Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARSJ	79642	broad.mit.edu	37	4	114899926	114899926	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr4:114899926C>A	uc003ibq.1	-	0	953	c.65G>T	c.(64-66)gGa>gTa	p.G22V	ARSJ_uc010imu.1_Missense_Mutation_p.G22V|ARSJ_uc010imv.1_5'UTR	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	22						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TAGCATCTTTCCAGGACAGAC	0.607000													138	15					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153925843	153925843	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:153925843G>A	uc021pab.1	-	5	665	c.506C>T	c.(505-507)aCa>aTa	p.T169I	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	169					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCAGAGCTTGTCCTATGGGG	0.592000													5	57					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434762	31434762	+	Silent	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr16:31434762C>A	uc010cap.1	+	24	3001	c.2952C>A	c.(2950-2952)gtC>gtA	p.V984V	ITGAD_uc002ebv.1_Silent_p.V983V	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	983					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGATGTGGTCATGGAGGCCC	0.542000													106	43					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651251	1651251	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:1651251G>A	uc001lty.3	+	0	219	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	61						keratin filament		p.G61S(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		atgtggctccggctgCTGTGT	0.682000													92	34					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003362	50003362	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:50003362T>G	uc010ria.2	-	0	710	c.676A>C	c.(676-678)Aat>Cat	p.N226H		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCCAAGCTATTGTTCTTTAAA	0.408000													7	42					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	115006917	115006917	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:115006917C>G	uc001eew.3	-	1	704	c.620G>C	c.(619-621)aGc>aCc	p.S207T	TRIM33_uc010ows.2_5'Flank|TRIM33_uc001eex.3_Missense_Mutation_p.S207T	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	207					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAGAACTGCTAGGAGCTTC	0.358000			T	RET	papillary thyroid								6	11					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50216636	50216636	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:50216636G>A	uc011arg.2	-	0	1344	c.1330C>T	c.(1330-1332)Ctg>Ttg	p.L444L	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.L444L|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.L444L	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	430					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACGGTCGGCAGGACCGCGCAG	0.572000													56	117					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520200	62520200	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:62520200C>G	uc001nuz.3	-	1	1209	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GTCTCTTCATCAGAGATCACA	0.577000													27	35					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81239693	81239693	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:81239693C>A	uc001szj.1	-	3	492	c.299G>T	c.(298-300)aGt>aTt	p.S100I	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	100					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						GTGGCCTTCACTAGCTGCAAA	0.408000													18	0					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53321609	53321609	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:53321609G>T	uc021wzi.1	-	9	1848	c.1738C>A	c.(1738-1740)Cac>Aac	p.H580N		NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	Homo sapiens DCP1 decapping enzyme homolog A (S. cerevisiae) (DCP1A), mRNA.	580					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CATAGGTTGTGGTTGTCTTTG	0.433000													17	32					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56792513	56792513	+	Silent	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr16:56792513G>T	uc002eka.3	+	2	364	c.243G>T	c.(241-243)ctG>ctT	p.L81L		NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	81					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGAGAGTCTGAGTGCAGCCA	0.517000													11	38					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196397292	196397292	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:196397292C>T	uc001gtd.1	-	9	987	c.927G>A	c.(925-927)ctG>ctA	p.L309L	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.L309L|KCNT2_uc001gtf.1_Silent_p.L309L|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Silent_p.L309L|KCNT2_uc009wyv.1_Silent_p.L284L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	309						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						AATCAATCTTCAGTGAGCTGA	0.393000													4	35					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:29628299A>G	uc010ztl.1	+	2	243	c.211A>G	c.(211-213)Agt>Ggt	p.S71G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													5	95					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50964799	50964799	+	Splice_Site	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:50964799G>A	uc002psf.2	+	25	2983	c.2932_splice	c.e25-1	p.E978_splice		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	978	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCACACTAGGAGTGGTTCAA	0.512000											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33999485	33999485	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:33999485C>T	uc001bxm.1	-	62	10079	c.9902G>A	c.(9901-9903)cGt>cAt	p.R3301H	CSMD2_uc001bxn.1_Missense_Mutation_p.R3157H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3157						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTTTGACAACGGAAGAGGAC	0.562000													17	11					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	54					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121947777	121947777	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:121947777C>T	uc001uat.3	-	10	1344	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	KDM2B_uc001uar.3_Missense_Mutation_p.A5T|KDM2B_uc001uas.3_Missense_Mutation_p.A383T|KDM2B_uc021rfd.1_Missense_Mutation_p.A383T|KDM2B_uc001uau.3_Missense_Mutation_p.A297T|KDM2B_uc021rfe.1_Missense_Mutation_p.A414T|KDM2B_uc001uav.4_Missense_Mutation_p.A324T	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	414	Glu-rich.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGATCACAGGCCTCCTCCTCC	0.627000													27	4					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95514946	95514946	+	Splice_Site	SNP	C	C	T	rs143937878	by1000genomes	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:95514946C>T	uc010fhp.3	-	4		c.505_splice	c.e4+1					Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.R201Q(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ACTACTGTACCGTCTCAGCCT	0.308000													4	117					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278956	152278956	+	Silent	SNP	G	G	A	rs137870179	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:152278956G>A	uc001ezu.1	-	2	8442	c.8406C>T	c.(8404-8406)caC>caT	p.H2802H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2802	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H2802Q(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGAATGCTCGTGGTGGTACC	0.597000									Ichthyosis				17	764					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29977358	29977358	+	Missense_Mutation	SNP	T	T	C	rs146982767	by1000genomes	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:29977358T>C	uc021yty.1	+	4	404	c.386T>C	c.(385-387)aTg>aCg	p.M129T	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.M126T					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		GATTTGTTCATGCCTTCCCTT	0.448000													4	39					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134628401	134628401	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr10:134628401C>G	uc021qbc.1	-	50	7236	c.7135G>C	c.(7135-7137)Gag>Cag	p.E2379Q		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	540										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTTCTTCCCTCCTTTTTCACG	0.577000													7	130					0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22106726	22106726	+	Silent	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:22106726C>G	uc003xbl.3	+	6	908	c.825C>G	c.(823-825)ctC>ctG	p.L275L	POLR3D_uc003xbm.3_Silent_p.L275L|POLR3D_uc011kze.2_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	275					innate immune response|positive regulation of 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			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAGACACCCTCCCTGGCCAGC	0.597000													9	50					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50216637	50216637	+	Silent	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:50216637G>T	uc011arg.2	-	0	1343	c.1329C>A	c.(1327-1329)gtC>gtA	p.V443V	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.V443V|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.V443V	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	430					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGGTCGGCAGGACCGCGCAGG	0.567000													56	119					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101266664	101266664	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr13:101266664G>A	uc001vot.3	-	15	2170	c.1857C>T	c.(1855-1857)caC>caT	p.H619H	TMTC4_uc001vou.3_Silent_p.H600H|TMTC4_uc010tja.2_Silent_p.H489H	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	600						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGCATCCACGTGGCGATTGA	0.413000													10	93					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35545400	35545400	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:35545400G>C	uc002xgh.2	-	7	1105	c.905C>G	c.(904-906)tCt>tGt	p.S302C		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	302	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.S302Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCTTTTATTAGATACTATCTC	0.363000													18	25					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr18:47363917A>G	uc002leb.2	-	36	5396	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_uc002ldz.3_Missense_Mutation_p.V273A|MYO5B_uc002lea.2_Missense_Mutation_p.V818A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1703	Dilute.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.V1703A(10)		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)		CCAAGAGCAGACGTCCTTCCG	0.527000													3	31					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	240531	240531	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr5:240531C>G	uc011clv.1	+	10	1606	c.1491C>G	c.(1489-1491)gaC>gaG	p.D497E	SDHA_uc003jao.4_Missense_Mutation_p.D497E|SDHA_uc011clw.2_Missense_Mutation_p.D449E|SDHA_uc003jaq.4_Missense_Mutation_p.D272E|SDHA_uc021xvu.1_Missense_Mutation_p.D272E	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	497					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGAATCTTGACAAATTGAGAT	0.428000									Familial Paragangliomas				4	73					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889956	51889956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:51889956G>T	uc003pah.1	-	31	4928	c.4652C>A	c.(4651-4653)tCa>tAa	p.S1551*	PKHD1_uc003pai.3_Nonsense_Mutation_p.S1551*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1551	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAAAAAACTGACAGGTAGTG	0.403000													10	51					0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137243603	137243603	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:137243603T>G	uc003qhe.3	+	0	202	c.37T>G	c.(37-39)Tcg>Gcg	p.S13A		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	13					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GCTGGGCATCTCGGTGGCCAT	0.701000													4	14					0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42832213	42832213	+	RNA	SNP	T	T	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr10:42832213T>C	uc010qey.2	-	2		c.1762A>G								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		AGCTTTGACGTATTCTTGACA	0.348000													3	10					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511815	195511815	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:195511815G>A	uc021xjp.1	-	1	6792	c.6636C>T	c.(6634-6636)acC>acT	p.T2212T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1001					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T2212T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGGGCTGGTGACAGGAA	0.602000													4	32					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148809307	148809307	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr7:148809307C>G	uc003wfj.3	-	2	359	c.226G>C	c.(226-228)Gat>Cat	p.D76H		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	76	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTGTTTTATCTAAGCATCCC	0.398000													4	73					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107511	107511	+	RNA	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrGL000211.1:107511A>T	uc003boa.3	+	4		c.1051A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATGCAAATTATTTTGAAATA	0.279000													6	7					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272749	52272749	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:52272749A>T	uc002pxr.3	+	1	883	c.838A>T	c.(838-840)Att>Ttt	p.I280F	FPR2_uc002pxs.4_Missense_Mutation_p.I280F|FPR2_uc010epf.3_Missense_Mutation_p.I280F|FPR2_uc021uyp.1_Missense_Mutation_p.I280F	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	280					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTACAAAATCATTGACATCCT	0.498000													13	45					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327903	16327903	+	Missense_Mutation	SNP	C	C	A	rs3817753		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:16327903C>A	uc003nbt.3	-	7	1610	c.639G>T	c.(637-639)caG>caT	p.Q213H	ATXN1_uc010jpi.3_Missense_Mutation_p.Q213H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	213	Poly-Gln.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgatgct	0.667000													5	33					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83245	83245	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrGL000219.1:83245T>C	uc022brb.1	-	3	422	c.109A>G	c.(109-111)Agt>Ggt	p.S37G	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GCTGTTTTACTTTTTGCTTCT	0.363000													3	24					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414533	68414533	+	RNA	SNP	A	A	C	rs143375301		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:68414533A>C	uc004aex.3	+	0		c.1088A>C								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		atggaacatcactgtctgggt	0.373000													3	21					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042815	75042815	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr15:75042815C>T	uc002ayr.1	+	1	800	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	246					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TCGCTACCTGCCTAACCCTGC	0.552000													33	116					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19712043	19712043	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:19712043C>T	uc010ocz.2	-	2	686	c.258G>A	c.(256-258)aaG>aaA	p.K86K	CAPZB_uc001bce.3_Silent_p.K57K|CAPZB_uc021ohr.1_Silent_p.K57K|CAPZB_uc009vpk.3_Silent_p.K83K	NM_004930	NP_004921	P47756	CAPZB_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, beta (CAPZB), transcript variant 1, mRNA.	57					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	F-actin capping protein complex|WASH complex|cytosol	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		AAAGGTAATCCTTTCCCACCA	0.547000													20	27					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113748841	113748841	+	Silent	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr13:113748841G>T	uc001vsu.3	+	26	3138	c.3138G>T	c.(3136-3138)acG>acT	p.T1046T	MCF2L_uc001vsq.3_Silent_p.T1046T|MCF2L_uc010tjr.2_Silent_p.T989T|MCF2L_uc001vsr.3_Silent_p.T993T|MCF2L_uc010tjs.2_Silent_p.T987T	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	1019					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGAGCAAAACGTCCCACTCAC	0.622000													5	39					0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98251260	98251260	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:98251260G>A	uc011bgy.2	+	0	383	c.383G>A	c.(382-384)aGt>aAt	p.S128N		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	128						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTTGCATGAGTGTTGACCGC	0.522000													19	37					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656143	40656143	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:40656143G>A	uc002rrx.3	-	0	1302	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	SLC8A1_uc002rry.3_Silent_p.A426A|SLC8A1_uc002rsb.2_Silent_p.A426A|SLC8A1_uc002rrz.3_Silent_p.A426A|SLC8A1_uc002rsa.3_Silent_p.A426A|SLC8A1_uc002rsd.4_Silent_p.A426A|SLC8A1_uc010fan.1_Silent_p.A426A|SLC8A1_uc002rsc.1_Silent_p.A426A	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	426	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.A426A(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAATGGTAAGGGCCACAGTAC	0.438000													11	111					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	G	rs121912666		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:7578190T>G	uc002gim.2	-	5	853	c.659A>C	c.(658-660)tAt>tCt	p.Y220S	TP53_uc002gig.1_Missense_Mutation_p.Y220S|TP53_uc002gih.3_Missense_Mutation_p.Y220S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88S|TP53_uc010cnf.1_Missense_Mutation_p.Y88S|TP53_uc002gii.1_Missense_Mutation_p.Y88S|TP53_uc010cni.1_Missense_Mutation_p.Y220S|TP53_uc010cnh.1_Missense_Mutation_p.Y220S|TP53_uc002gij.2_Missense_Mutation_p.Y220S|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127S|TP53_uc002gio.2_Missense_Mutation_p.Y88S|TP53_uc010vug.2_Missense_Mutation_p.Y181S|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	4					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:95522786T>C	uc010fhp.3	-	0		c.35A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.K44K(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CGGCGTCGCCTTTGACAGCTG	0.687000													4	108					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95514963	95514963	+	RNA	SNP	G	G	A	rs114749649	by1000genomes	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:95514963G>A	uc010fhp.3	-	3		c.488C>T						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCCTATCAACGGCATGTGTAC	0.328000													4	131					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1576408	1576408	+	RNA	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr5:1576408C>T	uc011cmd.1	-	1		c.321G>A			SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CCACCAGGTCCGTGTTCCAGA	0.637000													4	32					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414482	68414482	+	RNA	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:68414482C>G	uc004aex.3	+	0		c.1037C>G								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		tctcagggcccttaagaatta	0.423000													3	22					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975451	16975451	+	RNA	SNP	G	G	A	rs150272983	by1000genomes	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:16975451G>A	uc010och.2	+	8		c.1732G>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CGCGTGGCTGGGGGCCATCCG	0.597000													3	25					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135475715	135475715	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:135475715G>A	uc004ezu.1	+	17	8347	c.8056G>A	c.(8056-8058)Gcc>Acc	p.A2686T	GPR112_uc010nsb.1_Missense_Mutation_p.A2481T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2686	GPS.				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)					AGTTCACTGTGCCTTTTGGGA	0.358000													3	8					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5708651	5708651	+	Splice_Site	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:5708651C>G	uc001qnm.2	-	21	2305	c.2233_splice	c.e21+1	p.I745_splice		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	750						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTTCTCACTCATTTCCATGT	0.542000													18	204					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30834617	30834617	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:30834617A>T	uc001rjd.3	-	3	806	c.458T>A	c.(457-459)cTg>cAg	p.L153Q		NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	153					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGTTGATACAGGCATAATAA	0.423000													14	86					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619818	57619818	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:57619818G>A	uc004dvd.3	+	0	1550	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	446	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ATTCACCTGCGGAGTCACACC	0.488000													18	47					0	0	1	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061636	13061636	+	Silent	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:13061636A>G	uc001rba.3	+	1	1103	c.453A>G	c.(451-453)gaA>gaG	p.E151E		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	151						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TCGCTATTGAATATATTGTCC	0.527000													204	131					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2537800	2537800	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:2537800C>G	uc001ajy.2	-	7	851	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	213					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGCTCCCACTCGAGTCCTGGG	0.657000													10	22					0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75065519	75065519	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr4:75065519G>C	uc011cbk.2	+	3	487	c.460G>C	c.(460-462)Gat>Cat	p.D154H	MTHFD2L_uc011cbj.2_Missense_Mutation_p.D96H|MTHFD2L_uc003hhn.1_Missense_Mutation_p.D96H	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	96					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AGACCACGTTGATGAGCGAAC	0.313000													17	39					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29365088	29365088	+	Silent	SNP	T	T	C	rs144790258	by1000genomes	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:29365088T>C	uc003nmf.4	+	0	673	c.612T>C	c.(610-612)atT>atC	p.I204I		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CGGGGACAATTGCCATGGGCC	0.443000													6	133					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194181555	194181555	+	Silent	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:194181555A>G	uc003fty.4	-	2	459	c.57T>C	c.(55-57)atT>atC	p.I19I		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	19					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGTAACCATAAATCTCCTGCA	0.403000													14	105					0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67671330	67671330	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr14:67671330G>C	uc001xja.2	+	4	726	c.436G>C	c.(436-438)Ggt>Cgt	p.G146R	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	146										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		GCTGGTGAGTGGTCGAGCCTA	0.483000													4	17					0	0	1	0	0
CCDC115	84317	broad.mit.edu	37	2	131099731	131099731	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:131099731C>T	uc010zaf.1	-	0	181	c.72G>A	c.(70-72)agG>agA	p.R24R	CCDC115_uc002tqy.1_5'UTR|IMP4_uc002tra.1_5'Flank			Q96NT0	CC115_HUMAN	Homo sapiens coiled-coil domain containing 115 (CCDC115), mRNA.	0						endosome|lysosome				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CCACCTTCTTCCTTGTCACCC	0.627000													5	8					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45203391	45203391	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:45203391C>G	uc001myo.3	+	2	425	c.176C>G	c.(175-177)aCg>aGg	p.T59R		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	59				KTEVCSPLRD -> NPS (in Ref. 1; AAF87244).						endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GTGGTGAAGACGGAGGTCTGC	0.622000													33	7					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	Missense_Mutation	SNP	G	G	A	rs142836124	by1000genomes	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:141070116G>A	uc010ncq.3	+	3	1196	c.356G>A	c.(355-357)cGc>cAc	p.R119H						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													4	81					0	0	1	0	0
AK021933	0	broad.mit.edu	37	GL000195.1	31494	31494	+	RNA	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrGL000195.1:31494A>G	uc003woi.3	-	0		c.487T>C								Homo sapiens cDNA FLJ11871 fis, clone HEMBA1007052.																		GTAGTCCTACAGCGATGTGAT	0.572000													3	8					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56647723	56647723	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:56647723G>T	uc003dhz.3	+	10	1598	c.1511G>T	c.(1510-1512)cGt>cTt	p.R504L	CCDC66_uc003dhy.3_Missense_Mutation_p.R140L|CCDC66_uc003dhu.3_Missense_Mutation_p.R470L|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_5'Flank	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	504										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCACAGGAACGTGAAGAGATG	0.398000													39	41					0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75457378	75457378	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr10:75457378C>T	uc009xri.3	-	0	177	c.136G>A	c.(136-138)Gct>Act	p.A46T	AGAP5_uc001juu.4_Missense_Mutation_p.A7T	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	46					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						ACAGCAGCAGCCATGGGCGCT	0.582000													29	119					0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033563	26033563	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:26033563G>A	uc003nft.1	-	0	234	c.234C>T	c.(232-234)cgC>cgT	p.R78R	HIST1H3B_uc003nfs.1_5'Flank	NM_003513	NP_066390	P04908	H2A1B_HUMAN	Homo sapiens histone cluster 1, H2ab (HIST1H2AB), mRNA.	78					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGGGATGATGCGGGTCTTCT	0.622000													34	106					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234847659	234847659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:234847659C>A	uc002vvh.3	+	4	406	c.366C>A	c.(364-366)tgC>tgA	p.C122*	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Nonsense_Mutation_p.C72*|TRPM8_uc002vvj.3_Nonsense_Mutation_p.C45*	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	122						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTCTGTCCTGCGACACGGACG	0.547000													54	27					0	0	1	0	0
SNTA1	6640	broad.mit.edu	37	20	31996508	31996508	+	Splice_Site	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:31996508A>T	uc002wzd.1	-	7	1697	c.1425_splice	c.e7+1	p.I475_splice	SNTA1_uc010zuf.1_Splice_Site_p.I400_splice	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	475	SU.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CTCACTCACGATCTCGCCTTC	0.622000													6	227					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79180597	79180597	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:79180597C>T	uc002jzp.1	-	4	662	c.462G>A	c.(460-462)ccG>ccA	p.P154P	AZI1_uc002jzn.1_Silent_p.P154P|AZI1_uc002jzo.1_Silent_p.P154P|AZI1_uc010wum.1_Silent_p.P154P	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	154					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTTCCTCCGCGGGCCCGCTG	0.632000													9	72					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811853	73811853	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:73811853A>C	uc004ebu.3	-	4	1587	c.1297T>G	c.(1297-1299)Tca>Gca	p.S433A	RLIM_uc004ebw.3_Missense_Mutation_p.S433A	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	433	Ser-rich.				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCGATTTGAGACTGAGCCA	0.458000													28	12					0	0	1	0	0
LOC642846	642846	broad.mit.edu	37	12	9447432	9447432	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:9447432C>G	uc010sgq.1	+	4	513	c.422C>G	c.(421-423)aCa>aGa	p.T141R	LOC642846_uc010sgp.1_Non-coding_Transcript|LOC642846_uc009zgn.1_5'UTR|LOC642846_uc001qvo.2_5'UTR					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.									p.T167R(1)									GAAGAAGAAACAGAGAATCTC	0.632000													3	27					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413581	68413581	+	RNA	SNP	G	G	C	rs1809619		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:68413581G>C	uc004aex.3	+	0		c.136G>C								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCGGATCTAGGAAAGGTTGTG	0.602000													3	24					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320720	52320720	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:52320720T>A	uc003xqu.4	-	16	3565	c.3464A>T	c.(3463-3465)gAc>gTc	p.D1155V	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1155					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACTCTGAAGTCAACATATGG	0.433000													24	85					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109398713	109398713	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:109398713A>G	uc002tem.4	+	26	9016	c.8890A>G	c.(8890-8892)Aca>Gca	p.T2964A		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2964	RanBD1 4.				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						TCTTTGGCATACAATGAAGAA	0.373000													20	26					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511283	195511283	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:195511283C>T	uc021xjp.1	-	1	7324	c.7168G>A	c.(7168-7170)Gct>Act	p.A2390T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	148					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A2390T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGCGTCGGTGACA	0.592000													4	31					0	0	1	0	0
TMEM185B	79134	broad.mit.edu	37	2	120980196	120980196	+	Silent	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:120980196G>C	uc002tmj.2	-	0	789	c.357C>G	c.(355-357)ctC>ctG	p.L119L		NM_024121	NP_077026	Q9H7F4	T185B_HUMAN	Homo sapiens transmembrane protein 185B (TMEM185B), mRNA.	119						integral to membrane											ACACGAAGAAGAGAGGCATGA	0.612000													7	4					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32843231	32843231	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:32843231G>C	uc003amn.2	-	2	342	c.342C>G	c.(340-342)atC>atG	p.I114M	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	114						extracellular region	lipopolysaccharide binding|phospholipid binding										AGTCTGTGCTGATGTTGGCAG	0.443000													7	81					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016960	23016960	+	Silent	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:23016960G>C	uc002wsr.2	+	0	904	c.840G>C	c.(838-840)ctG>ctC	p.L280L		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	280					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGTGCAGCTGCTGAACCTCT	0.572000													20	128					0	0	1	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2492102	2492102	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:2492102C>T	uc001ajr.3	+	4	799	c.500C>T	c.(499-501)cCg>cTg	p.P167L	TNFRSF14_uc009vlf.1_Missense_Mutation_p.P167L|TNFRSF14_uc001ajt.1_Missense_Mutation_p.R337W	NM_003820	NP_003811	Q92956	TNR14_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 14 (TNFRSF14), mRNA.	167					T cell costimulation|immune response|interspecies interaction between organisms		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AACTGCCCCCCGGGGACCTTC	0.672000			"""Mis, N, F"""		follicular lymphoma								20	14					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40012651	40012651	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:40012651G>T	uc001rmb.2	-	0	1193	c.767C>A	c.(766-768)cCc>cAc	p.P256H		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	256	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAGTAGGGTGGGCCCAATTGG	0.448000													55	51					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:29625955A>T	uc010ztl.1	+	1	141	c.109A>T	c.(109-111)Aga>Tga	p.R37*	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338000													7	95					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9588536	9588536	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:9588536A>C	uc003wss.3	+	13	2143	c.2138A>C	c.(2137-2139)aAa>aCa	p.K713T	TNKS_uc011kww.2_Missense_Mutation_p.K476T|TNKS_uc010lrs.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	713					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTCCATGCCAAAGACAAGGGG	0.438000													7	31					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029445	32029445	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:32029445C>A	uc003nzl.2	-	20	7423	c.7221G>T	c.(7219-7221)gaG>gaT	p.E2407D		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2467	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCAGGGGGCTCCGGGGCCT	0.657000													5	102					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7456839	7456839	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:7456839G>A	uc003bqm.2	+	4	1437	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R388H|GRM7_uc003bql.2_Missense_Mutation_p.R388H|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	388					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.R388P(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACACAGATCGCAAATGCACA	0.423000													19	21					0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51381707	51381707	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:51381707C>G	uc002ptv.3	+	4	719	c.678C>G	c.(676-678)atC>atG	p.I226M	KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_Missense_Mutation_p.I209M|KLK2_uc010ycm.2_Missense_Mutation_p.I124M|KLK2_uc002ptu.3_3'UTR	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	226	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TTCAAGGTATCACATCATGGG	0.532000			T	ETV4	prostate								54	103					0	0	1	0	0
AK021933	0	broad.mit.edu	37	GL000195.1	31029	31029	+	RNA	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrGL000195.1:31029C>T	uc003woi.3	-	0		c.952G>A								Homo sapiens cDNA FLJ11871 fis, clone HEMBA1007052.																		CCTCCAGTGACGCGCACATTC	0.592000													3	5					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39573236	39573236	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr18:39573236C>G	uc002lap.3	+	6	775	c.717C>G	c.(715-717)gaC>gaG	p.D239E	PIK3C3_uc010xcl.2_Missense_Mutation_p.D176E	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	239					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TAATCTAGGACGGTGATGAAT	0.284000										TSP Lung(28;0.18)			6	31					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56490829	56490829	+	Splice_Site	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:56490829C>T	uc001sjh.3	+	20	2551	c.2275_splice	c.e20-1	p.H759_splice	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Splice_Site_p.H116_splice|ERBB3_uc010sqc.2_Splice_Site_p.H700_splice|ERBB3_uc009zok.3_Intron|ERBB3_uc001sjk.3_Splice_Site	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	759	Protein kinase.				Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGTCTCTTAGCATATGCTGGC	0.527000													35	39					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44075093	44075093	+	Silent	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:44075093G>C	uc001cjr.3	+	21	4237	c.3897G>C	c.(3895-3897)tcG>tcC	p.S1299S	PTPRF_uc001cjs.3_Silent_p.S1290S|PTPRF_uc001cju.3_Silent_p.S677S|PTPRF_uc009vwt.3_Silent_p.S859S|PTPRF_uc001cjv.3_Silent_p.S759S|PTPRF_uc001cjw.3_Silent_p.S525S	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1299					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGAGCAGTCGATCGGACTGA	0.577000													5	32					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414486	68414486	+	RNA	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:68414486A>G	uc004aex.3	+	0		c.1041A>G								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		agggcccttaagaattatgca	0.418000													3	21					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:52715971C>G	uc002pyp.3	+	4	831	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_uc010ydk.2_Missense_Mutation_p.P124R|PPP2R1A_uc010epm.1_Missense_Mutation_p.P219R|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.P179R(42)|p.P179L(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612000			Mis		clear cell ovarian carcinoma								13	38					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31658195	31658195	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:31658195G>A	uc003akh.3	+	5	772	c.627G>A	c.(625-627)ggG>ggA	p.G209G	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Silent_p.G188G|LIMK2_uc003akk.3_Silent_p.G188G|LIMK2_uc011aln.2_Silent_p.G126G	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	209	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGATCAATGGGACCCCCGTCC	0.557000													27	91					0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80445875	80445875	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:80445875G>A	uc010dit.3	+	12	1488	c.1348G>A	c.(1348-1350)Gct>Act	p.A450T	NARF_uc002kff.4_Missense_Mutation_p.A346T|NARF_uc002kfg.4_Missense_Mutation_p.A405T|NARF_uc002kfj.4_Missense_Mutation_p.A357T	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA.	405						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGGCATTTACGCTGACATCCC	0.592000													10	51					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43002200	43002201	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:43002200_43002201delAG	uc009vwk.1	+	1	155_156	c.45_46delAG	c.(43-48)aaagagfs	p.K15fs	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Frame_Shift_Del_p.K15fs	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGTGGTCAAAAGAGAGAGAGAG	0.356													7	59	---	---	---	---					
SLAMF6	114836	broad.mit.edu	37	1	160466086	160466088	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:160466086_160466088delCTT	uc001fwe.2	-	1	215_217	c.145_147delAAG	c.(145-147)aagdel	p.K49del	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_In_Frame_Del_p.K49del|SLAMF6_uc010pjh.2_Intron|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Intron	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	49						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGAAGTTGACCTTCTCTCCTGCA	0.458													96	195	---	---	---	---					
CTSE	1510	broad.mit.edu	37	1	206318413	206318414	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:206318413_206318414insGA	uc001hdu.3	+	1	289_290	c.171_172insGA	c.(169-174)accgagfs	p.T57fs	CTSE_uc001hdv.3_Frame_Shift_Ins_p.T57fs|CTSE_uc010prs.2_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	57					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCCAGTTCACCGAGTCCTGCTC	0.584													39	75	---	---	---	---					
SUSD4	55061	broad.mit.edu	37	1	223396671	223396671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:223396671delG	uc001hnx.3	-	6	1998	c.1364delC	c.(1363-1365)cctfs	p.P455fs	SUSD4_uc001hny.4_Frame_Shift_Del_p.P455fs|SUSD4_uc010puw.2_Frame_Shift_Del_p.P295fs	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	455						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTCCGAAGCAGGGTGGGTGCT	0.587													13	121	---	---	---	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													2	4	---	---	---	---					
TANC1	85461	broad.mit.edu	37	2	160031574	160031598	+	Frame_Shift_Del	DEL	CAGAGACCTTCTGATAAAGGAGCCC	CAGAGACCTTCTGATAAAGGAGCCC	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:160031574_160031598delCAGAGACCTTCTGATAAAGGAGCCC	uc002uag.3	+	11	1888_1912	c.1614_1638delCAGAGACCTTCTGATAAAGGAGCCC	c.(1612-1638)tacagagaccttctgataaaggagcccfs	p.Y538fs	TANC1_uc010fol.1_Frame_Shift_Del_p.Y432fs|TANC1_uc010zcm.2_Frame_Shift_Del_p.Y530fs|TANC1_uc010fom.1_Frame_Shift_Del_p.Y344fs	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	538						cell junction|postsynaptic density|postsynaptic membrane	binding	p.A537S(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCGCCTACAGAGACCTTCTGATAAAGGAGCCCCAACTACAGA	0.573													20	133	---	---	---	---					
ATP2B2	491	broad.mit.edu	37	3	10452444	10452444	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:10452444delG	uc003bvt.3	-	2	694	c.255delC	c.(253-255)aacfs	p.N85fs	ATP2B2_uc003bvv.3_Frame_Shift_Del_p.N85fs|ATP2B2_uc003bvw.3_Frame_Shift_Del_p.N85fs|ATP2B2_uc010hdp.2_Frame_Shift_Del_p.N85fs|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	85					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAGGTATAAAGTTTTGCCCAA	0.547													8	385	---	---	---	---					
PILRB	29990	broad.mit.edu	37	7	99943553	99943553	+	RNA	DEL	T	T	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr7:99943553delT	uc022ail.1	+	3		c.346delT						Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 2, non-coding RNA.						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAGGGATTTTTTTTTTT	0.413													2	4	---	---	---	---					
AK308561	0	broad.mit.edu	37	9	68410007	68410009	+	RNA	DEL	CCT	CCT	-	rs111979970		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:68410007_68410009delCCT	uc004aew.1	+	0		c.10_12delCCT								Homo sapiens cDNA, FLJ98602.																		tctctctctccctctggttctat	0.532													2	4	---	---	---	---					
FRMD3	257019	broad.mit.edu	37	9	85924485	85924485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:85924485delA	uc004ams.2	-	9	1094	c.892delT	c.(892-894)tggfs	p.W298fs	FRMD3_uc004amr.1_Frame_Shift_Del_p.W298fs|FRMD3_uc022bja.1_Frame_Shift_Del_p.W254fs|FRMD3_uc022biz.1_Frame_Shift_Del_p.W104fs	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	298	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CCACACTTCCAAAGATGTTTG	0.338													9	9	---	---	---	---					
MRVI1	10335	broad.mit.edu	37	11	10625994	10625996	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:10625994_10625996delCTC	uc010rcc.1	-	12	2085_2087	c.1699_1701delGAG	c.(1699-1701)gagdel	p.E567del	MRVI1_uc010rcb.1_In_Frame_Del_p.E559del|MRVI1_uc001miw.2_In_Frame_Del_p.E558del|MRVI1_uc001mix.3_In_Frame_Del_p.E252del|MRVI1_uc001miz.2_In_Frame_Del_p.E476del|MRVI1_uc010rcd.1_In_Frame_Del_p.E361del|MRVI1_uc009ygd.1_In_Frame_Del_p.E252del|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	540					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		p.R566R(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCTCAGTGTTCTCCTCTGTCAGG	0.473													45	13	---	---	---	---					
C3AR1	719	broad.mit.edu	37	12	8211663	8211663	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:8211663delG	uc001qtv.1	-	1	1211	c.1119delC	c.(1117-1119)agcfs	p.S373fs	C3AR1_uc021quj.1_Frame_Shift_Del_p.S373fs	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	373					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GAAAGGTTTTGCTCTGAGACT	0.512													64	47	---	---	---	---					
GOLGA6C	653641	broad.mit.edu	37	15	75561164	75561166	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr15:75561164_75561166delGAG	uc002azs.2	+	13	1569_1571	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E513del	DQ582071_uc002azu.1_5'Flank|DQ577530_uc010ulz.1_5'Flank	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN	Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.	513										ovary(1)	1						TCTGGACAGTGAGGAGGAGGAGG	0.635													3	5	---	---	---	---					
GHDC	84514	broad.mit.edu	37	17	40345560	40345562	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:40345560_40345562delGCA	uc002hzd.3	-	1	522_524	c.38_40delTGC	c.(37-42)ctgcca>cca	p.L13del	GHDC_uc002hzg.2_In_Frame_Del_p.L13del|GHDC_uc010wgg.2_In_Frame_Del_p.L13del|GHDC_uc002hze.4_In_Frame_Del_p.L13del|GHDC_uc002hzf.4_In_Frame_Del_p.L13del|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	13						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCCAATGTTGgcagcagcagcag	0.631													2	4	---	---	---	---					
ZNF335	63925	broad.mit.edu	37	20	44592260	44592260	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:44592260delA	uc002xqw.3	-	8	1508	c.1385delT	c.(1384-1386)ttgfs	p.L462fs	ZNF335_uc010zxk.2_Frame_Shift_Del_p.L307fs	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GAAGGGCCTCAAAAGTGGTTT	0.577													30	308	---	---	---	---					
