00000542548.1_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	77										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTGTAATAAAGGAAAGGTAAG	0.483000													33	38					0	0	0.001287	0	0
CCDC18	343099	broad.mit.edu	37	1	93646171	93646171	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:93646171G>A	ENST00000557479.1	+	1	252	c.84G>A	c.(82-84)gcG>gcA	p.A28A	TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GCTCGGGCGCGCTCGCCGACC	0.721000													6	35					0	0	0.001168	0	0
GPR157	80045	broad.mit.edu	37	1	9171506	9171506	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:9171506C>T	ENST00000377411.4	-	2	568	c.426G>A	c.(424-426)ctG>ctA	p.L142L	GPR157_ENST00000414642.2_Silent_p.L142L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	142						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CAATCTTCTTCAGGGCGACGG	0.622000											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	42					0	0	0.000978	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363655	42363655	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:42363655C>T	ENST00000290472.3	-	16	1762	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	556	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCTCCTGGTCTTGTCCTTGA	0.562000													27	31					0	0	0.004656	0	0
CRB1	23418	broad.mit.edu	37	1	197407716	197407716	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:197407716G>A	ENST00000367397.1	+	6	2790	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	CRB1_ENST00000544212.1_Silent_p.K744K|CRB1_ENST00000367400.3_Silent_p.K1263K|CRB1_ENST00000535699.1_Silent_p.K1239K|CRB1_ENST00000538660.1_Silent_p.K727K|CRB1_ENST00000367399.2_Silent_p.K1151K|RP11-75C23.1_ENST00000422250.1_RNA			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1263	Laminin G-like 1.				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						GGAATGAGAAGACAAATCTCA	0.428000													11	23					0	0	0.000673	0	0
CMTR1	23070	broad.mit.edu	37	6	37414140	37414140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:37414140C>T	ENST00000373451.4	+	4	523	c.359C>T	c.(358-360)tCc>tTc	p.S120F		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		120	G-patch.				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						GTTGAGGCTTCCAGTCAGAAA	0.527000													128	84					0	0	0.003610	0	0
FER	2241	broad.mit.edu	37	5	108516559	108516559	+	Silent	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:108516559G>A	ENST00000281092.4	+	18	2544	c.2160G>A	c.(2158-2160)aaG>aaA	p.K720K	FER_ENST00000438717.2_Silent_p.K545K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	720	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTGGCTTAAAGCAGATTCCCA	0.373000													31	7					0	0	0.002096	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703678	103703678	+	Silent	SNP	T	T	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:103703678T>C	ENST00000245312.3	-	4	1286	c.690A>G	c.(688-690)ggA>ggG	p.G230G		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	230					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAATATTGTTCCTATAATCC	0.488000													13	17					0	0	0.003163	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795942	15795942	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:15795942C>T	ENST00000550308.1	+	9	1430	c.1050C>T	c.(1048-1050)taC>taT	p.Y350Y	CYP4F12_ENST00000324632.9_Silent_p.Y350Y	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACCCAGAATACCAGGAGCGCT	0.587000													30	37					0	0	0.002445	0	0
CSN3	1448	broad.mit.edu	37	4	71114848	71114848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:71114848C>T	ENST00000304954.3	+	4	307	c.221C>T	c.(220-222)cCa>cTa	p.P74L		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	74						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATTAATAATCCATATGTGCCT	0.433000													20	15					0	0	0.000958	0	0
C6	729	broad.mit.edu	37	5	41181543	41181543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:41181543G>A	ENST00000263413.3	-	7	1109	c.845C>T	c.(844-846)cCa>cTa	p.P282L	C6_ENST00000337836.5_Missense_Mutation_p.P282L|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	282	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATAAAAAATTGGTACACTGAA	0.373000													24	44					0	0	0.003330	0	0
LILRB4	11006	broad.mit.edu	37	19	55175310	55175310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:55175310G>A	ENST00000391736.1	+	5	484	c.169G>A	c.(169-171)Gag>Aag	p.E57K	LILRB4_ENST00000391734.3_Missense_Mutation_p.E57K|LILRB4_ENST00000391733.3_Missense_Mutation_p.E57K|LILRB4_ENST00000430952.2_Missense_Mutation_p.E57K|LILRB4_ENST00000270452.2_Missense_Mutation_p.E57K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	57	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGAGGCTCGGGAGTACCGTCT	0.602000													43	44					0	0	0.001951	0	0
SPATA25	128497	broad.mit.edu	37	20	44516183	44516183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:44516183G>A	ENST00000372519.3	-	1	91	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	16						integral to membrane											ACCTTGGCCGGAAGGCAGAGG	0.612000													14	25					0	0	0.001855	0	0
NPHS2	7827	broad.mit.edu	37	1	179523625	179523625	+	Silent	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:179523625C>T	ENST00000367615.4	-	6	848	c.780G>A	c.(778-780)gtG>gtA	p.V260V	NPHS2_ENST00000367616.4_Silent_p.V192V|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	260					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTATTCTCTCCACTTTGATTC	0.378000													13	52					0	0	0.002450	0	0
UNC13C	440279	broad.mit.edu	37	15	54306208	54306208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:54306208C>T	ENST00000545554.1	+	1	1108	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	UNC13C_ENST00000537900.1_Missense_Mutation_p.P370S|UNC13C_ENST00000260323.11_Missense_Mutation_p.P370S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	370					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)		GAGAGACTGCCCAAATGCAAA	0.393000													17	22					0	0	0.004007	0	0
OR51I1	390063	broad.mit.edu	37	11	5462531	5462531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:5462531C>T	ENST00000380211.1	-	1	213	c.214G>A	c.(214-216)Gat>Aat	p.D72N	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCCCAGATCATTGAGAGCG	0.463000													20	17					0	0	0.000958	0	0
RP1	6101	broad.mit.edu	37	8	55540928	55540928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:55540928G>A	ENST00000220676.1	+	4	4634	c.4486G>A	c.(4486-4488)Gaa>Aaa	p.E1496K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1496					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTAATCCAAGAAGAGGTAGA	0.313000													29	34					0	0	0.001786	0	0
CELA3B	23436	broad.mit.edu	37	1	22304888	22304888	+	Missense_Mutation	SNP	C	C	T	rs140120229		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:22304888C>T	ENST00000337107.6	+	2	89	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	24					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ACCTTCCTCTCGCCCTTCCAG	0.622000													11	61					0	0	0.000978	0	0
MX1	4599	broad.mit.edu	37	21	42811650	42811650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:42811650G>A	ENST00000398600.2	+	10	1491	c.466G>A	c.(466-468)Gga>Aga	p.G156R	MX1_ENST00000288383.6_Missense_Mutation_p.G133R|MX1_ENST00000455164.2_Missense_Mutation_p.G156R|MX1_ENST00000398598.3_Missense_Mutation_p.G156R	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	156					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGAAGGAATGGGAATCAGTCA	0.493000													22	54					0	0	0.002780	0	0
SDC3	9672	broad.mit.edu	37	1	31347287	31347287	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:31347287delG	ENST00000336798.7	-	2	2337	c.845delC	c.(844-846)ggfs	p.A283fs	SDC3_ENST00000339394.6_Frame_Shift_Del_p.A341fs			O75056	SDC3_HUMAN	syndecan 3	341	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTTGGCCGCAGCCCCTCC	0.647													15	66	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32479677	32479677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:32479677delC	ENST00000327300.7	+	1	248	c.81delC	c.(79-81)cafs	p.H27fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.H27fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	27					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCGGTGCCCACCCCTCGGTGC	0.771													2	4	---	---	---	---					
ELAVL4	1996	broad.mit.edu	37	1	50666700	50666700	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:50666700delC	ENST00000371824.1	+	7	1208	c.951delC	c.(949-951)gafs	p.D317fs	ELAVL4_ENST00000371823.4_Frame_Shift_Del_p.D331fs|ELAVL4_ENST00000371821.1_Frame_Shift_Del_p.D336fs|ELAVL4_ENST00000357083.4_Frame_Shift_Del_p.D334fs|ELAVL4_ENST00000371819.1_Frame_Shift_Del_p.D322fs|ELAVL4_ENST00000448907.2_Frame_Shift_Del_p.D320fs|ELAVL4_ENST00000371827.1_Frame_Shift_Del_p.D317fs			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	331	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGATTCGTGACTTCAACACCA	0.547													51	26	---	---	---	---					
ASPM	259266	broad.mit.edu	37	1	197074279	197074279	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:197074279delG	ENST00000367409.4	-	18	4358	c.4102delC	c.(4102-4104)tgfs	p.L1368fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1368	IQ 1.				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						TTCAATTTCAGAAATCTTTGT	0.308													29	10	---	---	---	---					
CTNNB1	1499	broad.mit.edu	37	3	41266134	41266136	+	In_Frame_Del	DEL	CTT	CTT	-	rs121913407		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:41266134_41266136delCTT	ENST00000349496.5	+	3	411_413	c.131_133delCTT	c.(130-135)cct>c	p.PS44del	CTNNB1_ENST00000396185.3_In_Frame_Del_p.PS44del|CTNNB1_ENST00000396183.3_In_Frame_Del_p.PS44del|CTNNB1_ENST00000405570.1_In_Frame_Del_p.PS44del|CTNNB1_ENST00000453024.1_In_Frame_Del_p.PS37del	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	44					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.P44L(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_S45insAP(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.P44del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACCACAGCTCCTTCTCTGAGTGG	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				18	20	---	---	---	---					
TSGA13	114960	broad.mit.edu	37	7	130357651	130357652	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:130357651_130357652insT	ENST00000456951.1	-	7	1303_1304	c.452_453insA	c.(451-453)attfs	p.I151fs	TSGA13_ENST00000356588.3_Frame_Shift_Ins_p.I151fs			Q96PP4	TSG13_HUMAN	testis specific, 13	151										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TAGATCTTAACTTTTTTTTCTG	0.450													7	1362	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3																						GTGATTAGACCAACCCTTCCCAT	0.537													7	92	---	---	---	---					
ADAM32	203102	broad.mit.edu	37	8	39103631	39103641	+	Frame_Shift_Del	DEL	AAGGATAATTA	AAGGATAATTA	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:39103631_39103641delAAGGATAATTA	ENST00000379907.4	+	17	1975_1985	c.1848_1858delAAGGATAATTA	c.(1846-1860)tcagfs	p.SRIIK616fs	ADAM32_ENST00000519315.1_Frame_Shift_Del_p.SRIIK510fs|ADAM32_ENST00000437682.2_Frame_Shift_Del_p.SRIIK517fs	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	616					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTGTAGAATCAAGGATAATTAAGGCTTCAGC	0.360													17	73	---	---	---	---					
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:29450110delA	ENST00000182377.4	+	4	790	c.522delA	c.(520-522)ccfs	p.P174fs	FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388													7	172	---	---	---	---					
PLXNC1	10154	broad.mit.edu	37	12	94694762	94694763	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:94694762_94694763insAC	ENST00000258526.4	+	28	4564_4565	c.4315_4316insAC	c.(4315-4317)cggfs	p.R1439fs	PLXNC1_ENST00000547057.1_Frame_Shift_Ins_p.R486fs|PLXNC1_ENST00000545312.1_Frame_Shift_Ins_p.R178fs	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1439					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACCACATATAGACGGCTGTTTG	0.441													80	12	---	---	---	---					
LIG4	3981	broad.mit.edu	37	13	108862892	108862893	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:108862892_108862893delAA	ENST00000356922.4	-	2	996_997	c.724_725delTT	c.(724-726)afs	p.L242fs	LIG4_ENST00000405925.1_Frame_Shift_Del_p.L242fs|LIG4_ENST00000442234.1_Frame_Shift_Del_p.L242fs	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	242					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TGCAGAAAATAAAGTGATAGAA	0.371								Non-homologous end-joining					10	30	---	---	---	---