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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C11orf70	85016	broad.mit.edu	37	11	101953919	101953919	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:101953919G>C	uc001pgp.3	+	6	826	c.793G>C	c.(793-795)Gac>Cac	p.D265H	C11orf70_uc001pgq.3_Missense_Mutation_p.D227H	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	265										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TGGTGTGGGAGACATGTCTTA	0.313000														70			26		0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52876394	52876394	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:52876394G>T	uc002pzc.3	+	1	92	c.43G>T	c.(43-45)Gaa>Taa	p.E15*	ZNF880_uc002pzb.4_Non-coding_Transcript|ZNF880_uc021uyu.1_Nonsense_Mutation_p.E15*	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	15	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CGTGGCCATAGAATTCCCTCA	0.463000														130			24		9.80776e-20	1.04434e-19	1	1	0
CIC	23152	broad.mit.edu	37	19	42797210	42797211	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:42797210_42797211CC>TT	uc002otf.1	+	14	3612_3613	c.3572_3573CC>TT	c.(3571-3573)tcc>tTT	p.S1191F		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1191	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCGTGGGGTCCTTTGAGGCAG	0.678000			"""Mis, F, S"""		oligodendroglioma									23			24		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35748500	35748500	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:35748500G>A	uc011axy.2	+	8	933	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	ARPP21_uc003cga.3_Missense_Mutation_p.E241K|ARPP21_uc003cgb.3_Missense_Mutation_p.E241K|ARPP21_uc003cgf.3_Missense_Mutation_p.E77K	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	241						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTTAAAAGATGAAAAAGGTGA	0.348000														63			56		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228528463	228528463	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:228528463C>T	uc009xez.1	+	71	17615	c.17571C>T	c.(17569-17571)tgC>tgT	p.C5857C	OBSCN_uc001hsn.3_Silent_p.C5857C|OBSCN_uc001hsr.1_Silent_p.C486C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5857	DH.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				GACAGAACTGCGCGCTGCTGG	0.637000														22			6		0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105147410	105147410	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:105147410G>A	uc001kwv.3	+	9	2163	c.2140G>A	c.(2140-2142)Gtc>Atc	p.V714I	TAF5_uc010qqq.2_Missense_Mutation_p.V659I	NM_006951	NP_008882	Q15542	TAF5_HUMAN	Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.	714					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CACTGATACAGTCTGTTCACT	0.403000														71			91		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70934991	70934991	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:70934991G>A	uc002ezr.3	-	52	9112	c.8961C>T	c.(8959-8961)acC>acT	p.T2987T		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2988										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)				CAGGGGGGATGGTCCCCTGCA	0.562000														190			29		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522426	144522426	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:144522426G>A	uc003yyd.2	-	10	2629	c.2600C>T	c.(2599-2601)cCc>cTc	p.P867L		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	867					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGAGGATGAGGGAGAGGCTGA	0.677000														12			6		0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140374045	140374045	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:140374045C>T	uc003vvy.1	+	0	1093	c.915C>T	c.(913-915)ctC>ctT	p.L305L	ADCK2_uc003vvz.3_Silent_p.L305L	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	305	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCACCAACCTCATCTCCGTGG	0.557000														102			24		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166896038	166896038	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:166896038G>A	uc002udo.4	-	15	2711	c.2484C>T	c.(2482-2484)ttC>ttT	p.F828F	SCN1A_uc010fpk.3_Silent_p.F800F|SCN1A_uc021vsb.1_Silent_p.F817F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	828						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)	AGCCTTCTTGGAAATAATAGT	0.373000														24			18		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18738549	18738549	+	Splice_Site	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:18738549T>C	uc009yht.2	-	10	1164	c.974_splice	c.e10-1	p.D325_splice	IGSF22_uc001mpa.2_Splice_Site	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	325										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GTGGCTCATCTGCAGCAAACA	0.562000														44			20		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153225451	153225451	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:153225451G>T	uc004fjp.3	-	7	1774	c.1246C>A	c.(1246-1248)Ccg>Acg	p.P416T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	416					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGGACCGGATTGGGTGTA	0.637000														34			72		5.72124e-26	6.1204e-26	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32090360	32090361	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:32090360_32090361CC>TT	uc003jhl.3	+	19	7194_7195	c.6806_6807CC>TT	c.(6805-6807)ccc>cTT	p.P2269L	PDZD2_uc003jhm.3_Missense_Mutation_p.P2269L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2269					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGTGGTCTTCCCAGCCTGGCTA	0.574000														138			82		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482523	20482523	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:20482523G>A	uc010tky.2	-	0	830	c.830C>T	c.(829-831)aCc>aTc	p.T277I		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGTAAAAATGGTATAAAACAC	0.428000														94			24		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872999	55872999	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:55872999G>A	uc010riy.2	+	0	481	c.481G>A	c.(481-483)Gtt>Att	p.V161I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTCAACGTGGTTTCCATGAG	0.428000										HNSCC(53;0.14)				139			43		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806988	15806988	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:15806988G>A	uc002nbl.3	+	10	1386	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											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)					CTGCCTCATCGATATTATAGG	0.572000														137			33		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50290580	50290580	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:50290580G>A	uc003cyq.1	+	3	549	c.428G>A	c.(427-429)cGc>cAc	p.R143H	GNAI2_uc003cyo.1_Missense_Mutation_p.R127H|GNAI2_uc003cyp.1_Missense_Mutation_p.R127H|GNAI2_uc010hlg.1_Missense_Mutation_p.R62H|GNAI2_uc011bdn.2_Missense_Mutation_p.R106H|GNAI2_uc003cyr.1_Missense_Mutation_p.R62H	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	143					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R143H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TGCTTTGGCCGCTCAAGGGAA	0.657000														342			5		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238692	126238692	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:126238692G>A	uc003ifj.4	+	0	1126	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	376	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTGGGCACCGTGGTGGCTCT	0.597000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			13		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073097	15073097	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:15073097A>G	uc002naa.1	-	4	659	c.652T>C	c.(652-654)Tct>Cct	p.S218P	SLC1A6_uc010dzu.1_Missense_Mutation_p.S218P|SLC1A6_uc010xod.1_Missense_Mutation_p.S154P|SLC1A6_uc002nab.3_Missense_Mutation_p.S218P|SLC1A6_uc002nac.3_Missense_Mutation_p.S218P	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	218					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCCGGCTCAGACCCGTTCTCT	0.557000														114			26		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950624	198950624	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:198950624C>T	uc010fsp.3	+	1	2781	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C	PLCL1_uc002uuv.4_Missense_Mutation_p.R716C	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	795	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCCATGATCCGTTTTGTTGT	0.398000														89			69		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399356	179399356	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:179399356T>C	uc021vsy.1	-	306	94507	c.94282A>G	c.(94282-94284)Aca>Gca	p.T31428A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T25123A|TTN_uc021vta.1_Missense_Mutation_p.T25056A|TTN_uc021vtb.1_Missense_Mutation_p.T24931A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32355	Fibronectin type-III 129.						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)			CACATGTCTGTGGCTGTGCTG	0.468000														69			19		0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32842193	32842193	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:32842193G>A	uc001bvi.3	-	8	924	c.877C>T	c.(877-879)Cca>Tca	p.P293S	BSDC1_uc001bvh.4_Missense_Mutation_p.P276S|BSDC1_uc010ohg.2_Missense_Mutation_p.P293S|BSDC1_uc010ohh.2_Missense_Mutation_p.P220S|BSDC1_uc010ohi.2_Missense_Mutation_p.P181S|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Missense_Mutation_p.P172S			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	276							protein binding	p.P293S(3)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCTCTGATGGAGTCACCTCT	0.567000														122			35		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39882119	39882119	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:39882119G>A	uc002hxm.1	-	10	1566	c.1554C>T	c.(1552-1554)tcC>tcT	p.S518S	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.S466S|HAP1_uc002hxo.1_Silent_p.S449S|HAP1_uc002hxp.1_Silent_p.S441S	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	518	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCTTAGGCTGGATGTGTCCC	0.557000														82			21		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46600938	46600938	+	Splice_Site	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:46600938G>A	uc009zkj.1	-	8	1248	c.563_splice	c.e8+1	p.S188_splice	SLC38A1_uc001rpb.3_Splice_Site_p.S188_splice|SLC38A1_uc001rpc.3_Splice_Site_p.S188_splice|SLC38A1_uc001rpd.3_Splice_Site_p.S188_splice|SLC38A1_uc001rpe.3_Splice_Site_p.S188_splice|SLC38A1_uc010slh.2_Splice_Site_p.S161_splice|SLC38A1_uc001rpa.3_Splice_Site_p.S188_splice	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	188					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TATAACTTACGAAAATGTCTC	0.313000														61			3		0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45579557	45579557	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:45579557C>T	uc002pao.3	-	0	132	c.75G>A	c.(73-75)atG>atA	p.M25I	GEMIN7_uc002pap.1_5'Flank|GEMIN7_uc002paq.1_5'Flank|GEMIN7_uc002par.1_5'Flank	NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	25					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E24K(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCTGCATTTCCATCTCGTCGT	0.721000														55			15		0	0	1	0	0
SP5	389058	broad.mit.edu	37	2	171572790	171572790	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:171572790C>A	uc002uge.3	+	1	239	c.73C>A	c.(73-75)Ccg>Acg	p.P25T	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Homo sapiens Sp5 transcription factor (SP5), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CAGCGCCTCCCCGGACCTGGG	0.741000														86			14		0.00316338	0.00319814	1	1	0
C1orf127	148345	broad.mit.edu	37	1	11008327	11008327	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:11008327A>C	uc010oao.2	-	11	1865	c.1865T>G	c.(1864-1866)gTg>gGg	p.V622G	C1orf127_uc001ars.2_Missense_Mutation_p.V457G|C1orf127_uc001arr.2_Missense_Mutation_p.V465G	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	473										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGCCTCTCCACCTCCGTTCC	0.662000														98			45		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50708721	50708721	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:50708721C>A	uc001jhs.4	-	6	1702	c.1548G>T	c.(1546-1548)agG>agT	p.R516S	ERCC6_uc010qgr.2_5'UTR|ERCC6_uc001jhr.4_5'UTR	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	516					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCACAGCCACCTAACACCTG	0.453000								Direct reversal of damage;Nucleotide excision repair (NER)						56			18		0.000132079	0.000133824	1	1	0
LMTK2	22853	broad.mit.edu	37	7	97823258	97823258	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:97823258G>C	uc003upd.2	+	10	3774	c.3481G>C	c.(3481-3483)Gat>Cat	p.D1161H		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1161					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGCCAGCCAGATGAAAGTTG	0.587000														90			18		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141310678	141310678	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:141310678C>T	uc003yvh.2	-	10	1967	c.1952G>A	c.(1951-1953)cGg>cAg	p.R651Q	TRAPPC9_uc003yvj.2_Missense_Mutation_p.R553Q|TRAPPC9_uc003yvi.1_Missense_Mutation_p.R544Q	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	553					cell differentiation	Golgi apparatus|endoplasmic reticulum		p.R651Q(4)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTGTGTGGCCGGAGGCTAGC	0.438000														96			28		0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73750930	73750930	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:73750930G>C	uc001xny.1	-	9	1128	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Intron|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Missense_Mutation_p.Q270E|NUMB_uc001xnz.1_Missense_Mutation_p.Q259E|NUMB_uc001xob.1_Missense_Mutation_p.Q259E|NUMB_uc001xod.1_Missense_Mutation_p.Q270E|NUMB_uc001xoc.1_Missense_Mutation_p.Q270E|NUMB_uc010ars.1_Missense_Mutation_p.Q259E|NUMB_uc001xof.1_Missense_Mutation_p.Q234E|NUMB_uc010ttz.1_Missense_Mutation_p.Q16E	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	270					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)		CGAGCAAGCTGTTCAATTGGA	0.532000														115			32		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766002	19766002	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:19766002G>A	uc002nnh.4	-	11	1609	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Silent_p.V409V	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	527					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCACACCTCGACCTTGCCAG	0.642000														55			15		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038834	75038834	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:75038834C>A	uc001dgg.3	-	13	2779	c.2560G>T	c.(2560-2562)Ggg>Tgg	p.G854W		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	854	Glu-rich.							p.G854W(2)		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						TCTGACCCCCCTTCACCCAGC	0.527000														116			40		2.87052e-16	3.02853e-16	1	1	0
EP400	57634	broad.mit.edu	37	12	132551986	132551986	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:132551986C>T	uc001ujn.3	+	49	8981	c.8829C>T	c.(8827-8829)gcC>gcT	p.A2943A	EP400_uc021rgq.1_Silent_p.A2942A|EP400_uc001ujm.3_Silent_p.A2862A|EP400_uc001ujp.3_Silent_p.A153A	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2979					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGCAGAAGGCCATCCAGCCCC	0.647000														135			38		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079682	31079682	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:31079682G>A	uc003nsk.1	-	1	454	c.454C>T	c.(454-456)Cct>Tct	p.P152S	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	152										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GACTCCCCAGGCAAAGGGCCA	0.642000														64			23		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106067264	106067264	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:106067264C>T	uc001yrw.1	-	2	649	c.637G>A	c.(637-639)Ggt>Agt	p.G213S	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.G160S|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		AAGGTGTGACCTTGATAGGTG	0.632000														22			15		0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120718393	120718393	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:120718393C>T	uc002tmf.1	+	22	2915	c.2144C>T	c.(2143-2145)cCt>cTt	p.P715L	PTPN4_uc010flj.1_Missense_Mutation_p.P428L|PTPN4_uc010yyr.1_Missense_Mutation_p.P348L	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	715	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATGGAAATTCCTTCTTCCAGC	0.358000														41			30		0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14001068	14001068	+	Silent	SNP	A	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:14001068A>G	uc002mxl.1	-	5	660	c.601T>C	c.(601-603)Ttg>Ctg	p.L201L	C19orf57_uc002mxk.1_Silent_p.L83L	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	201					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAGGCGGACAACCCCGTCCCC	0.642000														117			43		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53232906	53232906	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:53232906G>A	uc001sbc.1	-	8	1618	c.1554C>T	c.(1552-1554)atC>atT	p.I518I		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	518	Tail.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTCAGTAGGTGATGGATGTCT	0.592000														49			30		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432904	111432904	+	Silent	SNP	G	A	A	rs61755448		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:111432904G>A	uc003dya.3	+	2	1365	c.795G>A	c.(793-795)gcG>gcA	p.A265A	PLCXD2_uc003dxz.3_Silent_p.A265A	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	265					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCTCCCAAGCGATCCTCACCC	0.572000														60			51		0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27141292	27141292	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:27141292C>T	uc001mre.1	+	6	1104	c.736C>T	c.(736-738)Cct>Tct	p.P246S	BBOX1_uc009yih.1_Missense_Mutation_p.P246S|BBOX1_uc001mrg.1_Missense_Mutation_p.P246S|BBOX1_uc021qfd.1_Missense_Mutation_p.P246S	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	246					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GAAAAATAATCCTCAGGCATT	0.358000														24			14		0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600196	3600196	+	Silent	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:3600196A>C	uc003jde.3	+	1	1186	c.1134A>C	c.(1132-1134)gcA>gcC	p.A378A		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	378						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A378T(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAACAGCGCATTCCTCGCAC	0.682000														40			34		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164507014	164507014	+	Missense_Mutation	SNP	G	A	A	rs146337383		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:164507014G>A	uc003iqs.2	-	5	492	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	MARCH1_uc003iqr.2_Missense_Mutation_p.R87C	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	104					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGACAAAGCGCAGTGTCCCA	0.527000														36			22		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672566	186672566	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:186672566T>A	uc002upl.3	+	16	18800	c.18800T>A	c.(18799-18801)aTa>aAa	p.I6267K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTTATAACATAATAGAAGAA	0.308000														40			13		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39543653	39543653	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:39543653G>A	uc001wup.1	-	8	1292	c.1069C>T	c.(1069-1071)Ctc>Ttc	p.L357F	SEC23A_uc010tqa.1_Missense_Mutation_p.L219F|SEC23A_uc010tqb.1_Missense_Mutation_p.L328F|SEC23A_uc010tqc.1_Missense_Mutation_p.L219F	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	357					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATCTCCAGGAGACCTGTCTGA	0.348000														162			37		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69094622	69094622	+	Silent	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:69094622T>G	uc001suf.3	+	6	784	c.669T>G	c.(667-669)gcT>gcG	p.A223A	NUP107_uc001sug.3_Silent_p.A70A|NUP107_uc010stj.2_Silent_p.A194A	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	223					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCTGCTGGCTTCTTTGTATA	0.388000														65			18		0	0	1	0	0
FAHD2B	151313	broad.mit.edu	37	2	97751483	97751483	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:97751483G>A	uc002sxm.3	-	4	789	c.638C>T	c.(637-639)aCc>aTc	p.T213I		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2B (FAHD2B), mRNA.	213							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						AGGGCAGAAGGTGTCGAAGGT	0.592000														71			43		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100493830	100493830	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:100493830C>T	uc003yiv.3	+	24	3781	c.3670C>T	c.(3670-3672)Cag>Tag	p.Q1224*	VPS13B_uc003yiw.3_Nonsense_Mutation_p.Q1224*|VPS13B_uc003yiu.1_Nonsense_Mutation_p.Q1224*|VPS13B_uc003yix.1_Nonsense_Mutation_p.Q694*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1224					protein transport			p.V1223I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTCAGGTCCAGCTCTTCTA	0.363000														67			66		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661859	139661859	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:139661859C>T	uc011kqv.2	+	9	1337	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	TBXAS1_uc003vvh.3_Missense_Mutation_p.P322S|TBXAS1_uc010lne.3_Missense_Mutation_p.P254S|TBXAS1_uc011kqu.2_Missense_Mutation_p.P273S|TBXAS1_uc003vvi.3_Missense_Mutation_p.P322S|TBXAS1_uc011kqw.2_Missense_Mutation_p.P302S|TBXAS1_uc003vvj.3_Missense_Mutation_p.P322S	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	321					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCAGCCCAGCCCTATGGCCAG	0.537000														39			49		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75115083	75115083	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:75115083T>C	uc002snd.3	+	15	4199	c.2273T>C	c.(2272-2274)cTc>cCc	p.L758P		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	758	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CGTAACATTCTCATCGATTTC	0.478000														113			29		0	0	1	0	0
DM119532	0	broad.mit.edu	37	11	64658877	64658877	+	Splice_Site	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:64658877C>T	uc021qla.1	+	1		c.1_splice	c.e1-1		AB429224_uc009ypx.3_Intron|MIR192_uc010rnr.1_5'Flank|MIR194-2_uc010rns.1_Non-coding_Transcript					Targeting Cells With Altered miRNA Expression.																		GTGGGCACTTCCACATGGAGT	0.647000														10			5		0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113088848	113088848	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:113088848C>T	uc002thq.1	+	11	2747	c.2353C>T	c.(2353-2355)Ccc>Tcc	p.P785S		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	785							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TGCGTGGGATCCCAGGAAATT	0.473000														79			25		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89391084	89391084	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:89391084C>T	uc003dqy.3	+	4	1375	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	EPHA3_uc003dqx.1_Missense_Mutation_p.P384S|EPHA3_uc021xbf.1_Missense_Mutation_p.P384S	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	384	Fibronectin type-III 1.					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)		CCGCTTCCTCCCTCGACAGTT	0.473000										TSP Lung(6;0.00050)				96			27		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54224806	54224806	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:54224806G>A	uc004dtc.2	-	23	5793	c.5354C>T	c.(5353-5355)cCa>cTa	p.P1785L	WNK3_uc004dtd.2_Missense_Mutation_p.P1728L	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1728					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGATGAAGTTGGAAATGCCTG	0.443000														17			13		0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80990644	80990644	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:80990644G>A	uc003hlz.4	-	2	1005	c.242C>T	c.(241-243)tCt>tTt	p.S81F	ANTXR2_uc003hly.4_Missense_Mutation_p.S81F|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.S81F	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	81	VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CACAATGAAAGATAATCTCAT	0.323000									Juvenile Hyaline Fibromatosis					11			4		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49152671	49152671	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:49152671G>A	uc003cwd.2	-	11	2022	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	USP19_uc003cwa.3_Missense_Mutation_p.S376F|USP19_uc003cwb.3_Missense_Mutation_p.S654F|USP19_uc003cvz.4_Missense_Mutation_p.S671F|USP19_uc011bcg.2_Missense_Mutation_p.S659F|USP19_uc003cwc.2_Missense_Mutation_p.S326F|USP19_uc011bch.2_Missense_Mutation_p.S669F	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	568					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCAACTTGGAAGGCTGGAA	0.617000														42			7		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75681480	75681480	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:75681480C>T	uc010oqz.1	-	17	1870	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	SLC44A5_uc001dgt.2_Missense_Mutation_p.E563K|SLC44A5_uc001dgs.2_Missense_Mutation_p.E521K|SLC44A5_uc001dgr.2_Missense_Mutation_p.E521K|SLC44A5_uc001dgu.3_Missense_Mutation_p.E563K|SLC44A5_uc010ora.2_Missense_Mutation_p.E557K|SLC44A5_uc010orb.2_Missense_Mutation_p.E433K	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	563						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATTGCATTTTCCAAACACCAG	0.338000														31			8		0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879935	39879935	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:39879935C>T	uc009vvt.1	+	0	4760	c.3998C>T	c.(3997-3999)tCc>tTc	p.S1333F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	1197										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGAAGTTTCCCCCATTGGT	0.592000														32			13		0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42922612	42922612	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:42922612C>T	uc001chl.3	+	0	440	c.376C>T	c.(376-378)Ccg>Tcg	p.P126S	ZMYND12_uc001chj.3_5'Flank|ZMYND12_uc010ojt.2_5'Flank|PPCS_uc001chk.3_Intron	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA.	126					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	p.P126L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAATGCACTTCCGGGTTTTGC	0.622000														81			23		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641084	57641084	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:57641084G>A	uc002qny.3	+	3	1397	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K	USP29_uc021vci.1_Silent_p.K347K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	347					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)		CAAAGATCAAGAGAGAATTAC	0.383000														88			21		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735407	164735407	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:164735407G>A	uc003fei.3	-	30	3751	c.3688C>T	c.(3688-3690)Cgt>Tgt	p.R1230C		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1230	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	TATCCATAACGACATAATTGG	0.353000										HNSCC(35;0.089)				45			24		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116594303	116594303	+	Silent	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:116594303A>C	uc002tle.3	+	23	2196	c.2175A>C	c.(2173-2175)atA>atC	p.I725I	DPP10_uc002tla.2_Silent_p.I721I|DPP10_uc002tlb.2_Silent_p.I671I|DPP10_uc002tlc.2_Silent_p.I717I|DPP10_uc002tlf.2_Silent_p.I714I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	721					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATATTAATAATTCATGGAA	0.348000														120			35		0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12825642	12825642	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:12825642G>A	uc002mup.3	-	7	1621	c.1159C>T	c.(1159-1161)Ctg>Ttg	p.L387L	TNPO2_uc002muq.3_Silent_p.L295L|TNPO2_uc002muo.3_Silent_p.L295L|TNPO2_uc002mur.3_Silent_p.L295L	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	295					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACTGGACCAGATGGGAGGCC	0.607000														100			11		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176955	193176955	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:193176955A>C	uc003ftd.3	-	13	1697	c.1589T>G	c.(1588-1590)aTg>aGg	p.M530R	ATP13A4_uc003fte.1_Missense_Mutation_p.M530R|ATP13A4_uc011bsr.1_Missense_Mutation_p.M1R|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Missense_Mutation_p.M236R	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	530					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)		GCAGCTGGCCATCGCTGCACA	0.537000														131			32		0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910508	184910508	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:184910508G>T	uc003fpf.3	-	6	1754	c.1678C>A	c.(1678-1680)Cca>Aca	p.P560T	EHHADH_uc011brs.2_Missense_Mutation_p.P464T	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	560	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCAGGAATTGGGCAGTACCTC	0.478000														63			34		1.22384e-17	1.29417e-17	1	1	0
DNAI1	27019	broad.mit.edu	37	9	34512373	34512373	+	Silent	SNP	G	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:34512373G>C	uc003zum.3	+	14	1633	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	480					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGCTGAAGGTGGAAGGCAGCA	0.607000									Kartagener syndrome					60			22		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26584708	26584708	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:26584708C>T	uc001mqw.3	-	3	1153	c.880G>A	c.(880-882)Gat>Aat	p.D294N	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.D267N|MUC15_uc001mqy.3_Intron	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	267						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GAAAATGAATCCGTTTTCCTT	0.398000														76			29		0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000019	14000019	+	Silent	SNP	G	A	A	rs141570550	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:14000019G>A	uc002mxl.1	-	5	1709	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	C19orf57_uc002mxk.1_Silent_p.F432F	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	550					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGGGGCTTCGAAGTCAGAGG	0.607000														42			10		0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96011259	96011259	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:96011259C>A	uc011cuo.1	+	1	131	c.47C>A	c.(46-48)aCc>aAc	p.T16N	CAST_uc003klt.3_5'UTR|CAST_uc021ybr.1_Missense_Mutation_p.T31N|CAST_uc003klx.3_Missense_Mutation_p.T31N	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	84							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AGTGAAAAAACCAGTGAATCG	0.348000														49			14		3.41278e-10	3.51204e-10	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78796463	78796463	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:78796463A>C	uc004akc.2	+	15	2691	c.2153A>C	c.(2152-2154)aAc>aCc	p.N718T	PCSK5_uc004ajz.3_Missense_Mutation_p.N718T|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_5'UTR	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	718	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAAGAAACCAACAGCTGTGTT	0.453000														92			22		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28609492	28609492	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr18:28609492G>A	uc002kwj.4	-	3	612	c.457C>T	c.(457-459)Cca>Tca	p.P153S	DSC3_uc002kwi.4_Missense_Mutation_p.P153S	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	153	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGAAACAATGGGAAAGGGCCC	0.408000														44			14		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103544382	103544382	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:103544382G>A	uc001dum.3	-	2	638	c.320C>T	c.(319-321)cCa>cTa	p.P107L	COL11A1_uc001dul.3_Missense_Mutation_p.P107L|COL11A1_uc001dun.3_Missense_Mutation_p.P107L|COL11A1_uc009weh.3_Missense_Mutation_p.P107L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	107	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.K106K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTTTTTTTGGTTTTACTGT	0.328000														17			11		0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139265137	139265137	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:139265137G>A	uc003qii.3	-	5	1348	c.769C>T	c.(769-771)Cga>Tga	p.R257*	REPS1_uc003qig.4_Nonsense_Mutation_p.R257*|REPS1_uc011edr.2_Nonsense_Mutation_p.R257*|REPS1_uc003qij.3_Nonsense_Mutation_p.R257*|REPS1_uc003qik.3_Intron	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	257						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GCTACAGTTCGTACTGTTGTC	0.358000														18			23		0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156777007	156777007	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:156777007C>T	uc009wsh.2	-	7	1303	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	SH2D2A_uc001fqc.1_Missense_Mutation_p.R350K|SH2D2A_uc001fqd.2_Missense_Mutation_p.R378K|SH2D2A_uc001fqe.2_Missense_Mutation_p.R360K|SH2D2A_uc010phs.1_Missense_Mutation_p.R378K	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	378	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCCTGTCCTCTGTCCTGAAG	0.592000														82			101		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263073	1263073	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:1263073G>A	uc001lta.3	+	30	5022	c.4963G>A	c.(4963-4965)Gaa>Aaa	p.E1655K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1655	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCTCTCAGAAGGACTGAC	0.667000														19			6		0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39396029	39396029	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:39396029C>T	uc002ojw.3	+	2	576	c.473C>T	c.(472-474)cCc>cTc	p.P158L	NFKBIB_uc010egk.2_Missense_Mutation_p.P72L|NFKBIB_uc002ojx.3_Missense_Mutation_p.P126L|NFKBIB_uc002ojy.3_Missense_Mutation_p.P158L	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	158					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGGGAAGCCCCCGACACCTAC	0.692000														72			30		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511239	169511239	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:169511239C>T	uc001ggg.1	-	12	3234	c.3089G>A	c.(3088-3090)cGa>cAa	p.R1030Q		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1030	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCTTTTTTCGTGTCTTAAT	0.408000														302			52		0	0	1	0	0
RPL23AP82	284942	broad.mit.edu	37	22	51237414	51237414	+	RNA	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr22:51237414G>A	uc003bni.3	+	3		c.869G>A			RPL23AP82_uc003bns.3_Non-coding_Transcript|RPL23AP82_uc010hbj.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 82 (RPL23AP82), transcript variant 1, non-coding RNA.											lung(1)	1						AGATCAGACAGGCTGTGAAGA	0.478000														48			8		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16962020	16962020	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:16962020G>A	uc001ioo.3	-	43	6815	c.6763C>T	c.(6763-6765)Ccg>Tcg	p.P2255S		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2255	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTGTTTCCGGTGGAGCCGCT	0.458000														15			54		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446863	197446863	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:197446863C>T	uc001gtz.3	+	11	4284	c.4075C>T	c.(4075-4077)Ctc>Ttc	p.L1359F	CRB1_uc010poz.2_Missense_Mutation_p.L1335F|CRB1_uc009wza.3_Missense_Mutation_p.L1247F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.L823F|CRB1_uc010ppd.2_Missense_Mutation_p.L840F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1359					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						GTTACTGATCCTCTTGCTGGC	0.507000														32			59		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524968	112524968	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:112524968G>A	uc001ebu.1	-	1	861	c.381C>T	c.(379-381)atC>atT	p.I127I	KCND3_uc001ebv.1_Silent_p.I127I	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	127						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)		AGTCCCCGATGATCTCCGGGA	0.607000														51			27		0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189673	38189673	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:38189673T>A	uc002ohc.2	-	4	1955	c.1359A>T	c.(1357-1359)gaA>gaT	p.E453D	ZNF607_uc002ohb.2_Missense_Mutation_p.E452D	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACTTCCCACATTCTTTACATT	0.418000														57			66		0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872415	35872415	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:35872415A>C	uc001wtf.4	-	2	598	c.488T>G	c.(487-489)cTg>cGg	p.L163R		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	163					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGACTGAGTCAGGACTCCCAC	0.627000														124			32		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557689	210557689	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:210557689G>A	uc002vde.1	+	6	1043	c.795G>A	c.(793-795)tgG>tgA	p.W265*	MAP2_uc002vdc.1_Nonsense_Mutation_p.W265*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.W261*	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	265					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAAAGGACTGGTTCATCGAAA	0.478000														70			21		0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695896	64695896	+	Splice_Site	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:64695896C>T	uc001obz.3	+	5	1015	c.722_splice	c.e5+1	p.R241_splice	PPP2R5B_uc001oby.3_Splice_Site_p.R241_splice	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	241					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CATCTTCCTCCGGTGAGTGGC	0.607000														54			32		0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49245503	49245503	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:49245503T>G	uc002pkj.3	-	6	1111	c.563A>C	c.(562-564)cAg>cCg	p.Q188P	RASIP1_uc002pki.3_5'Flank|IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	188	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTCCGAAGCCTGATGCCAGTT	0.493000														129			32		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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					84			72		0	0	1	0	0
RPP25	54913	broad.mit.edu	37	15	75248413	75248413	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:75248413C>T	uc002azj.1	-	0	1363	c.512G>A	c.(511-513)aGg>aAg	p.R171K		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	Homo sapiens ribonuclease P/MRP 25kDa subunit (RPP25), mRNA.	171					tRNA processing	nucleus	RNA binding|protein binding|ribonuclease P activity			breast(1)|lung(1)	2						CCCTAGGCTCCTCTTGGACGC	0.677000														14			4		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10310251	10310251	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:10310251G>T	uc002gmm.2	-	17	2106	c.2011C>A	c.(2011-2013)Cac>Aac	p.H671N	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	671	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.H671Y(2)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTACGAAGTGAGGGTGTGTG	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					39			11		1.08611e-07	1.10778e-07	1	1	0
NDST4	64579	broad.mit.edu	37	4	115769369	115769369	+	Splice_Site	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:115769369A>C	uc003ibu.3	-	9	2619	c.1940_splice	c.e9+1	p.W647_splice	NDST4_uc010imw.3_Splice_Site	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	647	Heparan sulfate N-sulfotransferase 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)		TATTTTTCTTACCAGTCTATT	0.343000														51			9		0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3169515	3169515	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:3169515A>G	uc002cub.3	+	6	989	c.854A>G	c.(853-855)gAg>gGg	p.E285G	ZNF205_uc002cua.3_Missense_Mutation_p.E285G	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E284E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CCCAACGAGGAGGAGAAGGGC	0.706000														15			7		0	0	1	0	0
JSRP1	126306	broad.mit.edu	37	19	2255220	2255220	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:2255220C>A	uc002lvj.2	-	1	165	c.94G>T	c.(94-96)Gag>Tag	p.E32*		NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.	32	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		GCCCTGTCCTCCTGGGTCTCG	0.647000														59			9		0.00448238	0.0045217	1	1	0
CXorf57	55086	broad.mit.edu	37	X	105855852	105855852	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:105855852T>A	uc004emi.4	+	0	693	c.542T>A	c.(541-543)tTa>tAa	p.L181*	CXorf57_uc004emj.4_Nonsense_Mutation_p.L181*|CXorf57_uc004emh.2_Nonsense_Mutation_p.L181*	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	181										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGAGGCCTTTAAGAGGCGGG	0.468000														84			35		0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018530	101018530	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:101018530C>T	uc001thu.3	+	9	2173	c.1947C>T	c.(1945-1947)ggC>ggT	p.G649G	GAS2L3_uc009zty.3_Silent_p.G649G|GAS2L3_uc001thv.3_Silent_p.G545G	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	649					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAGAAGTGGCAAAACCCCAG	0.463000														60			15		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120597670	120597670	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:120597670G>A	uc001txo.3	-	23	2721	c.2708C>T	c.(2707-2709)tCc>tTc	p.S903F		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	903					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAGCCAAGGACAAGAAGGG	0.587000														92			31		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246616	65246616	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:65246616C>T	uc001xht.3	-	19	4351	c.4300G>A	c.(4300-4302)Gag>Aag	p.E1434K	SPTB_uc001xhr.3_Missense_Mutation_p.E1434K|SPTB_uc001xhs.3_Missense_Mutation_p.E1434K|SPTB_uc001xhu.3_Missense_Mutation_p.E1434K|SPTB_uc010aqi.3_Missense_Mutation_p.E95K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1434					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.E1433E(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCCCCAGCTCCTCTTTTCGC	0.582000														131			76		0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40434031	40434031	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:40434031G>A	uc001cev.3	+	11	1454	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	MFSD2A_uc010ojb.1_Missense_Mutation_p.D373N|MFSD2A_uc001ceu.3_Missense_Mutation_p.D412N|MFSD2A_uc010ojc.2_Missense_Mutation_p.D256N|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	425					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTCATTGACGACTTCCATCT	0.537000														48			24		0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140110573	140110573	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:140110573C>T	uc004clx.3	+	12	1720	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	NDOR1_uc004clw.3_Missense_Mutation_p.L528F|NDOR1_uc011mes.2_Missense_Mutation_p.L521F|NDOR1_uc004cly.3_Missense_Mutation_p.L494F	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	528					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGCACCGGCTCCGGGAGCT	0.647000														66			23		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61952392	61952392	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:61952392G>C	uc011aau.2	+	25	3281	c.3181G>C	c.(3181-3183)Gtg>Ctg	p.V1061L	COL20A1_uc011aav.2_Missense_Mutation_p.V882L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1061					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCCGCCTTCGTGTCTGCCTG	0.607000														7			18		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877922	28877922	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:28877922C>T	uc002dri.3	+	3	946	c.507C>T	c.(505-507)atC>atT	p.I169I	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Silent_p.I169I|SH2B1_uc002drk.3_Silent_p.I169I|SH2B1_uc002drl.3_Silent_p.I169I|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Silent_p.I169I|SH2B1_uc002drm.3_Silent_p.I169I	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	169	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCCGTGGCATCCTGCAGTGGC	0.622000														63			26		0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41943342	41943342	+	Nonsense_Mutation	SNP	C	T	T	rs77958839		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr13:41943342C>T	uc001uyf.2	+	14	2194	c.1870C>T	c.(1870-1872)Caa>Taa	p.Q624*	NAA16_uc010tfg.1_Non-coding_Transcript	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	624					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						acagaaaaatcaaaagaaaaa	0.353000														13			27		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52505549	52505549	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:52505549T>G	uc001wzo.3	-	8	2407	c.2173A>C	c.(2173-2175)Aac>Cac	p.N725H	NID2_uc010tqs.2_Missense_Mutation_p.N725H|NID2_uc010tqt.1_Missense_Mutation_p.N725H|NID2_uc001wzp.3_Missense_Mutation_p.N725H	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	725	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGTCCACGTTCAGCTGCTGG	0.512000														115			17		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072446	108072446	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:108072446C>T	uc003dwz.3	+	3	651	c.237C>T	c.(235-237)gaC>gaT	p.D79D	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Silent_p.D79D|HHLA2_uc003dwy.4_Silent_p.D79D	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	79	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AAGGCAGTGACCATTTGGAAA	0.398000														64			12		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085475	167085475	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:167085475A>C	uc010fpl.3	-	21	4240	c.3899T>G	c.(3898-3900)gTg>gGg	p.V1300G	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1311						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)	GAGTGCATTCACAACGACCTA	0.348000														66			22		0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226076544	226076544	+	Missense_Mutation	SNP	C	T	T	rs146054726		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:226076544C>T	uc001hpo.3	-	0	303	c.223G>A	c.(223-225)Gga>Aga	p.G75R	PYCR2_uc010pvj.2_Intron|LEFTY1_uc009xej.2_Missense_Mutation_p.G75R	NM_020997	NP_066277	O75610	LFTY1_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	75					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	p.R74L(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					AACCTCTTTCCGCGGGAGCGG	0.682000														74			13		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113265480	113265480	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:113265480G>A	uc010mtz.3	-	5	1658	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	SVEP1_uc010mua.1_Missense_Mutation_p.L441F|SVEP1_uc004beu.2_Missense_Mutation_p.L441F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	441	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.H440Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCTGGCGGAGATGAGGACAT	0.373000														52			52		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8421183	8421183	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:8421183A>G	uc001ape.3	-	18	3194	c.2384T>C	c.(2383-2385)gTt>gCt	p.V795A	RERE_uc001apf.3_Missense_Mutation_p.V795A|RERE_uc010nzx.1_Missense_Mutation_p.V527A|RERE_uc001apd.3_Missense_Mutation_p.V241A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	795	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGTGTGGGGAACAGGCGCTGT	0.731000														2			2		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56462777	56462777	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:56462777T>C	uc003pcy.4	-	27	4195	c.4087A>G	c.(4087-4089)Agc>Ggc	p.S1363G	DST_uc010kaa.1_Non-coding_Transcript	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3775				K -> E (in Ref. 3; AAL62061).	cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	p.E1363*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGGTTTTGCTCTCTTCCAGC	0.438000														42			23		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74350637	74350637	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:74350637C>T	uc003dpm.1	-	14	2087	c.2007G>A	c.(2005-2007)gtG>gtA	p.V669V		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	669	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTCATATTCCACCCATGGGT	0.438000														87			35		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235866078	235866078	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:235866078G>A	uc001hxj.2	-	44	10518	c.10343C>T	c.(10342-10344)aCc>aTc	p.T3448I	LYST_uc001hxi.2_Missense_Mutation_p.T672I	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3448					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.E3447D(1)|p.E3447Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGTTCTCGGGTCTCCCTGAA	0.498000														58			114		0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615507	4615507	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:4615507C>T	uc010qyi.2	+	0	239	c.239C>T	c.(238-240)tCc>tTc	p.S80F		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S105F(2)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCCTCCTCCGTGGTACCC	0.502000														71			27		0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35673969	35673969	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:35673969C>T	uc003tes.4	-	7	1671	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	HERPUD2_uc003tet.3_Missense_Mutation_p.V338I	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	338					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TCATTGTTAACTTCGGCATTA	0.383000														46			9		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655486	38655486	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:38655486C>T	uc002ohk.3	+	14	4657	c.4148C>T	c.(4147-4149)tCc>tTc	p.S1383F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1383					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTGTACTCCTCCGGCTCCAGC	0.687000														20			23		0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27904665	27904665	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:27904665G>A	uc002heg.2	-	10	1220	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	GIT1_uc002hef.2_Nonsense_Mutation_p.Q327*|GIT1_uc010wbg.1_Nonsense_Mutation_p.Q336*	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	327	ARHGEF6-binding (By similarity).|PTK2-binding (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CCCCTCACCTGATTCCGCGTG	0.632000														67			76		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122399997	122399997	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:122399997G>A	uc009zxk.3	+	14	2580	c.2421G>A	c.(2419-2421)agG>agA	p.R807R	WDR66_uc021rfh.1_Silent_p.R807R	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	807							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CACTCACCAGGGAACTCTTCC	0.517000														87			21		0	0	1	0	0
NMU	10874	broad.mit.edu	37	4	56482528	56482528	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:56482528G>A	uc003hbc.3	-	2	302	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	NMU_uc003hbd.1_Non-coding_Transcript|NMU_uc010igv.1_Non-coding_Transcript|NMU_uc010igw.1_Intron|NMU_uc010igx.1_Non-coding_Transcript	NM_006681	NP_006672	P48645	NMU_HUMAN	Homo sapiens neuromedin U (NMU), mRNA.	66					neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TCAATGGACAGAAAAGACGAA	0.348000														44			11		0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922110	43922110	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:43922110C>A	uc002owk.3	+	7	1087	c.526C>A	c.(526-528)Ccc>Acc	p.P176T	TEX101_uc010xwo.2_Missense_Mutation_p.P158T	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	158						anchored to membrane|plasma membrane		p.C175F(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TCTTCCCTGTCCCAATGGTAC	0.463000														149			35		6.53348e-20	6.97308e-20	1	1	0
TNK2	10188	broad.mit.edu	37	3	195595288	195595288	+	Silent	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:195595288C>A	uc003fvu.1	-	11	2379	c.1836G>T	c.(1834-1836)ctG>ctT	p.L612L	TNK2_uc003fvq.1_Silent_p.L19L|TNK2_uc003fvr.1_Silent_p.L137L|TNK2_uc003fvs.1_Silent_p.L644L|TNK2_uc003fvt.1_Silent_p.L690L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	612	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGGCCGGGGCAGTGCCCGCG	0.746000														49			15		4.7546e-09	4.88196e-09	1	1	0
GPR112	139378	broad.mit.edu	37	X	135482222	135482222	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:135482222T>C	uc004ezu.1	+	20	8813	c.8522T>C	c.(8521-8523)gTc>gCc	p.V2841A	GPR112_uc010nsb.1_Missense_Mutation_p.V2636A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2841					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTAGTCAAAGTCTTCAACATA	0.378000														50			18		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46862498	46862498	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:46862498C>T	uc021tzm.1	-	12	1862	c.1827G>A	c.(1825-1827)agG>agA	p.R609R	TTLL6_uc002iob.3_Silent_p.R302R|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Silent_p.R362R|TTLL6_uc002iod.3_Silent_p.R456R	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	561						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTTCATTTTTCCTTTCACCTC	0.517000														81			26		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121769004	121769004	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:121769004C>T	uc003pyr.3	+	1	1261	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	GJA1_uc011ebo.1_Silent_p.F238F|GJA1_uc011ebp.1_Silent_p.F125F|GJA1_uc021zel.1_Silent_p.F337F	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	337					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTTTTGATTTCCCCGATGATA	0.483000														90			28		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115335708	115335708	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:115335708G>A	uc001lai.4	+	3	379	c.276G>A	c.(274-276)ggG>ggA	p.G92G	HABP2_uc021pyr.1_Silent_p.G66G|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.G81E	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	92	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TCGTCCATGGGAGCACCTTCA	0.527000														128			52		0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565421	38565421	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:38565421C>T	uc003cih.2	+	5	771	c.675C>T	c.(673-675)ccC>ccT	p.P225P	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_Silent_p.P85P|EXOG_uc003cii.2_Silent_p.P85P|EXOG_uc011ayq.1_Silent_p.P175P|EXOG_uc003cij.2_Silent_p.P85P|EXOG_uc010hhd.2_Silent_p.P85P|EXOG_uc010hhe.2_Silent_p.P85P|EXOG_uc003cik.2_Silent_p.P85P	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	225						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGGCAGTCCCCTCACACCTTT	0.478000														51			44		0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23392335	23392335	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:23392335G>A	uc001whm.1	-	12	1501	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S	PRMT5_uc001whl.1_Silent_p.S453S|PRMT5_uc010tnf.1_Silent_p.S364S|PRMT5_uc010tnh.1_Silent_p.S426S|PRMT5_uc010tng.1_Silent_p.S409S|PRMT5_uc001whn.1_Silent_p.S299S	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	470					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.T469T(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GAGCCAGAAAGGAAGTGTACT	0.517000														22			6		0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48614177	48614177	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:48614177C>T	uc010wms.2	+	2	613	c.425C>T	c.(424-426)aCg>aTg	p.T142M	EPN3_uc002ira.4_Missense_Mutation_p.T87M|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.T87M			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	87	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CTGCTCAAGACGGGCTCCGAG	0.612000														127			62		0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879778	1879778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:1879778C>T	uc003jcz.2	-	3	695	c.576G>A	c.(574-576)tgG>tgA	p.W192*	IRX4_uc011cmf.1_Nonsense_Mutation_p.W53*	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	192					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CGTTGGCGAACCAGGTGGAGA	0.642000														167			63		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:39296282G>T	uc010cxk.2	-	0	458	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000														72			7		0.248553	0.248553	1	1	0
ATP2B3	492	broad.mit.edu	37	X	152823641	152823641	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:152823641C>T	uc004fht.1	+	14	2631	c.2505C>T	c.(2503-2505)atC>atT	p.I835I	ATP2B3_uc004fhs.1_Silent_p.I835I|ATP2B3_uc010nuf.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	835					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACCAGCATCGTCAAGGCAG	0.572000														35			108		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215876	20215876	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:20215876G>A	uc010tkt.2	+	0	290	c.290G>A	c.(289-291)gGa>gAa	p.G97E		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTTTCAGGATGCCTGGCC	0.473000														94			23		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490771	65490771	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:65490771C>T	uc002aon.2	-	8	2034	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	618					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTTCACTTTTCCTATGTAGGG	0.527000														100			39		0	0	1	0	0
LOC255025	255025	broad.mit.edu	37	3	94890849	94890849	+	RNA	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:94890849C>T	uc003drn.3	+	2		c.313C>T								Homo sapiens uncharacterized LOC255025 (LOC255025), non-coding RNA.																		ACAGCCTCTGCCATCACTATC	0.463000														21			10		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149908093	149908093	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:149908093G>A	uc001etl.4	-	1	347	c.96C>T	c.(94-96)ccC>ccT	p.P32P	MTMR11_uc001etm.2_5'UTR|MTMR11_uc010pbm.1_Silent_p.P4P|MTMR11_uc010pbn.1_5'Flank|MTMR11_uc010pbo.1_Non-coding_Transcript	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	32							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GACGACTCCTGGGCTCCGGCA	0.557000														46			98		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151927113	151927113	+	Splice_Site	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:151927113C>T	uc003wla.3	-	18	3091	c.2872_splice	c.e18-1	p.D958_splice	MLL3_uc003wkz.3_Splice_Site_p.D19_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	958					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.?(2)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CACACATATCCTGAAGTTAAG	0.353000			N		medulloblastoma									282			12		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874452	10874452	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:10874452G>A	uc003mzn.4	-	4	1369	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	433					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	p.P433P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACTGTCACCGGAGGACCCCAG	0.547000														53			18		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590601	136590601	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:136590601C>T	uc003qgx.1	-	8	2446	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgy.1_Silent_p.K729K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.K729K|BCLAF1_uc003qgw.1_Silent_p.K558K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	731					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTTGTATTCCTTGTAATCTT	0.368000														44			4		0	0	1	0	0
TMEM183B	653659	broad.mit.edu	37	1	202984110	202984110	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:202984110C>T	uc001gyu.1	+	3	521	c.461C>T	c.(460-462)tCc>tTc	p.S154F	TMEM183B_uc009xai.1_Missense_Mutation_p.S154F|TMEM183B_uc001gyv.1_Non-coding_Transcript|TMEM183B_uc001gyw.1_Missense_Mutation_p.S153F	NM_001079809	NP_001073277	Q1AE95	T183B_HUMAN	Homo sapiens transmembrane protein 183B (TMEM183B), mRNA.	154						integral to membrane								BRCA - Breast invasive adenocarcinoma(75;0.18)			GTGAATTTTTCCCTGATTTGT	0.488000														35			8		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747328	19747328	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:19747328G>C	uc003jgd.3	-	3	780	c.246C>G	c.(244-246)gaC>gaG	p.D82E	CDH18_uc011cnm.2_Missense_Mutation_p.D82E|CDH18_uc003jgc.3_Missense_Mutation_p.D82E|CDH18_uc021xwu.1_Missense_Mutation_p.D82E	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	82	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATCACCTTTGTCAGAATTGG	0.383000														56			17		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275188	150275188	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:150275188C>A	uc021yfx.1	-	6	2089	c.1661G>T	c.(1660-1662)gGa>gTa	p.G554V	ZNF300_uc021yfy.1_Missense_Mutation_p.G538V|ZNF300_uc021yfz.1_Missense_Mutation_p.G502V	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCTGGTGTCCCGGAAGGTG	0.423000														36			19		3.57192e-18	3.78591e-18	1	1	0
ZNF20	7568	broad.mit.edu	37	19	12243515	12243515	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:12243515G>A	uc002mtg.2	-	7	2068	c.1486C>T	c.(1486-1488)Cat>Tat	p.H496Y	ZNF20_uc002mte.2_Missense_Mutation_p.H461Y|ZNF20_uc002mtf.2_Missense_Mutation_p.H496Y|ZNF20_uc021upm.1_Missense_Mutation_p.H493Y	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GTCCTTTCATGATATCGAATG	0.413000														177			61		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000450	121000450	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:121000450C>T	uc010rzo.2	+	8	2471	c.2471C>T	c.(2470-2472)aCt>aTt	p.T824I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	824	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCGTGGTGACTGTCCAGTAC	0.488000														117			38		0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94834291	94834291	+	Splice_Site	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:94834291T>C	uc001kil.2	+	2	459	c.414_splice	c.e2+2	p.K138_splice	CYP26A1_uc001kik.1_Splice_Site_p.K69_splice	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	138					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CGCAAGAAGGTGGGGGCAGGA	0.647000														176			75		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47879795	47879795	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:47879795C>T	uc010xyn.2	+	11	2926	c.2577C>T	c.(2575-2577)gcC>gcT	p.A859A	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	859						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCTGGAGGCCAGCAACTGCG	0.672000														4			4		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4418031	4418031	+	Silent	SNP	C	T	T	rs143106881		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:4418031C>T	uc002mal.3	+	3	1075	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	325	Arg/Glu/Lys-rich.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAAGAAATTCGTCAAAGGCT	0.348000								Chromatin Structure						48			30		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22804576	22804576	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr21:22804576A>C	uc002yld.2	+	11	1878	c.1629A>C	c.(1627-1629)aaA>aaC	p.K543N	NCAM2_uc011acb.2_Missense_Mutation_p.K401N	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	543	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAATCTGGAAAATTGTACGCT	0.428000														31			6		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231671	7231671	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr18:7231671C>T	uc010wzk.2	+	0	535	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	179										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CGCGCACATCCCCATGTGTGT	0.557000														46			77		0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97247435	97247435	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:97247435G>A	uc010kcl.3	-	2	651	c.173C>T	c.(172-174)tCc>tTc	p.S58F	GPR63_uc003pou.3_Missense_Mutation_p.S58F|GPR63_uc021zcy.1_Missense_Mutation_p.S58F	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	58						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CACGGTCAAGGAACTCAAACC	0.438000														30			46		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175844	55175844	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:55175844T>C	uc002qgp.3	+	3	925	c.563T>C	c.(562-564)gTg>gCg	p.V188A	LILRB4_uc002qgq.3_Missense_Mutation_p.V188A|LILRB4_uc010ers.1_Missense_Mutation_p.V101A|LILRB4_uc010ert.3_Missense_Mutation_p.V229A|LILRB4_uc010eru.3_Missense_Mutation_p.V217A	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	188	Ig-like C2-type 2.					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)		GTGACCTCAGTGCACGGGGGG	0.602000														135			34		0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240549	39240549	+	Missense_Mutation	SNP	C	G	G	rs151117992	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:39240549C>G	uc010wfn.2	+	0	91	c.91C>G	c.(91-93)Cag>Gag	p.Q31E		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCTGCTGTCAGACCACCTG	0.632000														58			4		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138921784	138921784	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:138921784G>A	uc011kqr.2	+	1	502	c.502G>A	c.(502-504)Gat>Aat	p.D168N		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	168										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCCATTTAATGATGAACATCA	0.323000														145			25		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026099	56026099	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:56026099G>A	uc021wzo.1	-	9	2381	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	ERC2_uc003dhr.1_Silent_p.I747I|ERC2_uc003dht.1_Silent_p.I230I	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	747						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAGTTCTGCGATCTTCTTGT	0.498000														123			31		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139075	64139075	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:64139075C>T	uc004dvu.3	-	3	564	c.408G>A	c.(406-408)gaG>gaA	p.E136E	ZC4H2_uc004dvv.3_Silent_p.E113E|ZC4H2_uc022byd.1_Silent_p.E113E|ZC4H2_uc022byc.1_Silent_p.E113E|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Silent_p.E113E|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	136							metal ion binding|protein binding	p.E136K(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTTTCTGCTTCTCAAAGTAAC	0.532000														25			31		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051635	96051636	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:96051635_96051636GG>AA	uc004ati.1	+	19	4710_4711	c.4710_4711GG>AA	c.(4708-4713)tcggat>tcAAat	p.D1571N	WNK2_uc011lud.1_Missense_Mutation_p.D1534N|WNK2_uc004atj.3_Missense_Mutation_p.D1534N|WNK2_uc004atk.3_Missense_Mutation_p.D1171N|WNK2_uc004atl.1_Missense_Mutation_p.D129N	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1571					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGGAGTCGGATGGGGAAGG	0.703000														37			5		0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520188	23520188	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:23520188G>A	uc001bgn.3	-	0	1035	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	175					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCTGCCGCCAGAAGAGCGGGG	0.592000														60			19		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68642977	68642977	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:68642977C>T	uc010bib.3	-	8	1125	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	ITGA11_uc002ari.3_Silent_p.G346G	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	346					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGATTCTGTCCCCCAGGGCAT	0.483000														48			22		0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119549160	119549160	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:119549160C>T	uc001pwv.3	-	1	567	c.395G>A	c.(394-396)gGc>gAc	p.G132D	PVRL1_uc001pwu.1_Missense_Mutation_p.G132D|PVRL1_uc001pww.3_Missense_Mutation_p.G132D	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	132	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TTCTCGATTGCCCGTAGGGAA	0.617000														71			29		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143065	55143065	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:55143065G>A	uc002qgj.3	+	4	525	c.185G>A	c.(184-186)aGa>aAa	p.R62K	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.R62K|LILRB1_uc002qgk.3_Missense_Mutation_p.R62K|LILRB1_uc002qgm.3_Missense_Mutation_p.R62K|LILRB1_uc010erq.3_Missense_Mutation_p.R62K|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	62	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.Y61H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGTCTATATAGAGAAAAGAAA	0.582000										HNSCC(37;0.09)				97			84		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106877714	106877714	+	RNA	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:106877714G>A	uc021ser.1	-	409		c.13211C>T								Parts of antibodies, mostly variable regions.																		ATGGTGACTCGACTCTTGAGG	0.567000														90			44		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107136895	107136895	+	Splice_Site	SNP	C	T	T	rs113570764		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:107136895C>T	uc021ser.1	-	70		c.3314_splice	c.e70+1							Parts of antibodies, mostly variable regions.																		TTCATCTCATCCCCAGACTGC	0.567000														61			12		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7168070	7168070	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:7168070T>C	uc002mgd.1	-	6	1628	c.1519A>G	c.(1519-1521)Aca>Gca	p.T507A	INSR_uc002mge.1_Missense_Mutation_p.T507A|INSR_uc002mgf.3_Missense_Mutation_p.T507A	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	507					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCAAAAGATGTCCGAATGTAA	0.433000														54			15		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197409405	197409405	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:197409405G>A	uc003fyc.2	-	13	2245	c.2062C>T	c.(2062-2064)Cgt>Tgt	p.R688C	KIAA0226_uc003fyd.3_Missense_Mutation_p.R643C|KIAA0226_uc003fye.1_Missense_Mutation_p.R420C	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	688					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AAGTTGCCACGAACACGAATC	0.577000														45			31		0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000														6			3		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238098	126238098	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:126238098C>T	uc003ifj.4	+	0	532	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	178	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGCATCATCCGCGGCAATGA	0.632000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			12		0	0	1	0	0
B4GALT3	8703	broad.mit.edu	37	1	161144929	161144929	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:161144929G>A	uc001fys.2	-	3	999	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	PPOX_uc001fyi.2_Intron|PPOX_uc010pkh.1_Intron|B4GALT3_uc001fyr.2_Missense_Mutation_p.R115C|B4GALT3_uc001fyq.2_Missense_Mutation_p.R115C|B4GALT3_uc001fyp.1_Non-coding_Transcript|B4GALT3_uc009wud.2_Missense_Mutation_p.R115C	NM_001199874	NP_001186803	O60512	B4GT3_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3), transcript variant 3, mRNA.	115					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CCTGCAGGGCGGTACCGGCCC	0.637000														107			125		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106500199	106500199	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:106500199G>A	uc001tlj.1	-	1	1725	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	115	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAATACTGATGATATGAGGAT	0.368000														30			7		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945812	144945812	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:144945812G>A	uc003zaa.1	-	0	1623	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	537						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCTCCACGGAGAGGGTCCC	0.662000														18			3		0	0	1	0	0
SOWAHC	65124	broad.mit.edu	37	2	110372897	110372897	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:110372897T>A	uc002tfb.3	+	0	987	c.831T>A	c.(829-831)gaT>gaA	p.D277E	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.3_5'Flank|SEPT10_uc002tex.3_5'Flank|SEPT10_uc002tey.3_5'Flank|SEPT10_uc010ywv.2_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member C (SOWAHC), mRNA.	277																	CTGCCTCCGATGGCAAGTGGG	0.687000														25			11		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715094	55715094	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:55715094C>T	uc010spi.2	+	0	711	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGGCCTTTTCCACATGTTCTT	0.383000														21			22		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127782225	127782225	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:127782225A>C	uc003kuu.3	-	6	1340	c.901T>G	c.(901-903)Tgc>Ggc	p.C301G	FBN2_uc003kuv.2_Missense_Mutation_p.C268G|FBN2_uc003kuw.4_Missense_Mutation_p.C301G	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	301	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGCATCTGCATTCAAAAGAG	0.428000														52			22		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901313	40901313	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:40901313C>T	uc002onr.3	-	6	3215	c.2946G>A	c.(2944-2946)gaG>gaA	p.E982E	PRX_uc002onq.3_Silent_p.E843E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	982					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGGCCTGCCTCCCCAGCCC	0.647000														103			38		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31625971	31625971	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:31625971C>G	uc002rnv.1	-	2	219	c.140G>C	c.(139-141)gGc>gCc	p.G47A		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	47	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCCCCGCAGCCCCCCTCTCC	0.577000														136			23		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66951562	66951562	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:66951562G>A	uc002eql.3	-	2	306	c.112C>T	c.(112-114)Cct>Tct	p.P38S	CDH16_uc010cdy.3_Missense_Mutation_p.P38S|CDH16_uc021tjx.1_Missense_Mutation_p.P38S|CDH16_uc002eqm.3_Missense_Mutation_p.P38S	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	38	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGTATAAAGGGAAATTTCCA	0.582000														11			8		0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108282084	108282084	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:108282084C>T	uc003dxb.4	-	12	1792	c.1523G>A	c.(1522-1524)cGt>cAt	p.R508H	KIAA1524_uc010hpv.1_Missense_Mutation_p.R75H	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	508						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTAATCAAACGTGGGTCCTA	0.358000														156			86		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46851970	46851970	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:46851970C>T	uc003oyo.3	-	4	656	c.367G>A	c.(367-369)Gag>Aag	p.E123K	GPR116_uc003oyp.3_Missense_Mutation_p.E123K|GPR116_uc003oyq.3_Missense_Mutation_p.E123K|GPR116_uc003oyr.2_Missense_Mutation_p.E123K	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TAACCTGTCTCGCAGGAGCAC	0.488000														56			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175678	140175678	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:140175678C>T	uc003lhd.2	+	0	1235	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.R377C|PCDHAC2_uc011czy.2_Missense_Mutation_p.R377C	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	392	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCGGATCGCGACTCTGG	0.522000														85			41		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38953653	38953653	+	Silent	SNP	A	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:38953653A>G	uc003jlo.2	-	27	2722	c.2700T>C	c.(2698-2700)aaT>aaC	p.N900N	RICTOR_uc003jlp.2_Silent_p.N900N|RICTOR_uc010ivf.2_Silent_p.N615N	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	900					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTAATAATATTCTGGAGAA	0.279000														125			35		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434096	179434096	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:179434096C>T	uc021vsy.1	-	274	69284	c.69059G>A	c.(69058-69060)gGa>gAa	p.G23020E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G16715E|TTN_uc021vta.1_Missense_Mutation_p.G16648E|TTN_uc021vtb.1_Missense_Mutation_p.G16523E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23947	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)			AGACTTTGTTCCACTGCTGTT	0.398000														137			52		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58384854	58384854	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:58384854C>T	uc002qqo.2	-	2	2176	c.1904G>A	c.(1903-1905)gGa>gAa	p.G635E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	635					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCCACAGTCTCCACACTTGTA	0.438000														69			4		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471421	146471421	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:146471421C>T	uc003weu.2	+	1	672	c.156C>T	c.(154-156)tcC>tcT	p.S52S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	52	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAGCTCCTCCTCCATCTCTG	0.428000										HNSCC(39;0.1)				31			26		0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090126	52090126	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:52090126T>G	uc002pxb.3	+	4	920	c.542T>G	c.(541-543)aTg>aGg	p.M181R		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	181					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCTGGGAAAATGATTCGCACG	0.408000														91			23		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585866	7585866	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:7585866C>T	uc003mxp.1	+	23	8650	c.8371C>T	c.(8371-8373)Cgc>Tgc	p.R2791C	DSP_uc003mxq.1_Missense_Mutation_p.R2192C|DSP_uc021yle.1_Missense_Mutation_p.R2348C	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2791	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCCATAAATCGCTCCATGGT	0.542000														268			168		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722577	50722577	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr22:50722577G>A	uc003bkv.4	-	12	2340	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	749					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTTGCTGTCGATATTCTTGC	0.682000														37			61		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45394012	45394012	+	Missense_Mutation	SNP	C	T	T	rs143124929		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:45394012C>T	uc001zun.3	-	20	3033	c.2830G>A	c.(2830-2832)Ggt>Agt	p.G944S	DUOX2_uc010bea.3_Missense_Mutation_p.G944S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	944					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	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|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)		CCACCTCCACCTTTGACACAG	0.582000														31			20		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184767251	184767251	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:184767251T>G	uc001gra.3	-	12	1822	c.1628A>C	c.(1627-1629)gAg>gCg	p.E543A	FAM129A_uc001grb.1_Missense_Mutation_p.E306A	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	543					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGTAAAATCTCCTCATAGAC	0.418000														22			19		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102650393	102650393	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:102650393G>A	uc001phg.2	-	1	226	c.189C>T	c.(187-189)atC>atT	p.I63I		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	63					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GCATTCCTTGGATTTTTTTAA	0.428000														18			10		0	0	1	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498764	66498764	+	RNA	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:66498764G>A	uc011dxw.2	+	0		c.993G>A								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		CATCATGACAGATTTACCAAC	0.463000														35			34		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847658	130847658	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:130847658G>A	uc001uik.3	+	17	2435	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N	PIWIL1_uc001uij.2_Missense_Mutation_p.D722N	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	722	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACAGTTTTTGGATTGTCTAAA	0.423000														80			17		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13672316	13672316	+	Splice_Site	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:13672316G>A	uc011avc.2	+	15	3467	c.3085_splice	c.e15+1	p.D1029_splice	FBLN2_uc011auz.2_Splice_Site_p.D1008_splice|FBLN2_uc011avb.2_Splice_Site_p.D982_splice|FBLN2_uc011ava.2_Splice_Site_p.D1029_splice	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1025	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACCTGCACAGGTACCTCTCCC	0.627000														4			5		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088198	92088198	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:92088198A>T	uc001xzs.1	-	18	2154	c.2014T>A	c.(2014-2016)Tta>Ata	p.L672I	CATSPERB_uc010aub.1_Missense_Mutation_p.L194I	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	672					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTATTATCTAAAATGCTTGTG	0.408000														30			24		0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70363264	70363264	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:70363264C>T	uc002eyo.3	+	7	806	c.677C>T	c.(676-678)tCc>tTc	p.S226F	DDX19B_uc002eys.3_Intron|DDX19B_uc010vlv.2_Missense_Mutation_p.S200F|DDX19B_uc010vlw.2_Missense_Mutation_p.S117F|DDX19B_uc002eyp.3_Missense_Mutation_p.S195F|DDX19B_uc002eyq.3_Missense_Mutation_p.S117F|DDX19B_uc010vlx.2_Missense_Mutation_p.S75F|LOC100506083_uc002eyt.3_Intron	NM_007242	NP_001014449	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	226	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GACTGGTGCTCCAAGCTCAAG	0.507000														26			39		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66431926	66431926	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:66431926G>A	uc002eom.4	+	8	1558	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	468	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGTCCACATTGAAGTTTTGGA	0.542000														140			50		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13817760	13817760	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:13817760C>T	uc003jfd.2	-	41	6927	c.6885G>A	c.(6883-6885)gcG>gcA	p.A2295A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2295	AAA 2 (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)					GGGCAGTAATCGCTTTGGGAT	0.418000									Kartagener syndrome					44			42		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118502657	118502657	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:118502657C>T	uc001ptr.2	+	8	2481	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	PHLDB1_uc001pts.3_Nonsense_Mutation_p.Q710*|PHLDB1_uc001ptt.3_Nonsense_Mutation_p.Q710*|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Nonsense_Mutation_p.Q510*|PHLDB1_uc001ptw.2_Nonsense_Mutation_p.Q112*|PHLDB1_uc009zai.2_5'UTR|PHLDB1_uc001ptx.2_5'UTR	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	710										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CACCAAGCTCCAGGGAGAGGT	0.567000														126			4		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68260384	68260384	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:68260384G>A	uc001xka.2	-	13	2633	c.2494C>T	c.(2494-2496)Cca>Tca	p.P832S	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P832S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	832					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GACTCAGGTGGGGAGAACATC	0.557000														44			21		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102900832	102900832	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:102900832C>T	uc001ylw.2	+	8	1904	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	TECPR2_uc010awl.3_Silent_p.L560L|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	560							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCCTGATTCTCTGGCTGAGGA	0.512000														42			29		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10567375	10567375	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:10567375C>T	uc002czw.3	+	7	1625	c.1466C>T	c.(1465-1467)cCc>cTc	p.P489L	ATF7IP2_uc010uyp.2_Missense_Mutation_p.P33L|ATF7IP2_uc002czu.3_Missense_Mutation_p.P489L|ATF7IP2_uc002czv.3_Missense_Mutation_p.P489L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AGCAATTCTCCCAATGCTGAA	0.284000														67			17		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346683	48346683	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:48346683T>C	uc010rhv.2	+	0	191	c.191T>C	c.(190-192)gTt>gCt	p.V64A		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGGTCACGGTTTGTGGCAAC	0.463000														79			5		0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185339635	185339635	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:185339635T>G	uc003fpn.3	+	13	1639	c.1468T>G	c.(1468-1470)Tgt>Ggt	p.C490G	SENP2_uc011brv.2_Missense_Mutation_p.C480G|SENP2_uc011brw.2_Missense_Mutation_p.C303G	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	490	Protease.				Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AAGAAAAAAGTGTCTTAAATA	0.363000														36			8		0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318539	71318539	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:71318539C>T	uc001dfk.1	-	3	1339	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	PTGER3_uc001dfg.1_3'UTR|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.E361K	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCCCAAAATTCCTCCTGGAAA	0.323000														146			42		0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133673812	133673812	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:133673812C>T	uc003ytk.3	-	1	146	c.72G>A	c.(70-72)gaG>gaA	p.E24E	LRRC6_uc022bbp.1_Silent_p.E24E|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	24						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACGAGAGTTCCTCCAGGGAAA	0.368000														35			8		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980615	121980615	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:121980615C>A	uc003eew.4	+	3	1171	c.733C>A	c.(733-735)Cag>Aag	p.Q245K	CASR_uc003eev.4_Missense_Mutation_p.Q245K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	245					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.Q245Q(1)|p.S244S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACTCATCTCCCAGTACTCTGA	0.502000														331			69		4.37588e-27	4.69208e-27	1	1	0
SLC27A3	11000	broad.mit.edu	37	1	153749147	153749147	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:153749147C>T	uc001fcz.3	+	1	1027	c.962C>T	c.(961-963)tCt>tTt	p.S321F	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	321					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGATACCTCTCTTCCCCCCAG	0.597000														72			37		0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48146655	48146655	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:48146655C>T	uc001ngp.4	+	5	1365	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	PTPRJ_uc001ngo.4_Missense_Mutation_p.P337L	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	337	Fibronectin type-III 3.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGTTAGAGCCTGGCACCCGA	0.582000														99			32		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118375064	118375064	+	Silent	SNP	C	T	T	rs142499035	byFrequency	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:118375064C>T	uc001pta.3	+	26	8471	c.8448C>T	c.(8446-8448)tcC>tcT	p.S2816S	MLL_uc001ptb.3_Silent_p.S2819S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2816					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTACCCCCTCCGACAAAAATT	0.448000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									90			33		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091674	16091674	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:16091674C>T	uc001axd.1	+	3	639	c.196C>T	c.(196-198)Cct>Tct	p.P66S	FBLIM1_uc001axe.1_Missense_Mutation_p.P66S|FBLIM1_uc001axg.1_Missense_Mutation_p.P66S|FBLIM1_uc001axh.1_Missense_Mutation_p.P66S|FBLIM1_uc001axi.1_Missense_Mutation_p.P66S	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	66	Filamin-binding.|Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CTGGACAACCCCTGGCAGAGC	0.667000														48			14		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394877	86394877	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:86394877C>A	uc003uid.3	+	1	1515	c.416C>A	c.(415-417)cCa>cAa	p.P139Q	GRM3_uc010lef.3_Missense_Mutation_p.P137Q|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	139					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAAAACATCCCACTTCTCATT	0.423000														102			20		3.99206e-14	4.17351e-14	1	1	0
PTPRT	11122	broad.mit.edu	37	20	41408878	41408878	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:41408878C>A	uc002xkg.3	-	3	732	c.548G>T	c.(547-549)cGg>cTg	p.R183L	PTPRT_uc010ggj.3_Missense_Mutation_p.R183L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	183	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGCAAGGACCCGGACCTCGTC	0.522000														148			23		2.48779e-11	2.57165e-11	1	1	0
USP34	9736	broad.mit.edu	37	2	61468711	61468711	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:61468711G>A	uc002sbe.3	-	52	6783	c.6761C>T	c.(6760-6762)tCg>tTg	p.S2254L	USP34_uc002sbf.3_Missense_Mutation_p.S404L	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2254					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAACTCTGACGAAACATCAAA	0.328000														11			18		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50119027	50119027	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:50119027C>T	uc002poo.4	+	8	5048	c.5048C>T	c.(5047-5049)cCc>cTc	p.P1683L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	862							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)		GCCAAGAACCCCGTATCTGCT	0.592000														15			6		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207090	121207090	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:121207090G>A	uc003eee.4	-	15	4817	c.4688C>T	c.(4687-4689)tCt>tTt	p.S1563F	POLQ_uc003eed.3_Missense_Mutation_p.S735F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1563					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATCTGAACAGAATCCATTTC	0.343000								DNA polymerases (catalytic subunits)						80			24		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14508057	14508057	+	Silent	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:14508057T>G	uc003jff.3	+	56	8826	c.8820T>G	c.(8818-8820)gcT>gcG	p.A2940A	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2940	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGGAGATGCTGTTCAGCTCA	0.498000														54			9		0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398251	57398251	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:57398251C>T	uc001sml.2	-	1	604	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	ZBTB39_uc021qzg.1_Missense_Mutation_p.E151K	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGGCAGGTTCTGCCGAAGGA	0.562000														132			28		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322290	55322290	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:55322290G>A	uc010rig.2	+	0	508	c.508G>A	c.(508-510)Gcc>Acc	p.A170T		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTCCTCACAGCCATGGCCTA	0.493000										HNSCC(20;0.049)				71			30		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178411872	178411872	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:178411872C>T	uc001glq.3	+	7	1754	c.990C>T	c.(988-990)gcC>gcT	p.A330A	RASAL2_uc001glr.3_Silent_p.A182A	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	182	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGGACCTTGCCCCTAAAAAGA	0.428000														66			52		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048763	50048763	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:50048763G>A	uc002xwd.3	-	8	2783	c.2563C>T	c.(2563-2565)Ctg>Ttg	p.L855L	NFATC2_uc002xwc.3_Silent_p.L855L|NFATC2_uc010zyv.2_Silent_p.L636L|NFATC2_uc010zyw.2_Silent_p.L636L|NFATC2_uc002xwe.3_Silent_p.L835L|NFATC2_uc010zyx.2_Silent_p.L835L|NFATC2_uc010zyy.2_Silent_p.L636L|NFATC2_uc010zyz.2_Silent_p.L636L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	855					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCCGGGCTCAGCCTCTGACCT	0.592000														130			48		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37882009	37882009	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:37882009G>A	uc002hso.3	+	22	3013	c.2775G>A	c.(2773-2775)ggG>ggA	p.G925G	ERBB2_uc010cwa.3_Silent_p.G910G|ERBB2_uc002hsm.3_Silent_p.G895G|ERBB2_uc002hsp.3_Silent_p.G728G|ERBB2_uc010cwb.3_Silent_p.G925G|ERBB2_uc010wek.2_Silent_p.G649G|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	925	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTTACGATGGGATCCCAGCCC	0.577000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				28			29		0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48675031	48675031	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:48675031C>T	uc011mmi.1	+	18	1877	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	HDAC6_uc004dks.1_Silent_p.L594L|HDAC6_uc010nig.1_Silent_p.L442L|HDAC6_uc004dkt.1_Silent_p.L594L|HDAC6_uc011mmk.1_Silent_p.L575L|HDAC6_uc004dkv.1_Silent_p.L242L|HDAC6_uc004dkw.1_Silent_p.L242L|HDAC6_uc004dkx.1_5'Flank	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	594	Histone deacetylase 2.				Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGGCTGTGCTCTCAGGAGAGG	0.582000														8			21		0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64827280	64827280	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:64827280T>G	uc001ssb.3	+	18	2855	c.2349T>G	c.(2347-2349)aaT>aaG	p.N783K		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	783	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CAGAAGAAAATGACCAGTCTG	0.453000														158			38		0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127429458	127429458	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:127429458C>T	uc003ejx.3	-	5	676	c.531G>A	c.(529-531)ggG>ggA	p.G177G	MGLL_uc003ejw.3_Silent_p.G187G|MGLL_uc011bko.2_Intron|MGLL_uc003ejv.3_Silent_p.G151G	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	177					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						AGTCGATGGGCCCGAGGGACA	0.592000														6			3		0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57564120	57564120	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:57564120G>A	uc001nmc.4	+	5	1183	c.612G>A	c.(610-612)agG>agA	p.R204R	CTNND1_uc001nlf.2_Silent_p.R204R|CTNND1_uc021qjk.1_Silent_p.R204R|CTNND1_uc001nlh.1_Silent_p.R204R|CTNND1_uc001nlj.4_Silent_p.R150R|CTNND1_uc001nlq.4_Silent_p.R103R|CTNND1_uc001nlr.4_Silent_p.R150R|CTNND1_uc001nln.4_Silent_p.R204R|CTNND1_uc001nli.4_Silent_p.R204R|CTNND1_uc001nlo.4_Silent_p.R103R|CTNND1_uc001nlp.4_Silent_p.R150R|CTNND1_uc001nlu.4_Silent_p.R103R|CTNND1_uc001nlt.4_Silent_p.R103R|CTNND1_uc001nlv.4_Silent_p.R103R|CTNND1_uc001nls.4_Silent_p.R103R|CTNND1_uc001nlw.4_Silent_p.R103R|CTNND1_uc001nmf.4_Silent_p.R204R|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_Silent_p.R150R|CTNND1_uc001nlk.4_Silent_p.R150R|CTNND1_uc001nme.4_Silent_p.R204R|CTNND1_uc001nll.4_Silent_p.R150R|CTNND1_uc001nlm.4_Silent_p.R204R|CTNND1_uc001nmi.4_Silent_p.R103R|CTNND1_uc001nmg.4_Silent_p.R150R|CTNND1_uc001nmh.4_Silent_p.R204R	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	204					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCCTTCCTAGGAACTTCCACT	0.522000														176			77		0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65108530	65108530	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:65108530C>T	uc001odm.3	+	2	420	c.287C>T	c.(286-288)cCa>cTa	p.P96L	DPF2_uc010roe.2_Missense_Mutation_p.P96L	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	96					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTTTCCTTCCCATCTATTAAG	0.582000														31			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13786455	13786455	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:13786455T>C	uc003jfd.2	-	51	8695	c.8653A>G	c.(8653-8655)Aca>Gca	p.T2885A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2885					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)					TCTTCAGATGTTTCACCTTTG	0.353000									Kartagener syndrome					35			8		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813813	100813813	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:100813813G>A	uc010svi.2	+	11	1959	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	SLC17A8_uc009ztx.3_Missense_Mutation_p.G499E	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	549					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGTCTTATGGAGCCACCTCC	0.463000														30			17		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925303	54925303	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:54925303T>A	uc001sgc.4	+	23	2712	c.2633T>A	c.(2632-2634)cTt>cAt	p.L878H	NCKAP1L_uc010sox.2_Missense_Mutation_p.L420H|NCKAP1L_uc010soy.2_Missense_Mutation_p.L828H	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	878					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGGACATACTTGTTCAGATC	0.493000														103			80		0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149006709	149006709	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:149006709A>T	uc003lra.1	+	10	1599	c.1535A>T	c.(1534-1536)cAg>cTg	p.Q512L		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	512	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AAGCTGTACCAGGTGACAAGC	0.587000														170			4		0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33738920	33738920	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:33738920G>A	uc002hji.4	-	3	1551	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	SLFN12_uc002hjj.4_Missense_Mutation_p.P392S|SLFN12_uc010cts.3_Missense_Mutation_p.P392S	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	392							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTTTTCTGGAGTATACGTT	0.358000														70			24		0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406348	3406348	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:3406348G>A	uc002cuw.1	+	0	460	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCGCCATCATGAACCCCCAGC	0.607000														37			15		0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907408	11907408	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:11907408C>T	uc001ati.3	-	1	311	c.212G>A	c.(211-213)gGg>gAg	p.G71E	CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	71					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGCAGCCCCCGCTTCTTC	0.602000														58			16		0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3542860	3542860	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:3542860G>A	uc002lxw.3	-	9	1706	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	MFSD12_uc002lxx.3_Intron|MFSD12_uc010dtl.1_5'Flank|C19orf71_uc010xhm.2_Intron	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCCAGGCCAGGGGGGCTTCCC	0.632000														70			7		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205290681	205290681	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:205290681C>T	uc001hce.3	-	0	203	c.76G>A	c.(76-78)Ggg>Agg	p.G26R		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	26					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGATCAGCCCTTCCGCCAGC	0.672000														60			13		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072073	34072073	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:34072073G>A	uc002hjv.2	-	5	2471	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	815					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTCTCAACAGCCTGTCCTTG	0.632000														54			49		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582760	179582760	+	Missense_Mutation	SNP	T	C	C	rs72648984		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:179582760T>C	uc021vsy.1	-	82	21466	c.21241A>G	c.(21241-21243)Aaa>Gaa	p.K7081E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K3742E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8008	Ig-like 52.						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)			TGATCCACTTTGTTGATTACT	0.403000														163			45		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982920	92982920	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:92982920A>T	uc022axs.1	-	10	1869	c.1682T>A	c.(1681-1683)cTg>cAg	p.L561Q	RUNX1T1_uc003yfc.2_Missense_Mutation_p.L475Q|RUNX1T1_uc010mam.3_Missense_Mutation_p.L475Q|RUNX1T1_uc003yfe.2_Missense_Mutation_p.L465Q|RUNX1T1_uc003yfd.3_Missense_Mutation_p.L502Q|RUNX1T1_uc022axo.1_Missense_Mutation_p.L502Q|RUNX1T1_uc010mao.3_Missense_Mutation_p.L475Q|RUNX1T1_uc011lgi.2_Missense_Mutation_p.L513Q|RUNX1T1_uc022axp.1_Missense_Mutation_p.L502Q|RUNX1T1_uc022axq.1_Missense_Mutation_p.L502Q|RUNX1T1_uc022axr.1_Missense_Mutation_p.L502Q|RUNX1T1_uc022axt.1_Missense_Mutation_p.L502Q|RUNX1T1_uc022axu.1_Missense_Mutation_p.L482Q|RUNX1T1_uc022axv.1_Missense_Mutation_p.L502Q|RUNX1T1_uc010man.2_Missense_Mutation_p.L127Q|RUNX1T1_uc003yfb.2_Missense_Mutation_p.L465Q	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	502					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GATAACTGCCAGTGCGTCCTC	0.537000														21			32		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25262510	25262510	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr13:25262510C>T	uc010aaa.3	+	3	615	c.282C>T	c.(280-282)tcC>tcT	p.S94S	ATP12A_uc001upp.3_Silent_p.S94S	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	94					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGCCCAACTCCCTCACCCCTC	0.577000														185			166		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482547	140482547	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:140482547C>T	uc003lio.3	+	0	2314	c.2314C>T	c.(2314-2316)Ccc>Tcc	p.P772S	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	772					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCAATTATCCCCAACTTCGT	0.517000														30			48		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22293950	22293950	+	Splice_Site	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:22293950G>A	uc001wbw.2	+	2	62	c.53_splice	c.e2-1	p.R18_splice	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Splice_Site					SubName: Full=Alpha-chain C region; Flags: Fragment;																		TCTGAATAGGGGGGAATGGCA	0.443000														30			27		0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53755252	53755252	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:53755252G>A	uc001cvi.2	-	2	591	c.354C>T	c.(352-354)tcC>tcT	p.S118S	LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Silent_p.S118S|LRP8_uc001cvk.2_Silent_p.S118S|LRP8_uc001cvl.2_Silent_p.S118S	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	118	LDL-receptor class A 2.				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						AAGTGGCCTCGGACTCATCGG	0.602000														8			7		0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165248	50165248	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:50165248C>T	uc002poy.2	-	4	1958	c.939G>A	c.(937-939)aaG>aaA	p.K313K	IRF3_uc021uxp.1_Silent_p.K167K|IRF3_uc021uxq.1_Silent_p.K167K|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Silent_p.K313K|IRF3_uc021uxo.1_Silent_p.K278K|IRF3_uc002pou.3_Silent_p.K313K|IRF3_uc010end.2_Silent_p.K313K|IRF3_uc002poz.1_Silent_p.K313K	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	313	Involved in HERC5 binding.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CTTCCTTGTCCTTGGGGACCT	0.627000														200			65		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66131141	66131141	+	RNA	SNP	A	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:66131141A>G	uc002jgq.3	+	5		c.10264A>G								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		GGTCTCCAGGAGGTTGTGCAT	0.612000														13			7		0	0	1	0	0
PSMA5	5686	broad.mit.edu	37	1	109944642	109944642	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:109944642T>G	uc001dxn.3	-	8	837	c.719A>C	c.(718-720)gAc>gCc	p.D240A	PSMA5_uc010ovj.2_Missense_Mutation_p.D182A|PSMA5_uc021ord.1_Missense_Mutation_p.D182A|PSMA5_uc021ore.1_Missense_Mutation_p.D182A	NM_002790	NP_001186703	P28066	PSA5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.	240					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TCCTTAAATGTCCTTGATAAC	0.403000														88			28		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157505553	157505554	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:157505553_157505554CC>TT	uc003qqp.3	+	11	3495_3496	c.3495_3496CC>TT	c.(3493-3498)ctccag>ctTTag	p.Q1166*	ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q1179*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.Q1219*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1166					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCCCAAGCTCCAGCCGCCATC	0.614000														39			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13807752	13807752	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:13807752T>G	uc003jfd.2	-	46	7877	c.7835A>C	c.(7834-7836)cAc>cCc	p.H2612P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2612	AAA 3 (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)					CTTGATCATGTGACATTCAGG	0.378000									Kartagener syndrome					19			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061069	9061069	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:9061069G>A	uc002mkp.3	-	2	26581	c.26377C>T	c.(26377-26379)Cat>Tat	p.H8793Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8795	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						GCCCCAGAATGACCTGTTTTG	0.502000														74			67		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42189112	42189112	+	Splice_Site	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr13:42189112C>T	uc001uyj.3	-	38	4790	c.4720_splice	c.e38+1	p.G1574_splice		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1574						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGCTACCAACCTGTTCCGCCA	0.582000														17			24		0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31382819	31382819	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:31382819T>C	uc001wqu.2	-	9	1501	c.1285A>G	c.(1285-1287)Atg>Gtg	p.M429V	STRN3_uc001wqv.2_Missense_Mutation_p.M345V|STRN3_uc010tpj.1_Intron	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	429					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.V429A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TCAGAACCCATAATAAATGAC	0.383000														146			33		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653438	159653438	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:159653438C>T	uc010kjv.3	+	10	2094	c.1894C>T	c.(1894-1896)Cgt>Tgt	p.R632C	FNDC1_uc010kjw.1_Missense_Mutation_p.R517C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	632						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACCTCTCATCGTCCTTCCCT	0.677000														36			32		0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48730417	48730417	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:48730417C>T	uc003cuq.3	-	2	859	c.398G>A	c.(397-399)cGt>cAt	p.R133H	IP6K2_uc003cup.3_Missense_Mutation_p.R133H	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	133					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACGGTGCTGACGCACCCAGTC	0.463000														186			57		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498876	9498876	+	Splice_Site	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:9498876G>A	uc002wni.2	+	5	1159	c.664_splice	c.e5+1	p.E222_splice	LAMP5_uc010zrc.2_Splice_Site_p.E178_splice	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	222						integral to membrane											TTCAGTGAAGGTAAGTTGTTG	0.493000														14			20		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139609	178139609	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:178139609G>A	uc003mjj.3	-	4	1468	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	424					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CTATTAAGTCGTGAAATAGAA	0.383000														59			15		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99968068	99968068	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:99968068C>A	uc001kox.4	+	4	547	c.197C>A	c.(196-198)cCg>cAg	p.P66Q	C10orf28_uc001kow.4_Missense_Mutation_p.P66Q|C10orf28_uc001koy.4_Missense_Mutation_p.P66Q|C10orf28_uc009xvx.3_Missense_Mutation_p.P66Q|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	66							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		AAAGACAAACCGGAGGCTCGA	0.368000														72			24		9.57634e-11	9.87694e-11	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745537	77745537	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:77745537C>T	uc002snr.3	-	2	1873	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	LRRTM4_uc002snq.3_Silent_p.V486V|LRRTM4_uc002sns.2_Silent_p.V486V|LRRTM4_uc002snt.2_Silent_p.V487V	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	486						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTTGTAGTCCACATAATACT	0.458000														38			8		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585319	7585319	+	Silent	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:7585319T>C	uc003mxp.1	+	23	8103	c.7824T>C	c.(7822-7824)tcT>tcC	p.S2608S	DSP_uc003mxq.1_Silent_p.S2009S|DSP_uc021yle.1_Silent_p.S2165S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2608	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAGCAGCTCTTTTTCAGACA	0.463000														50			93		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86622031	86622031	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:86622031C>T	uc001dlj.3	-	0	124	c.49G>A	c.(49-51)Gca>Aca	p.A17T	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.A17T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	17					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TACGTTTTTGCCGTGGGGGAG	0.542000														174			4		0	0	1	0	0
DKKL1	27120	broad.mit.edu	37	19	49878176	49878176	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:49878176G>A	uc002pnk.3	+	4	834	c.620G>A	c.(619-621)gGg>gAg	p.G207E	DKKL1_uc021uxk.1_Missense_Mutation_p.G132E|DKKL1_uc021uxl.1_Missense_Mutation_p.G176E	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	207					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTCCGCAAGGGGACCCACAAG	0.667000														32			27		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121482100	121482100	+	Silent	SNP	G	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:121482100G>T	uc003pyo.1	-	22	2741	c.2673C>A	c.(2671-2673)ctC>ctA	p.L891L	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'UTR|C6orf170_uc003pyp.1_Silent_p.L451L	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	891					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TCACCTTTTCGAGTAACCTCG	0.398000														21			33		5.04308e-16	5.3085e-16	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33147551	33147552	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:33147551_33147552CC>TG	uc003ocx.1	-	12	1618_1619	c.1390_1391GG>CA	c.(1390-1392)ggc>CAc	p.G464H	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.G378H|COL11A2_uc003ocz.1_Missense_Mutation_p.G357H	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	464	Nonhelical 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						CACCACAGGGCCCTTGTCACCC	0.644000														94			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048950	9048950	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:9048950G>A	uc002mkp.3	-	4	32885	c.32681C>T	c.(32680-32682)cCa>cTa	p.P10894L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10896	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						AGTCAGAATTGGAATAGTTGT	0.483000														130			31		0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39212329	39212329	+	Splice_Site	SNP	G	A	A	rs111813739		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:39212329G>A	uc002oja.2	+	12	1561	c.1442_splice	c.e12+1	p.N481_splice	ACTN4_uc010egc.2_Silent_p.K481K|ACTN4_uc021uug.1_Splice_Site_p.N262_splice	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	481					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGAGCTCAAGTACGTGCGGG	0.652000														57			21		0	0	1	0	0
CD151	977	broad.mit.edu	37	11	836823	836823	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:836823G>A	uc001lry.3	+	4	475	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	CD151_uc001lrx.3_Non-coding_Transcript|CD151_uc001lrz.3_Missense_Mutation_p.A111T|CD151_uc001lsa.3_Missense_Mutation_p.A111T|CD151_uc001lsb.3_Missense_Mutation_p.A111T	NM_004357	NP_620599	P48509	CD151_HUMAN	Homo sapiens CD151 molecule (Raph blood group) (CD151), transcript variant 1, mRNA.	111					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTATCCTCGCCTACGCCTA	0.602000														25			13		0	0	1	0	0
MAGOHB	55110	broad.mit.edu	37	12	10766047	10766047	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:10766047G>A	uc001qyq.2	-	0	162	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	MAGOHB_uc001qyr.2_Non-coding_Transcript	NM_018048	NP_060518	Q96A72	MGN2_HUMAN	Homo sapiens mago-nashi homolog B (Drosophila) (MAGOHB), mRNA.	29					RNA splicing|mRNA processing|mRNA transport	nucleus	RNA binding			breast(2)|large_intestine(2)	4						CCGTCCGGCCGAAATTCGAAC	0.617000														110			34		0	0	1	0	0
RANGRF	29098	broad.mit.edu	37	17	8192610	8192610	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:8192610G>A	uc002gkv.3	+	2	367	c.229G>A	c.(229-231)Gct>Act	p.A77T	SLC25A35_uc002gkt.3_Intron|SLC25A35_uc002gku.1_3'UTR|RANGRF_uc002gky.3_Missense_Mutation_p.A77T|RANGRF_uc002gkx.3_Missense_Mutation_p.A77T|RANGRF_uc002gkw.3_Missense_Mutation_p.A77T|SLC25A35_uc002gkz.1_Non-coding_Transcript	NM_016492	NP_057576	Q9HD47	MOG1_HUMAN	Homo sapiens RAN guanine nucleotide release factor (RANGRF), transcript variant 1, mRNA.	77					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						CGTGCAGGGGGCTAGGGCTGT	0.597000														44			54		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5990146	5990146	+	RNA	SNP	C	T	T	rs142834094	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:5990146C>T	uc003git.2	-	0		c.1229G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TCTCCTCTTTCTCCAAATGTG	0.537000														9			10		0	0	1	0	0
CDKN2B	1030	broad.mit.edu	37	9	22006193	22006193	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:22006193C>T	uc003zpo.3	-	1	570	c.210G>A	c.(208-210)gcG>gcA	p.A70A	MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.	70					G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|cell cycle arrest|cellular response to nutrient|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		AGTTGGGCTCCGCGCCGTGGA	0.697000														38			10		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47947802	47947802	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:47947802C>T	uc003tny.2	-	8	1308	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	425					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACTTCGGTTCCATGAAACTC	0.418000														34			42		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99690928	99690928	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:99690928C>T	uc003usw.1	-	13	2455	c.1945G>A	c.(1945-1947)Ggg>Agg	p.G649R	MCM7_uc003usv.1_Missense_Mutation_p.G473R|MCM7_uc003usx.1_Missense_Mutation_p.G473R|DD413568_uc022aif.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	649	Interaction with ATRIP.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCTGTCTGCCCCTTGTCTCCT	0.483000														224			36		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10247210	10247210	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:10247210C>T	uc002gmk.1	-	15	1891	c.1801G>A	c.(1801-1803)Gac>Aac	p.D601N	MYH13_uc010vvf.1_Missense_Mutation_p.D276N	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	601	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCAGGGGGTCCTTGTTTTTG	0.552000														34			38		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071105	9071105	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:9071105C>T	uc002mkp.3	-	2	16545	c.16341G>A	c.(16339-16341)tcG>tcA	p.S5447S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5449	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						GTGTGGCTTTCGATGTCTCTG	0.493000														225			49		0	0	1	0	0
UBXN2A	165324	broad.mit.edu	37	2	24194228	24194228	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:24194228G>T	uc010exy.3	+	3	592	c.124G>T	c.(124-126)Gag>Tag	p.E42*	UBXN2A_uc002rem.3_Non-coding_Transcript|UBXN2A_uc002ren.3_Nonsense_Mutation_p.E42*|UBXN2A_uc010ykj.2_Nonsense_Mutation_p.E42*	NM_181713	NP_859064	P68543	UBX2A_HUMAN	Homo sapiens UBX domain protein 2A (UBXN2A), mRNA.	42										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TAGCCTTTTTGAGGAAGCTCA	0.333000														84			37		3.76114e-14	3.94105e-14	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142574936	142574936	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:142574936C>A	uc003wbx.2	-	3	675	c.446G>T	c.(445-447)gGc>gTc	p.G149V	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.G20V	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	149					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.G149V(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAAGGCAGTGCCTGTGGCTCT	0.617000														159			30		2.61193e-14	2.74312e-14	1	1	0
IRF5	3663	broad.mit.edu	37	7	128582271	128582271	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:128582271C>T	uc003voh.3	+	1	257	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	IRF5_uc010llr.1_Missense_Mutation_p.P46S|IRF5_uc011kot.1_Missense_Mutation_p.P46S|IRF5_uc011kou.1_Missense_Mutation_p.P46S|IRF5_uc010lls.1_Missense_Mutation_p.P46S|IRF5_uc003vog.3_Missense_Mutation_p.P46S|IRF5_uc010llt.3_Missense_Mutation_p.P46S|IRF5_uc003voi.3_Missense_Mutation_p.P46S|IRF5_uc010llu.1_Missense_Mutation_p.P46S|IRF5_uc003vok.2_Missense_Mutation_p.P46S|IRF5_uc003voj.4_Missense_Mutation_p.P46S|IRF5_uc010llv.1_Missense_Mutation_p.P46S|IRF5_uc010llw.1_Missense_Mutation_p.P46S	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	46					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						ATTCTGCATCCCCTGGAGGCA	0.617000														83			66		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121444982	121444982	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:121444982C>T	uc001pxx.3	+	23	3499	c.3370C>T	c.(3370-3372)Cgt>Tgt	p.R1124C	SORL1_uc010rzp.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1124	LDL-receptor class A 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CACCCAGTTTCGTTGCCAGGA	0.438000														81			35		0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	25014063	25014063	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:25014063C>T	uc004dbl.3	+	36	4400	c.4385C>T	c.(4384-4386)tCc>tTc	p.S1462F		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	1462					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GCCGTGAAATCCTAAGGGAAT	0.498000														5			14		0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79495838	79495838	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:79495838C>T	uc010wuo.2	+	0	422	c.281C>T	c.(280-282)cCg>cTg	p.P94L	FSCN2_uc010wup.2_Missense_Mutation_p.P94L	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	94					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGGTCCTGCCGCAGCCAGAT	0.716000														3			5		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	Silent	SNP	T	C	C	rs140267598	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:142481789T>C	uc011ksq.2	+	3	551	c.468T>C	c.(466-468)gaT>gaC	p.D156D	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ACTACCCAGATGAGCTGCAGT	0.488000														90			4		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276334	153276334	+	Splice_Site	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:153276334C>A	uc001fbn.1	-	4	582	c.529_splice	c.e4+1	p.V177_splice		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	177					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGTCTTACCCTTCCTGGGCA	0.532000														49			111		1.81142e-54	1.95142e-54	1	1	0
SERPINI1	5274	broad.mit.edu	37	3	167512427	167512427	+	Silent	SNP	C	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:167512427C>G	uc003ffa.4	+	4	894	c.696C>G	c.(694-696)tcC>tcG	p.S232S	SERPINI1_uc003ffb.4_Silent_p.S232S	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	232					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GTGATGGCTCCAATGAAGCTG	0.403000														45			11		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507120	74507120	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:74507120C>T	uc001dfy.4	-	6	1687	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	499										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GCTTTTCTCTCTCTAGCTTTT	0.338000														63			26		0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34649004	34649005	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:34649004_34649005CC>TT	uc003zve.3	+	8	897_898	c.830_831CC>TT	c.(829-831)tcc>tTT	p.S277F	GALT_uc003zvf.3_Missense_Mutation_p.S168F|GALT_uc011lop.1_3'UTR|IL11RA_uc003zvi.3_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	277					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GATCTAGCCTCCATCATGAAGA	0.515000									Galactosemia					134			94		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77762249	77762249	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:77762249G>A	uc003ugx.3	-	17	3414	c.3160C>T	c.(3160-3162)Cca>Tca	p.P1054S	MAGI2_uc003ugy.3_Missense_Mutation_p.P1040S|MAGI2_uc010ldx.1_Missense_Mutation_p.P647S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1054	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding	p.Q1053Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGTGGTGCTGGCTGGGCGATG	0.582000														475			103		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123779112	123779112	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:123779112C>T	uc010nqy.3	-	9	1821	c.1757G>A	c.(1756-1758)gGg>gAg	p.G586E	ODZ1_uc011muj.2_Missense_Mutation_p.G585E|ODZ1_uc004euj.3_Missense_Mutation_p.G586E	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	586	EGF-like 2.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ACACTCTGGCCCCTTCCAGCC	0.522000														68			200		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554032	140554032	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:140554032C>T	uc003lit.3	+	0	1790	c.1616C>T	c.(1615-1617)cCc>cTc	p.P539L		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	539	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P539T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGGCTCCCCCGCGCTGAGC	0.692000														124			48		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196311216	196311216	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:196311216G>A	uc001gtd.1	-	14	1606	c.1546C>T	c.(1546-1548)Cac>Tac	p.H516Y	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Missense_Mutation_p.H516Y|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.H516Y|KCNT2_uc001gth.1_Missense_Mutation_p.H37Y	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	516	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TACTTTTTGTGTGCATGGAAA	0.323000														53			7		0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42647664	42647664	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:42647664G>A	uc001che.3	-	13	1989	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	FOXJ3_uc001chf.3_Silent_p.L559L|FOXJ3_uc001chh.2_Silent_p.L525L|FOXJ3_uc001chg.3_Silent_p.L559L	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	559					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGAAGGAGGGAGATTTTGCC	0.428000														16			8		0	0	1	0	0
AIF1	199	broad.mit.edu	37	6	31583327	31583327	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:31583327C>A	uc003nuy.3	+	1	129	c.55C>A	c.(55-57)Cag>Aag	p.Q19K	AIF1_uc010jsy.3_5'UTR|AIF1_uc003nva.3_5'Flank	NM_001623	NP_116573	P55008	AIF1_HUMAN	Homo sapiens allograft inflammatory factor 1 (AIF1), transcript variant 3, mRNA.	19					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						GCTGAAGGCCCAGCAGGAAGA	0.577000														40			17		3.52763e-06	3.58214e-06	1	1	0
NHSL2	340527	broad.mit.edu	37	X	71360307	71360307	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:71360307G>C	uc011mqa.2	+	5	2909	c.2909G>C	c.(2908-2910)aGt>aCt	p.S970T	NHSL2_uc004eak.1_Missense_Mutation_p.S604T|NHSL2_uc010nli.2_Missense_Mutation_p.S739T	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	970										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCCCAGGGAAGTGTAGAGGAC	0.537000														16			4		0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140374050	140374051	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:140374050_140374051CC>TT	uc003vvy.1	+	0	1098_1099	c.920_921CC>TT	c.(919-921)tcc>tTT	p.S307F	ADCK2_uc003vvz.3_Missense_Mutation_p.S307F	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	307	Protein kinase.		S -> P (in dbSNP:rs1140034).			integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AACCTCATCTCCGTGGCAGTGA	0.554000														98			22		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52307352	52307352	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:52307352C>T	uc001rzj.3	+	3	606	c.323C>T	c.(322-324)cCt>cTt	p.P108L	ACVRL1_uc001rzk.3_Missense_Mutation_p.P108L|ACVRL1_uc010snm.2_Intron	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	108					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GCCACCCAACCTCCTTCGGAG	0.677000														14			17		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132490671	132490671	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:132490671C>T	uc001ujn.3	+	13	3102	c.2950C>T	c.(2950-2952)Cca>Tca	p.P984S	EP400_uc021rgq.1_Missense_Mutation_p.P983S|EP400_uc001ujm.3_Missense_Mutation_p.P984S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1020	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGATGACTGTCCAGGCGACAG	0.428000														53			6		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408594	40408594	+	Silent	SNP	G	A	A	rs141092836		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:40408594G>A	uc002omp.4	-	7	4253	c.4245C>T	c.(4243-4245)ttC>ttT	p.F1415F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1415	VWFD 3.					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)			AGGAGTTGCCGAACTCATTGG	0.632000														73			23		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79767502	79767502	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:79767502C>G	uc001jzn.3	-	14	2165	c.2032G>C	c.(2032-2034)Gat>Cat	p.D678H		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	678					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GACATGGCATCTGCAGCTTCA	0.468000														51			17		0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4364187	4364187	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:4364187C>A	uc002maj.3	-	4	563	c.363G>T	c.(361-363)atG>atT	p.M121I	SH3GL1_uc002mak.3_Intron|SH3GL1_uc010xig.2_Missense_Mutation_p.M73I	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	121	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCAGGCGCTTCATGGACTCGC	0.587000			T	MLL	AL									75			25		3.28513e-13	3.41891e-13	1	1	0
PLEKHA5	54477	broad.mit.edu	37	12	19410385	19410385	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:19410385A>G	uc001reb.3	+	5	559	c.451A>G	c.(451-453)Aaa>Gaa	p.K151E	PLEKHA5_uc010sie.2_Missense_Mutation_p.K151E|PLEKHA5_uc001rea.3_Missense_Mutation_p.K151E|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Missense_Mutation_p.K43E|PLEKHA5_uc010sih.1_Missense_Mutation_p.K43E|PLEKHA5_uc021qvy.1_Missense_Mutation_p.K43E	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	151							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGCTTCAAAAAAAGTTCATAA	0.318000														47			29		0	0	1	0	0
SNRPD2	6633	broad.mit.edu	37	19	46190861	46190861	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:46190861C>A	uc002pcw.3	-	2	604	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W	SNRPD2_uc002pcv.3_Missense_Mutation_p.G93W	NM_004597	NP_808210	P62316	SMD2_HUMAN	Homo sapiens small nuclear ribonucleoprotein D2 polypeptide 16.5kDa (SNRPD2), transcript variant 1, mRNA.	103					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		ACTGAGTCCCCGCGCAGGAAC	0.572000														54			38		1.04594e-18	1.11116e-18	1	1	0
PTBP1	5725	broad.mit.edu	37	19	808727	808727	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:808727C>T	uc002lpr.2	+	11	1456	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	PTBP1_uc002lps.2_Silent_p.F116F|PTBP1_uc002lpp.2_Silent_p.F476F|PTBP1_uc002lpq.2_Silent_p.F469F	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	450					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		AGAACATATTCCCGCCCTCGG	0.672000														34			10		0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122728717	122728717	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:122728717C>T	uc003iea.3	+	5	653	c.545C>T	c.(544-546)cCt>cTt	p.P182L	EXOSC9_uc003idz.3_Missense_Mutation_p.P182L|EXOSC9_uc003ieb.3_Missense_Mutation_p.P166L|EXOSC9_uc010inp.1_Non-coding_Transcript	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	182	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAGCGTGATCCTGTACCATTA	0.363000														45			37		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675465	7675465	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:7675465C>T	uc002mgu.4	+	7	1046	c.945C>T	c.(943-945)tcC>tcT	p.S315S	CAMSAP3_uc002mgv.4_Silent_p.S288S	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	288					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	p.L314Q(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCCCCTGTCCCTTGAGGACT	0.647000														164			53		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49236621	49236621	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:49236621G>A	uc010zyt.2	-	2	422	c.171C>T	c.(169-171)tcC>tcT	p.S57S	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.S53S|FAM65C_uc002xvn.1_Silent_p.S53S	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	53										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACATCTTGGAGGATTTTGCAG	0.542000														130			16		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188954	98188954	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:98188954C>T	uc003dsm.3	+	0	534	c.534C>T	c.(532-534)taC>taT	p.Y178Y		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCACTTTTACTGTGATATTC	0.398000														171			116		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187822	121187822	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:121187822C>T	uc003kss.3	+	0	173	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	55					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCCGCCTCCTCCCGGGACCCT	0.761000														11			14		0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149245639	149245639	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:149245639C>T	uc003exf.3	-	4	1229	c.889G>A	c.(889-891)Gat>Aat	p.D297N	WWTR1_uc003exe.3_Missense_Mutation_p.D297N|WWTR1_uc021xfm.1_Missense_Mutation_p.D297N|WWTR1_uc003exh.3_Missense_Mutation_p.D297N	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	297					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGGAAAGGATCTGAGCTATTA	0.428000			T	CAMTA1	epitheliod hemangioendothelioma									368			59		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30008956	30008956	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:30008956T>C	uc001zcr.3	-	22	4536	c.4061A>G	c.(4060-4062)tAt>tGt	p.Y1354C	TJP1_uc010azl.3_Missense_Mutation_p.Y1342C|TJP1_uc001zcq.3_Missense_Mutation_p.Y1278C|TJP1_uc001zcs.3_Missense_Mutation_p.Y1274C	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1354					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTTTCGATAATATTCTTCATC	0.448000														28			25		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73062598	73062598	+	RNA	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:73062598G>A	uc004ebm.1	-	0		c.9991C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CAAGAGAAAGGGCCTTGTCTG	0.468000														9			20		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778846	36778846	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:36778846C>T	uc003cgi.2	-	1	1796	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	435	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTCTCCTCCCTGCACGTACT	0.498000														85			22		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67698933	67698933	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:67698933C>T	uc001stn.2	+	9	1922	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	CAND1_uc001sto.2_Intron	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	495					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATTTGAAGATCGATGCTTTGT	0.398000														94			26		0	0	1	0	0
KCNJ13	3769	broad.mit.edu	37	2	233633146	233633146	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:233633146C>T	uc002vto.3	-	1	881	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_3'UTR|KCNJ13_uc002vtp.3_Missense_Mutation_p.E280K|KCNJ13_uc021vyk.1_Missense_Mutation_p.E200K	NM_001172417	NP_001165888	O60928	IRK13_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.	280						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGGCATATTTCTCCAGTGCCC	0.433000														155			38		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292675	6292675	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:6292675C>T	uc001mcp.3	+	4	1501	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	CCKBR_uc001mcq.3_Missense_Mutation_p.R344C|CCKBR_uc001mcr.3_Missense_Mutation_p.R399C|CCKBR_uc001mcs.3_Missense_Mutation_p.R485C	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	416					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)	TCCACGAGCTCGCCCCAGGGC	0.652000														54			25		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380991	147380991	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:147380991G>A	uc021ovm.1	+	0	909	c.909G>A	c.(907-909)aaG>aaA	p.K303K	GJA8_uc001epu.2_Silent_p.K303K	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	303					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCGAGGAGAAGATCAGCACAG	0.587000														29			23		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81239560	81239560	+	Silent	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:81239560T>C	uc001szj.1	-	3	625	c.432A>G	c.(430-432)gaA>gaG	p.E144E	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	144	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CTCCGTGTCTTTCAGCCACCC	0.433000														65			23		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54723007	54723007	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:54723007T>A	uc010erh.1	-	8	1592	c.1468A>T	c.(1468-1470)Agg>Tgg	p.R490W	LILRB3_uc002qee.1_Missense_Mutation_p.R473W|LILRB3_uc002qef.1_Missense_Mutation_p.R473W|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.R473W|LILRB3_uc002qeh.1_Missense_Mutation_p.R473W|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.R473W|LILRB3_uc002qek.1_Missense_Mutation_p.R473W|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.R473W|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.R473W|LILRB3_uc002qep.1_Missense_Mutation_p.R473W|LILRB3_uc002qeq.1_Missense_Mutation_p.R473W	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	473					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGATGTCCTGTGTTTGCTG	0.597000														70			21		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549307	58549307	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:58549307G>A	uc002qrc.1	+	2	350	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	ZSCAN1_uc002qra.1_Missense_Mutation_p.E35K|ZSCAN1_uc002qrb.1_Missense_Mutation_p.E35K	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGGGACACCGAAGCCCAGCG	0.716000														32			14		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897092	23897092	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:23897092G>A	uc001wjx.3	-	15	1696	c.1590C>T	c.(1588-1590)atC>atT	p.I530I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	530	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGATGGACATGATGCCCATGG	0.537000														55			16		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121485604	121485604	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:121485604C>T	uc001pxx.3	+	40	5573	c.5444C>T	c.(5443-5445)tCc>tTc	p.S1815F	SORL1_uc010rzp.1_Missense_Mutation_p.S661F|SORL1_uc010rzq.1_Missense_Mutation_p.S430F	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1815	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCTCATACATCCTATGAGATT	0.507000														39			15		0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14307321	14307321	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:14307321G>A	uc022bdo.1	-	1	764	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	NFIB_uc003zlf.3_Missense_Mutation_p.L77F|NFIB_uc003zle.3_Missense_Mutation_p.L77F|NFIB_uc022bdp.1_Missense_Mutation_p.L103F|NFIB_uc011lmo.2_Missense_Mutation_p.L77F	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	77					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGTTTGGCAAGGAGCCTGGAT	0.483000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""									92			18		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111898453	111898453	+	Silent	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:111898453T>C	uc003dyu.3	-	22	3066	c.2844A>G	c.(2842-2844)ggA>ggG	p.G948G	SLC9C1_uc011bhu.2_Silent_p.G211G|SLC9C1_uc010hqc.3_Silent_p.G900G	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	948					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTATTATTTCTCCACTGAGCA	0.383000														81			11		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31531775	31531775	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr22:31531775G>A	uc003aka.3	-	6	1593	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	488					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCAGGCACTGGTTGTAGAATG	0.602000														44			124		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071199	70071199	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:70071199T>G	uc010kak.3	+	27	4310	c.4034T>G	c.(4033-4035)gTa>gGa	p.V1345G	BAI3_uc003pev.4_Missense_Mutation_p.V1345G|BAI3_uc011dxx.2_Missense_Mutation_p.V551G	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1345					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CACTACAAAGTAAACCCTGAA	0.408000														34			58		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047244	67047244	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:67047244C>T	uc003xvv.3	+	2	587	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	TRIM55_uc003xvu.3_Nonsense_Mutation_p.Q121*|TRIM55_uc003xvw.3_Nonsense_Mutation_p.Q121*|TRIM55_uc003xvx.3_Nonsense_Mutation_p.Q121*	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	121						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)			GAAATCCGACCAGCCCATGTG	0.522000														34			28		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798510	140798510	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:140798510C>T	uc003lkn.2	+	0	1251	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.P362S|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	365	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATTCCCCTCCAGGAGTGGT	0.443000														23			28		0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86794313	86794313	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:86794313T>G	uc003uih.3	+	2	382	c.56T>G	c.(55-57)gTg>gGg	p.V19G	DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Intron|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.V19G|DMTF1_uc003uim.1_Missense_Mutation_p.V19G|DMTF1_uc003uin.3_5'UTR	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	19	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GTGAACTCTGTGACTTTGACT	0.398000														28			10		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295565	29295565	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:29295565C>T	uc002rmt.2	-	0	1563	c.1563G>A	c.(1561-1563)cgG>cgA	p.R521R		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	521					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ATGGGCTTTCCCGGTCAGCAG	0.527000														111			25		0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107224452	107224452	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:107224452G>A	uc004enn.1	-	2	890	c.797C>T	c.(796-798)tCc>tTc	p.S266F		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	266										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGCTGGACAGGAAGAGGCTCC	0.527000														110			58		0	0	1	0	0
FAM48B1	100130302	broad.mit.edu	37	X	24380989	24380989	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:24380989G>A	uc011mjx.2	+	0	112	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						AACTCTGCAGGAAAAACTTTA	0.418000														15			27		0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27325020	27325020	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:27325020G>A	uc010eyr.2	-	3	658	c.653C>T	c.(652-654)tCc>tTc	p.S218F	CGREF1_uc010ylf.2_5'UTR|CGREF1_uc021vez.1_Missense_Mutation_p.S96F|CGREF1_uc002riq.3_Missense_Mutation_p.S96F|CGREF1_uc021vfa.1_Missense_Mutation_p.S96F|CGREF1_uc010eys.2_Missense_Mutation_p.S96F|CGREF1_uc002rir.2_Missense_Mutation_p.S96F	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	96					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCAACATGGACAGCAGCTC	0.552000														48			13		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862499	14862499	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:14862499G>A	uc003bzc.3	+	0	2031	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	FGD5_uc011avk.2_Missense_Mutation_p.D641N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	641					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.P640T(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GATCGAGAGCGACTCCCCGGA	0.512000														55			16		0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55052314	55052314	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:55052314G>A	uc004dua.4	-	1	258	c.120C>T	c.(118-120)atC>atT	p.I40I	ALAS2_uc004dub.4_Silent_p.I64I|ALAS2_uc004dud.4_Silent_p.I40I	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	40					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGGTAGCCAGGATGGGACAGC	0.542000														32			13		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272081	233272081	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:233272081G>A	uc002vss.4	+	2	323	c.270G>A	c.(268-270)atG>atA	p.M90I		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	90					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCCTGGCCATGGACCGCTTCC	0.572000														65			12		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89413823	89413823	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:89413823G>A	uc001pda.3	+	7	1021	c.495G>A	c.(493-495)ttG>ttA	p.L165L		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	165					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGTACAGCTTGGTATACAACC	0.279000														29			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179581978	179581978	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:179581978C>T	uc021vsy.1	-	84	21976	c.21751G>A	c.(21751-21753)Gag>Aag	p.E7251K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3912K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8178	Ig-like 54.						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)			GGGCGAATCTCTCGGTTATCT	0.463000														40			25		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923405	159923405	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:159923405C>T	uc001fus.3	-	1	202	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	SLAMF9_uc009wtd.3_Missense_Mutation_p.E29K|SLAMF9_uc001fut.3_Missense_Mutation_p.E29K	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	29						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAACCACTTCCTCGGATCCA	0.532000														94			22		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331787	107331787	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr9:107331787G>T	uc011lvo.2	+	0	339	c.339G>T	c.(337-339)atG>atT	p.M113I		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112C(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CGGAGTGCATGATCTTAGGCA	0.502000														92			23		1.96895e-08	2.0127e-08	1	1	0
CHST7	56548	broad.mit.edu	37	X	46434386	46434386	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:46434386C>T	uc022bvm.1	+	0	1020	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	CHST7_uc004dgt.3_Silent_p.F340F	NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 (CHST7), mRNA.	340					N-acetylglucosamine metabolic process|chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity|chondroitin 6-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						ccgATTTCTTCCTGACCGGTG	0.756000														5			6		0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176831286	176831286	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:176831286C>T	uc003mgo.4	-	8	978	c.929G>A	c.(928-930)aGg>aAg	p.R310K		NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	310	Pro-rich.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACATGAAGCCTAGGGGACAC	0.697000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			8		0	0	1	0	0
UCN3	114131	broad.mit.edu	37	10	5415704	5415704	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:5415704C>T	uc001ihx.1	+	1	245	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_053049	NP_444277	Q969E3	UCN3_HUMAN	Homo sapiens urocortin 3 (stresscopin) (UCN3), mRNA.	7						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						CGGTCCACTTCCTGCTGCTCC	0.612000														43			115		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551136	248551136	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:248551136C>T	uc001iei.1	+	0	227	c.227C>T	c.(226-228)aCc>aTc	p.T76I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	76					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)			TACATCTCCACCATTGTGCCC	0.507000														44			67		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711759	155711759	+	Silent	SNP	A	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:155711759A>T	uc002tyv.1	+	2	1635	c.1440A>T	c.(1438-1440)ggA>ggT	p.G480G	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	480					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TGGCTGGAGGAGCAGCTAGGA	0.423000														31			7		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417988	150417988	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:150417988C>T	uc003whq.3	+	2	1036	c.896C>T	c.(895-897)gCc>gTc	p.A299V	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TGGTCGGAGGCCGTTGCGGAG	0.617000														25			21		0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109473	228109473	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:228109473G>A	uc001hri.2	-	3	932	c.844C>T	c.(844-846)Ccg>Tcg	p.P282S		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	282					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CGGGGCAGCGGGTCGCTGCCA	0.711000														29			49		0	0	1	0	0
C12orf52	84934	broad.mit.edu	37	12	113629450	113629450	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:113629450C>G	uc001tur.1	+	3	1106	c.638C>G	c.(637-639)cCa>cGa	p.P213R		NM_032848	NP_116237	Q96K30	RITA_HUMAN	Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA.	213	Interaction with tubulin.				Notch signaling pathway|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						ACTGGTCATCCAGCCACCAGT	0.607000														60			19		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118772216	118772217	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr11:118772216_118772217GG>AA	uc001pug.3	-	5	3200_3201	c.2235_2236CC>TT	c.(2233-2238)ggccgg>ggTTgg	p.R746W	BCL9L_uc009zal.3_Missense_Mutation_p.R741W	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	746	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGAGGCCCCGGCCTCCACCAA	0.634000														91			36		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240048223	240048223	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:240048223G>A	uc002vyk.4	-	11	2239	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	HDAC4_uc010fyz.1_Nonsense_Mutation_p.Q478*|HDAC4_uc010zoa.1_Nonsense_Mutation_p.Q483*|HDAC4_uc010fza.2_Nonsense_Mutation_p.Q488*|HDAC4_uc010fyy.3_Nonsense_Mutation_p.Q440*|HDAC4_uc010znz.1_Nonsense_Mutation_p.Q366*|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	483					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		tgctgctgctgGATGACCAGG	0.647000														13			12		0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274903	51274903	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:51274903C>T	uc010ycf.2	+	0	1046	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	349						integral to plasma membrane	N-formyl peptide receptor activity	p.C348Y(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCATCCTGTCCCCGTGGCAAC	0.522000														117			5		0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16630476	16630476	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:16630476C>T	uc002nei.1	-	15	2587	c.2513G>A	c.(2512-2514)aGg>aAg	p.R838K	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_Intron|C19orf44_uc010eai.1_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.R377K	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	838					RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TTCTCCGAGCCTTGAGTCAGG	0.532000														155			39		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56531747	56531747	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:56531747C>T	uc002qmj.3	+	5	629	c.629C>T	c.(628-630)tCa>tTa	p.S210L	NLRP5_uc002qmi.3_Missense_Mutation_p.S191L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	210						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCAGAAATTTCACAAGCTATG	0.408000														25			25		0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26233279	26233279	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:26233279C>T	uc003sxr.4	-	8	1009	c.793G>A	c.(793-795)Gga>Aga	p.G265R	HNRNPA2B1_uc003sxs.4_Missense_Mutation_p.G253R	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	265	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCTCCTCTTCCTCCTCCATAA	0.443000			T	ETV1	prostate									89			50		0	0	1	0	0
BCKDHB	594	broad.mit.edu	37	6	80877487	80877487	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:80877487G>A	uc003pjd.2	+	3	503	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	BCKDHB_uc003pje.2_Missense_Mutation_p.E146K	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	146					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TGCCATTGCGGAAATTCAGTT	0.363000														13			20		0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150387045	150387045	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:150387045G>A	uc003qns.3	-	1	423	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ULBP3_uc011eej.1_5'Flank|ULBP3_uc011eek.1_Silent_p.F65F	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	114	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CACTGGGTGTGAAATCCTCCA	0.542000														75			24		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466576	131466576	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:131466576C>T	uc010tbm.2	+	5	1113	c.554C>T	c.(553-555)tCc>tTc	p.S185F	GPR133_uc001uit.4_Missense_Mutation_p.S153F	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	153					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V184I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGGGACAATTCCATGACATGG	0.592000														73			15		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685155	44685155	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:44685155C>T	uc010zxl.1	+	22	3207	c.3131C>T	c.(3130-3132)cCc>cTc	p.P1044L	SLC12A5_uc002xrb.2_Missense_Mutation_p.P1021L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	1044					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)	AATAAGGGCCCCAGTCCTGTC	0.612000														99			18		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75427918	75427918	+	Missense_Mutation	SNP	G	A	A	rs149119749	by1000genomes	TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:75427918G>A	uc003kei.1	+	1	477	c.343G>A	c.(343-345)Gat>Aat	p.D115N		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	115					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D115H(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCCCAAGGGCGATGAGTACAA	0.537000														35			12		0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123868522	123868522	+	Silent	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:123868522T>C	uc003iez.4	+	8	1666	c.1593T>C	c.(1591-1593)gaT>gaC	p.D531D	SPATA5_uc003iey.3_Silent_p.D530D	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	531					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ACCGGCTAGATATTCTCCAGA	0.512000														83			26		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49164710	49164710	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:49164710G>A	uc001rsh.4	-	18	3755	c.3095C>T	c.(3094-3096)aCg>aTg	p.T1032M	ADCY6_uc001rsi.4_Missense_Mutation_p.T979M|ADCY6_uc001rsj.4_Missense_Mutation_p.T1032M|ADCY6_uc010slw.1_3'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	1032					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCTACCAATCGTCTTGATCTT	0.597000														53			23		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156907218	156907218	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:156907218C>T	uc001fqo.3	-	37	5183	c.4143G>A	c.(4141-4143)atG>atA	p.M1381I	ARHGEF11_uc010phu.2_Missense_Mutation_p.M797I|ARHGEF11_uc001fqn.3_Missense_Mutation_p.M1421I|MIR765_uc021pbj.1_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1381					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGGGGGCTCATGGGTGCCT	0.612000														71			89		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767893	181767893	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:181767893G>A	uc009wxt.3	+	47	7060	c.6865G>A	c.(6865-6867)Ggg>Agg	p.G2289R	CACNA1E_uc001gow.3_Missense_Mutation_p.G2246R|CACNA1E_uc009wxs.3_Missense_Mutation_p.G2227R	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2289					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						GCGGAGGCGCGGGGGGCCTGG	0.642000														36			6		0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014801	127014801	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:127014801C>G	uc010lla.2	-	4	1301	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	ZNF800_uc003vlw.1_Missense_Mutation_p.E100Q|ZNF800_uc003vlx.1_Missense_Mutation_p.E197Q|ZNF800_uc003vly.1_Missense_Mutation_p.E197Q	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTAACAATCTCAACAGGAGGG	0.443000														155			18		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69104733	69104733	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:69104733T>C	uc003xxv.1	+	36	4604	c.4577T>C	c.(4576-4578)aTc>aCc	p.I1526T		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1526					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.I1526I(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCCTGCCACATCATCATGTGC	0.522000														37			8		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7674161	7674161	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:7674161G>A	uc002giu.1	+	25	4286	c.4272G>A	c.(4270-4272)aaG>aaA	p.K1424K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1424	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTGAGAAGGATGTGGACC	0.493000														117			39		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109384360	109384360	+	Silent	SNP	G	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:109384360G>C	uc002tem.4	+	19	7491	c.7365G>C	c.(7363-7365)cgG>cgC	p.R2455R		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2455					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATGTTTCTCGGTCAAGCACTC	0.398000														258			62		0	0	1	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107294	27107294	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr6:27107294C>T	uc003niy.1	+	0	207	c.207C>T	c.(205-207)gaC>gaT	p.D69D	HIST1H2BK_uc003nix.2_Intron	NM_003495	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4i (HIST1H4I), mRNA.	69					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						TGATCCGGGACGCCGTGACCT	0.657000			T	BCL6	NHL									90			42		0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49573937	49573937	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:49573937G>A	uc002pmg.3	-	1	1110	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	252						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		ACAAAGTAGGGAAGGATAGCC	0.567000														93			37		0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20295164	20295164	+	Splice_Site	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:20295164G>A	uc002nou.2	+	2	88	c.31_splice	c.e2-1	p.E11_splice		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						GTGTTTTTCAGGAATCATTGC	0.393000														262			63		0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74923643	74923643	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:74923643G>A	uc002fdh.1	-	20	2255	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L	WDR59_uc002fdf.1_Missense_Mutation_p.P163L|WDR59_uc002fdg.1_Missense_Mutation_p.P310L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	718										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCGAGCCCAGGGTGTTTCCAA	0.463000														61			17		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47364117	47364118	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr18:47364117_47364118GG>AA	uc002leb.2	-	36	5195_5196	c.4907_4908CC>TT	c.(4906-4908)acc>aTT	p.T1636I	MYO5B_uc002ldz.3_Missense_Mutation_p.T206I|MYO5B_uc002lea.2_Missense_Mutation_p.T751I	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1636	Dilute.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCGGTAGCCGGTGGGCTTCAC	0.485000														42			55		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306552	3306552	+	Silent	SNP	G	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:3306552G>T	uc002cun.1	-	0	76	c.36C>A	c.(34-36)acC>acA	p.T12T	MEFV_uc021tbw.1_Silent_p.T12T|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	12	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTCCTCCAGGGTGGACAGCA	0.572000														44			65		3.28615e-30	3.53185e-30	1	1	0
CAMKMT	79823	broad.mit.edu	37	2	44999183	44999183	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:44999183G>A	uc002rum.2	+	10	1007	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	Homo sapiens calmodulin-lysine N-methyltransferase (CAMKMT), mRNA.	301						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						AGTTGAAAAAGGAAAACCCGG	0.343000														58			10		0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138860786	138860786	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:138860786G>A	uc003lep.3	-	3	671	c.369C>T	c.(367-369)ctC>ctT	p.L123L		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA.	123					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAGGCCCAGGAGGGCAAGCA	0.627000														70			26		0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155026807	155026807	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:155026807C>T	uc001fgr.1	+	5	538	c.437C>T	c.(436-438)aCc>aTc	p.T146I	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.T130I|ADAM15_uc010peu.1_Missense_Mutation_p.T163I|ADAM15_uc001fgx.1_Missense_Mutation_p.T146I|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.T146I|ADAM15_uc001fgs.1_Missense_Mutation_p.T146I|ADAM15_uc010pev.1_Missense_Mutation_p.T156I|ADAM15_uc001fgu.1_Missense_Mutation_p.T146I|ADAM15_uc001fgv.1_Missense_Mutation_p.T146I|ADAM15_uc001fgw.1_Missense_Mutation_p.T146I	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	146					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGGTCCTGACCCCAGAGAGA	0.522000														127			23		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277662	140277662	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:140277662C>T	uc003etn.3	+	11	2194	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	668					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGAGCACCTTCGCCAAAACCG	0.532000										HNSCC(16;0.037)				68			18		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654675	31654675	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr21:31654675A>C	uc002ynv.3	-	0	602	c.576T>G	c.(574-576)tgT>tgG	p.C192W		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	192						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGGAAATATAACATAATGGTG	0.418000														66			22		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546683	9546684	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr20:9546683_9546684CC>TT	uc002wnl.2	-	5	1883_1884	c.1338_1339GG>AA	c.(1336-1341)agggaa>agAAaa	p.E447K	PAK7_uc002wnk.2_Missense_Mutation_p.E447K|PAK7_uc002wnj.2_Missense_Mutation_p.E447K|PAK7_uc010gby.1_Missense_Mutation_p.E447K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	447	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCCAAGTATTCCCTGGGGTCTC	0.584000														94			48		0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011172	40011172	+	Missense_Mutation	SNP	G	A	A	rs35273913		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr8:40011172G>A	uc003xnq.2	+	0	186	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA.	41					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CAACATCTTTGAAAACACAGA	0.483000														29			45		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377642	230377642	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:230377642G>A	uc002vpv.3	-	5	1151	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	DNER_uc010zly.1_Missense_Mutation_p.S63F	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	335	EGF-like 3.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACAGGTACAGGAAAAAGTTGC	0.438000														41			8		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917423	48917423	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:48917423C>T	uc002isv.4	+	1	1468	c.774C>T	c.(772-774)aaC>aaT	p.N258N	WFIKKN2_uc010dbu.3_Silent_p.N165N	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	258	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGCGGCCCAACCATGTGCGTG	0.607000														67			21		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125900207	125900207	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:125900207C>T	uc001uhe.1	+	2	1083	c.1075C>T	c.(1075-1077)Ccg>Tcg	p.P359S	TMEM132B_uc021rgl.1_Missense_Mutation_p.P249S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	359						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGGCCATCGCCCGGACACGCA	0.592000														71			6		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526679	23526679	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:23526679G>T	uc003jgo.3	+	10	1664	c.1482G>T	c.(1480-1482)atG>atT	p.M494I		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	494					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGAATAATGGAAGAAGAGT	0.443000										HNSCC(3;0.000094)				61			26		3.28513e-13	3.41891e-13	1	1	0
TCRA	0	broad.mit.edu	37	14	23016520	23016520	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:23016520C>G	uc001wbw.2	+	3	489	c.480C>G	c.(478-480)ttC>ttG	p.F160L	TCRA_uc001wco.3_Non-coding_Transcript|TCRA_uc010aje.1_3'UTR|TCRA_uc001wcp.2_Missense_Mutation_p.F158L|TCRA_uc001wcr.1_3'UTR|TCRA_uc001wcs.1_3'UTR|TCRA_uc010ajf.1_Missense_Mutation_p.F117L|TCRA_uc001wcx.4_Non-coding_Transcript|TCRA_uc021rpr.1_Missense_Mutation_p.F60L|TCRA_uc001wde.1_3'UTR|TCRA_uc010ajk.2_Missense_Mutation_p.F155L|TCRA_uc001wdg.1_Missense_Mutation_p.F73L|TCRA_uc021rpt.1_Missense_Mutation_p.F70L|TCRA_uc010ajo.1_Missense_Mutation_p.F129L|TCRA_uc010ajp.1_Missense_Mutation_p.F155L|TCRA_uc001wdv.4_Missense_Mutation_p.F86L|TCRA_uc001wec.3_Missense_Mutation_p.F45L|TCRA_uc001wee.4_5'UTR|TCRA_uc010tmt.1_Non-coding_Transcript|TCRA_uc010ajv.1_Non-coding_Transcript|TCRA_uc001weg.2_5'UTR|TCRA_uc001wei.3_5'UTR|TCRA_uc001wej.3_5'UTR|TCRA_uc001wek.3_Missense_Mutation_p.F31L|TCRA_uc001wel.3_5'UTR|TCRA_uc001wem.4_5'UTR|TCRA_uc001wen.2_Non-coding_Transcript|TCRA_uc001weo.2_5'UTR|TCRA_uc001wep.3_5'UTR|TCRA_uc001weq.3_Missense_Mutation_p.F38L|TCRA_uc021rqa.1_Non-coding_Transcript|TCRA_uc021rqb.1_5'UTR|TCRA_uc001wet.3_5'UTR|TCRA_uc001weu.3_5'UTR|TCRA_uc001wev.3_Missense_Mutation_p.F39L|TCRA_uc010tmv.2_Non-coding_Transcript|TCRA_uc001wez.2_Non-coding_Transcript|TCRA_uc010ajx.1_5'UTR|TCRA_uc001wfb.2_Non-coding_Transcript|TCRA_uc021rqh.1_Non-coding_Transcript|TCRA_uc001wfd.1_5'UTR|TCRA_uc001wfe.3_Missense_Mutation_p.F46L|TCRA_uc001wfg.2_Non-coding_Transcript|TCRA_uc001wfh.1_Missense_Mutation_p.F37L|TCRA_uc001wfi.2_Non-coding_Transcript|TCRA_uc001wfk.3_5'UTR|TCRA_uc010ajy.2_5'UTR|TCRA_uc001wfn.3_5'UTR|TCRA_uc001wfp.3_5'UTR|TCRA_uc001wfq.2_5'UTR|TCRA_uc001wfr.1_Non-coding_Transcript|TCRA_uc010ajz.1_Non-coding_Transcript|TCRA_uc001wfs.2_Non-coding_Transcript|TCRA_uc001wft.2_5'UTR|TCRA_uc001wfv.2_5'UTR|TCRA_uc001wfw.1_5'UTR|TCRA_uc001wfx.3_5'UTR|TCRA_uc001wfy.2_Missense_Mutation_p.F31L|TCRA_uc001wfz.1_Non-coding_Transcript|TCRA_uc001wgc.2_Missense_Mutation_p.F44L|TCRA_uc021rqo.1_Missense_Mutation_p.F31L|TCRA_uc001wge.4_5'UTR|TCRA_uc021rqp.1_5'UTR|TCRA_uc010tmw.2_5'UTR|TCRA_uc010tmx.2_5'UTR|TCRA_uc010tmy.2_Non-coding_Transcript|TCRA_uc001wgh.3_5'UTR|TCRA_uc001wgi.2_Non-coding_Transcript|TCRA_uc001wgj.1_5'UTR|TCRA_uc001wgk.3_5'UTR					SubName: Full=Alpha-chain C region; Flags: Fragment;																		TCTGCCTATTCACCGATTTTG	0.443000														143			44		0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235267	137235267	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:137235267G>C	uc003lby.3	+	4	643	c.587G>C	c.(586-588)cGa>cCa	p.R196P	PKD2L2_uc010jep.1_Missense_Mutation_p.R136P|PKD2L2_uc003lbw.1_Missense_Mutation_p.R196P|PKD2L2_uc003lbx.3_Missense_Mutation_p.R196P|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	196						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTGTTTACCGAAATGGGGGA	0.383000														44			18		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160444	41160444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:41160444C>T	uc003jmk.2	-	10	1694	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	C6_uc003jml.1_Missense_Mutation_p.R495K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	495	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)				GGGGATGTTTCTTACCAAGTC	0.502000														79			52		0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70358493	70358493	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr15:70358493G>A	uc002asl.2	-	5	753	c.452C>T	c.(451-453)cCc>cTc	p.P151L	TLE3_uc002ask.2_Missense_Mutation_p.P90L|TLE3_uc010ukd.1_Missense_Mutation_p.P139L|TLE3_uc010bil.1_Missense_Mutation_p.P146L|TLE3_uc002asn.2_Missense_Mutation_p.P146L|TLE3_uc002asm.2_Missense_Mutation_p.P146L|TLE3_uc002asp.2_Missense_Mutation_p.P146L|TLE3_uc002aso.2_Missense_Mutation_p.P146L|TLE3_uc010bim.1_Non-coding_Transcript	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	146	Gly/Pro-rich.				Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGACGGGTGGGGTGGCAACTG	0.677000														25			8		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169049306	169049306	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:169049306C>T	uc003irm.3	+	1	254	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	30							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GAGGAGCACTCCAAGGATTTG	0.373000														39			6		0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34933922	34933922	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:34933922A>T	uc003jjb.3	+	1	327	c.100A>T	c.(100-102)Aaa>Taa	p.K34*	DNAJC21_uc003jjc.3_Nonsense_Mutation_p.K34*|DNAJC21_uc010iuu.1_5'Flank	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	34	J.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTTAACAGATAAAAATCTGGA	0.378000														24			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090567	9090567	+	Silent	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr19:9090567C>T	uc002mkp.3	-	0	1452	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	416	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						TGTTGGTCTCCTCTGAGACTA	0.502000														81			19		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75095266	75095266	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:75095266T>G	uc009xrc.3	-	7	930	c.809A>C	c.(808-810)aAt>aCt	p.N270T	TTC18_uc001jty.3_Missense_Mutation_p.N270T|TTC18_uc009xrd.1_Missense_Mutation_p.N78T	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	270							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTCTGCTTGATTCCTAAATTC	0.403000														14			12		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596836	39596836	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr17:39596836T>G	uc002hwq.1	-	0	761	c.338A>C	c.(337-339)gAc>gCc	p.D113A		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	113	Coil 1A.|Rod.			D -> G (in Ref. 6; CAH10351).		intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCCAGGCGGTCATTCAGGAA	0.587000														61			72		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142371	177142371	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr4:177142371C>T	uc003iuq.2	-	4	719	c.605G>A	c.(604-606)gGa>gAa	p.G202E	ASB5_uc003iup.2_Missense_Mutation_p.G149E	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	202					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GAGAGGAGTTCCCAAATGAGG	0.403000														28			31		0	0	1	0	0
EIF2C4	192670	broad.mit.edu	37	1	36282581	36282581	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:36282581C>T	uc001bzj.2	+	1	308	c.118C>T	c.(118-120)Cct>Tct	p.P40S		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	40					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTTCAGATTCCTAAAATAGA	0.433000														66			24		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246591	46246591	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr12:46246591C>T	uc001ros.1	+	14	4685	c.4685C>T	c.(4684-4686)cCa>cTa	p.P1562L	ARID2_uc001ror.3_Missense_Mutation_p.P1562L|ARID2_uc009zkg.1_Missense_Mutation_p.P1018L|ARID2_uc009zkh.1_Missense_Mutation_p.P1189L|ARID2_uc001rou.1_Missense_Mutation_p.P896L	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1562					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAGCAGATCCAAGCACTGTA	0.453000			"""N, S, F"""		hepatocellular carcinoma									65			11		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205129291	205129291	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:205129291G>C	uc001hbw.3	-	7	2120	c.2056C>G	c.(2056-2058)Cca>Gca	p.P686A	DSTYK_uc001hbx.3_Missense_Mutation_p.P686A|DSTYK_uc001hby.1_Missense_Mutation_p.P147A	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	686	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTCTCATCTGGAGGGACAACT	0.493000														194			50		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179660033	179660033	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:179660033G>A	uc010pnp.2	+	17	3581	c.3063G>A	c.(3061-3063)agG>agA	p.R1021R	TDRD5_uc021pfm.1_Silent_p.R967R|TDRD5_uc001gnf.2_Silent_p.R967R|TDRD5_uc021pfn.1_Silent_p.R1021R|TDRD5_uc001gnh.2_Silent_p.R522R	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	967					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTACATCCAGGAGCCTCCTAC	0.512000														58			16		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71359783	71359783	+	Silent	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chrX:71359783G>A	uc011mqa.2	+	5	2385	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K	NHSL2_uc004eak.1_Silent_p.K429K|NHSL2_uc010nli.2_Silent_p.K564K	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	795										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GCAAAACTAAGGTGAGTCGGC	0.488000														20			11		0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47703538	47703538	+	Nonsense_Mutation	SNP	C	T	T	rs63749932		TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr2:47703538C>T	uc002rvy.1	+	12	2106	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	MSH2_uc010yoh.1_Nonsense_Mutation_p.R614*|MSH2_uc002rvz.3_Nonsense_Mutation_p.R680*|MSH2_uc010fbg.2_Nonsense_Mutation_p.R490*	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	680					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.R680*(8)|p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACATATATTCGACAAACTGG	0.398000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					44			17		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111685471	111685471	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:111685471C>T	uc010hqa.3	+	13	3500	c.3089C>T	c.(3088-3090)tCa>tTa	p.S1030L	PHLDB2_uc003dyc.3_Missense_Mutation_p.S1014L|PHLDB2_uc003dyd.3_Missense_Mutation_p.S987L|PHLDB2_uc003dyg.3_Missense_Mutation_p.S1030L|PHLDB2_uc003dyh.3_Missense_Mutation_p.S987L|PHLDB2_uc003dyi.3_Missense_Mutation_p.S521L|PHLDB2_uc003dyj.3_Missense_Mutation_p.S85L	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1030						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						GCCAGCACTTCAAATATTGCT	0.423000														134			22		0	0	1	0	0
C7orf29	113763	broad.mit.edu	37	7	150027740	150027740	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr7:150027740G>A	uc003wgy.3	+	0	803	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	83										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGCTTCAAGGGGAAGATTGA	0.567000														213			41		0	0	1	0	0
PIGZ	80235	broad.mit.edu	37	3	196675080	196675080	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:196675080A>C	uc003fxh.3	-	2	835	c.688T>G	c.(688-690)Ttt>Gtt	p.F230V		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	230					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		AAGGCCAGAAAGGTGGGCCGG	0.652000														126			18		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087712	175087712	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:175087712A>C	uc001gkl.1	+	10	2515	c.2402A>C	c.(2401-2403)cAa>cCa	p.Q801P		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	801	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				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)		GACAGCCCCCAAAACCTGGTC	0.517000														121			27		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723868	99723868	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr14:99723868C>T	uc001yga.3	-	1	634	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	BCL11B_uc001ygb.3_Missense_Mutation_p.E123K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	123						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGGTCATCTTCGTCGGGGGTG	0.607000			T	TLX3	T-ALL									176			33		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640955	156640955	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr1:156640955G>A	uc001fpq.3	-	3	3158	c.3025C>T	c.(3025-3027)Cca>Tca	p.P1009S	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1009	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCTCGCCTGGGATCCAGACC	0.627000														494			99		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065441	35065441	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr5:35065441G>A	uc003jjm.3	-	9	2178	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.P439L|PRLR_uc021xxl.1_Silent_p.S349S	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	540					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATTGTTCTCAGGAGTCCCGGG	0.473000														55			19		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr3:151148114_151148116delCAG	uc003eyp.3	+	41	6460_6462	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		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)			GCAGCAGACCCAGCAGCAGCAGC	0.527													---	197	---	---	7	---					
ANK3	288	broad.mit.edu	37	10	61846476	61846484	+	In_Frame_Del	DEL	CCTTTGTAT	-	-			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr10:61846476_61846484delCCTTTGTAT	uc001jky.3	-	29	4037_4045	c.3699_3707delATACAAAGG	c.(3697-3708)ggatacaaaggg>ggg	p.1233_1236GYKG>G	ANK3_uc001jkw.3_In_Frame_Del_p.367_370GYKG>G|ANK3_uc009xpa.3_In_Frame_Del_p.367_370GYKG>G|ANK3_uc001jkx.3_In_Frame_Del_p.411_414GYKG>G|ANK3_uc010qih.2_In_Frame_Del_p.1234_1237GYKG>G|ANK3_uc001jkz.4_In_Frame_Del_p.1227_1230GYKG>G|ANK3_uc001jla.1_In_Frame_Del_p.299_302GYKG>G|ANK3_uc001jlb.1_In_Frame_Del_p.751_754GYKG>G	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1233					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAGTGTCCCCTTTGTATCCATTGGATA	0.450													---	52	---	---	22	---					
RB1	5925	broad.mit.edu	37	13	48919262	48919262	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr13:48919262delA	uc001vcb.3	+	3	593	c.427delA	c.(427-429)aaafs	p.K143fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	143					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACCAGTACCAAAGTTGATAA	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	28	---	---	19	---					
RPL2B	0	broad.mit.edu	37	16	436840	436840	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A553-01A-12D-A27K-08	TCGA-EB-A553-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c64d2786-dc8b-4c5a-b68c-7a9a56db67e6	113c7046-00b1-439c-b7a3-467b16a02026	g.chr16:436840delG	uc002cgx.3	+	0	178	c.150delG	c.(148-150)aagfs	p.K50fs	LOC100134368_uc002cgw.1_Intron					SubName: Full=Putative uncharacterized protein;																		AGGCCAAGAAGGCAGCGTTGA	0.532													---	47	---	---	48	---					
