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
OR2M4	26245	broad.mit.edu	37	1	248402311	248402311	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:248402311T>C	uc010pzh.2	+	0	81	c.81T>C	c.(79-81)ctT>ctC	p.L27L		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACACCTTCCTTTTTTCTCTGG	0.463												
ZNF672	79894	broad.mit.edu	37	1	249142450	249142450	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:249142450T>G	uc001iex.3	+	3	1672	c.977T>G	c.(976-978)cTc>cGc	p.L326R	ZNF672_uc021pme.1_Missense_Mutation_p.L326R	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	Homo sapiens zinc finger protein 672 (ZNF672), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCTCGGACCTCACCAAGCAC	0.697												
ZNF692	55657	broad.mit.edu	37	1	249151478	249151478	+	Silent	SNP	G	G	T	rs141085159	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:249151478G>T	uc001ifc.2	-	3	641	c.430C>A	c.(430-432)Cgg>Agg	p.R144R	ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Silent_p.R149R|ZNF692_uc001iff.2_Silent_p.R144R	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAACTTCTCCGAGTAGTATGT	0.547												
LIPK	643414	broad.mit.edu	37	10	90497505	90497505	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr10:90497505T>C	uc010qmv.2	+	5	783	c.783T>C	c.(781-783)acT>acC	p.T261T		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	261					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TCCTATTTACTCTGAGTGGAT	0.383												
MUC5B	727897	broad.mit.edu	37	11	1272821	1272821	+	Missense_Mutation	SNP	G	G	A	rs56353324		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:1272821G>A	uc001lta.3	+	30	14770	c.14711G>A	c.(14710-14712)cGc>cAc	p.R4904H		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4904	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACCACCCGCACCCCTGCA	0.652												
OR51D1	390038	broad.mit.edu	37	11	4661423	4661423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:4661423C>T	uc010qyk.2	+	0	479	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGACCGCTTTGTGGC	0.542												
RBMXL2	27288	broad.mit.edu	37	11	7110545	7110545	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:7110545C>T	uc001mfc.2	+	0	381	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	65	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAAGGCCGCCGCCAGAGAC	0.647												
SLC17A6	57084	broad.mit.edu	37	11	22391734	22391734	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:22391734G>C	uc001mqk.3	+	8	1454	c.1041_splice	c.e8+1	p.K347_splice		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	347					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAATTAGCAAGGTATGTAAAA	0.279												
MPEG1	219972	broad.mit.edu	37	11	58978613	58978613	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:58978613A>G	uc001nnu.4	-	0	1882	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	576						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTGACGCAATAGGACACTTGG	0.602												
KCNJ8	3764	broad.mit.edu	37	12	21918727	21918727	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:21918727T>C	uc001rff.3	-	2	1543	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	402						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GAGGGAAGAATTGTTCCTTCG	0.408												
NTN4	59277	broad.mit.edu	37	12	96052972	96052972	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:96052972C>T	uc001tei.3	-	9	2226	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	NTN4_uc009ztf.3_Missense_Mutation_p.E570K|NTN4_uc009ztg.3_Missense_Mutation_p.E556K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	593	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTTATATCCTCATGTCCTGCT	0.368												
GLT8D2	83468	broad.mit.edu	37	12	104390581	104390581	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:104390581C>T	uc001tkh.1	-	7	1089	c.532G>A	c.(532-534)Gcg>Acg	p.A178T	GLT8D2_uc001tki.1_Missense_Mutation_p.A178T	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	178						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AAAGCCGCCGCGTGGCCCAGG	0.478												
ACACB	32	broad.mit.edu	37	12	109696853	109696853	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:109696853C>T	uc001tob.3	+	46	6555	c.6436C>T	c.(6436-6438)Cgg>Tgg	p.R2146W	ACACB_uc001toc.3_Missense_Mutation_p.R2146W|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.R812W	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2146	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGACTTCAACCGGGAGAAGTT	0.572												
ACAD10	80724	broad.mit.edu	37	12	112182642	112182642	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:112182642G>C	uc009zvx.3	+	13	2203	c.2003G>C	c.(2002-2004)aGc>aCc	p.S668T	ACAD10_uc001tsp.3_Missense_Mutation_p.S637T|ACAD10_uc001tsq.3_Missense_Mutation_p.S637T|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	637							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.Y667F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGGAGTTATAGCTCCGTTCCA	0.562												
NUFIP1	26747	broad.mit.edu	37	13	45554922	45554922	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr13:45554922C>T	uc001uzp.2	-	2	571	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	177					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCACAGGTATCACAAAAAAAG	0.313												
ESRRB	2103	broad.mit.edu	37	14	76905790	76905790	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr14:76905790C>T	uc001xsr.3	+	3	465	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.H32Y	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCCCTCAGCCACCACAGCCC	0.682												
RYR3	6263	broad.mit.edu	37	15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr15:34130561C>T	uc001zhi.3	+	88	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_uc010bar.3_Missense_Mutation_p.A4122V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4127					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483												
SLC35G3	146861	broad.mit.edu	37	17	33521189	33521189	+	Silent	SNP	A	A	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr17:33521189A>C	uc002hjd.2	-	0	224	c.138T>G	c.(136-138)ggT>ggG	p.G46G		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	46						integral to membrane											GCAGGCCCCCACCCAGCAGGG	0.682												
CDC42EP4	23580	broad.mit.edu	37	17	71282053	71282053	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr17:71282053G>A	uc002jjn.3	-	1	734	c.587C>T	c.(586-588)gCc>gTc	p.A196V	CDC42EP4_uc002jjo.3_Missense_Mutation_p.A196V|CDC42EP4_uc002jjp.1_Missense_Mutation_p.A126V|CDC42EP4_uc021ucn.1_Missense_Mutation_p.A196V	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	196					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCCGTACGTGGCCTTGGGCAC	0.632												
EPB41L3	23136	broad.mit.edu	37	18	5428421	5428421	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr18:5428421C>G	uc002kmt.1	-	8	1042	c.956G>C	c.(955-957)gGt>gCt	p.G319A	EPB41L3_uc010wzh.1_Missense_Mutation_p.G319A|EPB41L3_uc002kmu.1_Missense_Mutation_p.G319A|EPB41L3_uc010dkq.1_Missense_Mutation_p.G210A|EPB41L3_uc010dks.1_Missense_Mutation_p.G341A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	319	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TATCAACAGACCACTTGCACA	0.393												
ATCAY	85300	broad.mit.edu	37	19	3907818	3907818	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:3907818G>A	uc010xhz.2	+	5	946	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	ATCAY_uc002lyy.4_Missense_Mutation_p.A149T|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	149					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGGCAGCGCCGCCAACGGGCG	0.642												
ZNF536	9745	broad.mit.edu	37	19	30935903	30935903	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:30935903C>G	uc002nsu.1	+	1	1572	c.1434C>G	c.(1432-1434)caC>caG	p.H478Q	ZNF536_uc010edd.1_Missense_Mutation_p.H478Q	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCATGGCCCACGGCGTCCCGG	0.662												
MLL2	9757	broad.mit.edu	37	19	36214780	36214780	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:36214780C>G	uc021usv.1	+	7	3206	c.3206C>G	c.(3205-3207)tCc>tGc	p.S1069C	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	831	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.S1071F(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GAGCAGGACTCCCTCCTGCAG	0.716			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
MARK4	57787	broad.mit.edu	37	19	45774954	45774954	+	Silent	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:45774954G>A	uc002pbb.2	+	7	1105	c.774G>A	c.(772-774)ggG>ggA	p.G258G	MARK4_uc002paz.2_Missense_Mutation_p.G69D|MARK4_uc002pba.2_Silent_p.G258G|MARK4_uc002pbc.1_Silent_p.G124G	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	258	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTTCGACGGGCACAACCTCA	0.657												
SIGLEC6	946	broad.mit.edu	37	19	52034451	52034451	+	Silent	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:52034451G>A	uc002pwy.3	-	1	598	c.390C>T	c.(388-390)taC>taT	p.Y130Y	SIGLEC6_uc002pwz.3_Silent_p.Y130Y|SIGLEC6_uc010ydb.2_Silent_p.Y94Y|SIGLEC6_uc010ydc.2_Silent_p.Y130Y|SIGLEC6_uc002pxa.3_Silent_p.Y130Y|SIGLEC6_uc010eoz.2_Silent_p.Y130Y|SIGLEC6_uc010epa.2_Silent_p.Y119Y|SIGLEC6_uc010epb.2_Silent_p.Y83Y	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	130					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATGTATAACCGTATTTCATCC	0.547												
HS1BP3	64342	broad.mit.edu	37	2	20840922	20840922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr2:20840922C>A	uc002rdw.1	-	2	258	c.217G>T	c.(217-219)Gag>Tag	p.E73*	HS1BP3_uc002rdx.3_Nonsense_Mutation_p.E73*|HS1BP3_uc002rdy.3_Nonsense_Mutation_p.E73*	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	73	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCAATCTCGCTGTACTTT	0.547												
SLC4A10	57282	broad.mit.edu	37	2	162804208	162804208	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr2:162804208T>C	uc002ubx.4	+	16	2420	c.2236T>C	c.(2236-2238)Ttc>Ctc	p.F746L	SLC4A10_uc010zcs.2_Missense_Mutation_p.F727L|SLC4A10_uc002uby.4_Missense_Mutation_p.F716L	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	746					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGAAGCAGTTCAAGACTAG	0.383												
C20orf152	140894	broad.mit.edu	37	20	34572591	34572591	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr20:34572591G>A	uc002xer.1	+	5	763	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	C20orf152_uc002xes.1_Missense_Mutation_p.V203I|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	203								p.V203I(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GTCCACCATCGTCTGTATGGA	0.527												
FGD5	152273	broad.mit.edu	37	3	14942566	14942566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:14942566delG	uc003bzc.3	+	8	3372	c.3262delG	c.(3262-3264)gggfs	p.G1088fs	FGD5_uc011avk.2_Frame_Shift_Del_p.G1088fs|FGD5_uc003bzd.3_Frame_Shift_Del_p.G166fs	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1088					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CATGGAGCAAGGGGTGAGTGC	0.642												
RPL15	6138	broad.mit.edu	37	3	23959481	23959481	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:23959481G>A	uc003ccr.3	+	1	524	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	NKIRAS1_uc003cck.3_Intron|NKIRAS1_uc003ccj.3_5'Flank|RPL15_uc011awi.2_Missense_Mutation_p.R44Q|RPL15_uc011awj.2_Missense_Mutation_p.R44Q|RPL15_uc003ccn.3_Missense_Mutation_p.R44Q|RPL15_uc003cco.3_Missense_Mutation_p.R44Q|RPL15_uc003ccp.3_Missense_Mutation_p.R44Q|RPL15_uc003ccq.3_Missense_Mutation_p.R44Q|RPL15_uc021wub.1_Missense_Mutation_p.R44Q	NM_001253379	NP_001240308	P61313	RL15_HUMAN	Homo sapiens ribosomal protein L15 (RPL15), transcript variant 2, mRNA.	44					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						CGCCCCACCCGGCCTGATAAA	0.557												
TRAT1	50852	broad.mit.edu	37	3	108568057	108568057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:108568057G>T	uc003dxi.1	+	4	403	c.259G>T	c.(259-261)Gag>Tag	p.E87*	TRAT1_uc010hpx.1_Nonsense_Mutation_p.E50*	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	87					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.P86R(1)|p.E87D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGCCCGACCAGAGAAATCTGT	0.353												
UROC1	131669	broad.mit.edu	37	3	126236443	126236443	+	Silent	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:126236443C>T	uc010hsi.2	-	0	174	c.120G>A	c.(118-120)gaG>gaA	p.E40E	UROC1_uc003eiz.2_Silent_p.E40E	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	40					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTACCTGTTTCTCCACAGGGC	0.677												
CLCN2	1181	broad.mit.edu	37	3	184071135	184071135	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:184071135C>T	uc003foi.3	-	16	2055	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	CLCN2_uc003foh.3_Missense_Mutation_p.R168H|CLCN2_uc010hya.2_Missense_Mutation_p.R627H|CLCN2_uc011brl.2_Missense_Mutation_p.R644H|CLCN2_uc011brm.2_Missense_Mutation_p.R600H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	644			R -> C (no effect).			chloride channel complex	voltage-gated chloride channel activity	p.A643>?(4)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCCGCCGGCGGGCTGGGCT	0.627												
LPP	4026	broad.mit.edu	37	3	188327129	188327129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:188327129C>T	uc003frs.2	+	5	856	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	LPP_uc011bsg.2_Nonsense_Mutation_p.Q204*|LPP_uc011bsi.2_Nonsense_Mutation_p.Q204*|LPP_uc003frt.3_Nonsense_Mutation_p.Q204*|LPP_uc011bsj.2_Nonsense_Mutation_p.Q41*	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	204	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCCCAGCCTCAGCCAGTCCC	0.567			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""							
ZNF518B	85460	broad.mit.edu	37	4	10445311	10445311	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr4:10445311G>T	uc003gmn.3	-	2	3129	c.2642C>A	c.(2641-2643)tCc>tAc	p.S881Y	ZNF518B_uc021xme.1_Missense_Mutation_p.S881Y	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGACTTCTGGAAAGCAGTCT	0.403												
PRDM9	56979	broad.mit.edu	37	5	23527628	23527628	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:23527628C>T	uc003jgo.3	+	10	2613	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	811					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.572										HNSCC(3;0.000094)		
TRIM23	373	broad.mit.edu	37	5	64887666	64887666	+	Missense_Mutation	SNP	A	A	G	rs150920611		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:64887666A>G	uc003jty.3	-	10	1741	c.1655T>C	c.(1654-1656)aTg>aCg	p.M552T	TRIM23_uc003jtw.3_Intron|TRIM23_uc003jtx.3_Intron	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	552	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATACAGTCCCATACCACTTCG	0.458												
SLCO6A1	133482	broad.mit.edu	37	5	101834438	101834438	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:101834438T>C	uc003knn.3	-	0	283	c.111A>G	c.(109-111)ggA>ggG	p.G37G	SLCO6A1_uc003kno.3_Silent_p.G37G|SLCO6A1_uc003knp.3_Silent_p.G37G|SLCO6A1_uc003knq.3_Silent_p.G37G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	37						integral to membrane|plasma membrane	transporter activity	p.G37R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCGGGGTTCCCTTGGCCC	0.602												
PCDHGC5	56113	broad.mit.edu	37	5	140719925	140719925	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:140719925G>A	uc003ljk.2	+	0	1572	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.E463K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	465	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACATTCCCGAAAACAACCC	0.562												
COL11A2	1302	broad.mit.edu	37	6	33152017	33152017	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:33152017C>A	uc003ocx.1	-	7	1252	c.1024G>T	c.(1024-1026)Ggg>Tgg	p.G342W	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	342	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCGTAGGGCCCTTCAGGGGGG	0.612												
Unknown	653639	broad.mit.edu	37	6	33333333	33333333	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:33333333G>A								DAXX (42540 upstream) : KIFC1 (25980 downstream)																							AGTTAGACAGGAGGCAGCAGC	0.577												
Unknown	653639	broad.mit.edu	37	6	33333342	33333342	+	Silent	SNP	G	G	A	rs140475230	by1000genomes	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:33333342G>A								DAXX (42549 upstream) : KIFC1 (25971 downstream)																							GGAGGCAGCAGCTTCTCAAGA	0.562												
MMS22L	253714	broad.mit.edu	37	6	97702431	97702431	+	Splice_Site	SNP	A	A	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:97702431A>C	uc003ppb.3	-	10	1385	c.1119_splice	c.e10+1	p.M373_splice	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Splice_Site_p.M373_splice|MMS22L_uc010kcn.1_Splice_Site_p.M147_splice|MMS22L_uc003ppc.3_Missense_Mutation_p.V374G	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	373					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATGAAGTCTTACCATTTCATC	0.313												
RSBN1L	222194	broad.mit.edu	37	7	77408002	77408002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:77408002G>A	uc010ldt.1	+	7	2102	c.2058G>A	c.(2056-2058)tgG>tgA	p.W686*		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	686						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTTAGCATGGCATATTCGGC	0.388												
TSGA13	114960	broad.mit.edu	37	7	130365809	130365809	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:130365809C>T	uc003vqi.3	-	3	606	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	TSGA13_uc003vqj.3_Missense_Mutation_p.R50Q	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	50										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGTGTAATGCCGAAGGTTCTC	0.433												
MLL3	58508	broad.mit.edu	37	7	151962220	151962220	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:151962220C>A	uc003wla.3	-	7	1306	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	363					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.C362*(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TAGTGCTGACCACAAGTAGTA	0.448			N		medulloblastoma							
ADAM7	8756	broad.mit.edu	37	8	24339684	24339684	+	Silent	SNP	G	G	A	rs147649440		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:24339684G>A	uc003xeb.3	+	8	848	c.735G>A	c.(733-735)acG>acA	p.T245T	ADAM7_uc003xec.3_Silent_p.T17T	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	245	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCCATGTGACGTTGGTTGGCA	0.303												
OPRK1	4986	broad.mit.edu	37	8	54163341	54163341	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:54163341C>T	uc003xrh.1	-	1	632	c.257_splice	c.e1+1	p.R86_splice	OPRK1_uc022aup.1_Splice_Site|OPRK1_uc003xri.1_Splice_Site_p.R86_splice|OPRK1_uc010lyc.1_Splice_Site	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	86					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCGCGCTCACCGGATGATCAC	0.682												
KCNS2	3788	broad.mit.edu	37	8	99441436	99441436	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:99441436T>C	uc003yin.3	+	1	1579	c.1229T>C	c.(1228-1230)tTc>tCc	p.F410S	KCNS2_uc022azb.1_Missense_Mutation_p.F410S	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	410						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACCTTGATCTTCAATAAGTTC	0.552												
CSMD3	114788	broad.mit.edu	37	8	113256758	113256758	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:113256758C>T	uc003ynu.3	-	64	10426	c.10267G>A	c.(10267-10269)Gta>Ata	p.V3423I	CSMD3_uc003yns.3_Missense_Mutation_p.V2625I|CSMD3_uc003ynt.3_Missense_Mutation_p.V3383I|CSMD3_uc011lhx.2_Missense_Mutation_p.V3254I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3423	Sushi 28.					integral to membrane|plasma membrane		p.V3423I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCATCCCTACGACATTTGCA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
FER1L6	654463	broad.mit.edu	37	8	125047530	125047530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:125047530C>T	uc003yqw.3	+	18	2505	c.2299C>T	c.(2299-2301)Cga>Tga	p.R767*	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	767						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCCTGGGAAACGACCGGCTGG	0.493												
EPPK1	83481	broad.mit.edu	37	8	144940504	144940504	+	Silent	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:144940504G>A	uc003zaa.1	-	0	6931	c.6918C>T	c.(6916-6918)gcC>gcT	p.A2306A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2306						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCGGTGACGGCGCGCTCGG	0.701												
FRMD3	257019	broad.mit.edu	37	9	85924522	85924522	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr9:85924522T>C	uc004ams.2	-	9	1057	c.855A>G	c.(853-855)gcA>gcG	p.A285A	FRMD3_uc004amr.1_Silent_p.A285A|FRMD3_uc022bja.1_Silent_p.A241A|FRMD3_uc022biz.1_Silent_p.A91A	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	285	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						AAGTATGGAATGCCAACATGG	0.333												
CYLC2	1539	broad.mit.edu	37	9	105767700	105767700	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr9:105767700G>T	uc004bbs.2	+	4	857	c.787G>T	c.(787-789)Gat>Tat	p.D263Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	263	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.D263D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGCCAAGAAAGATGCAAAGGA	0.383												
MXRA5	25878	broad.mit.edu	37	X	3235658	3235658	+	Missense_Mutation	SNP	C	C	T	rs140532419	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chrX:3235658C>T	uc004crg.4	-	5	6221	c.6064G>A	c.(6064-6066)Gtc>Atc	p.V2022I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2022	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACTTATAGACGCCTCTGTCT	0.642												
