#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IGV	i_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
CSMD2	114784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	34209037	34209037	+	Missense_Mutation	SNP	C	C	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:34209037C>A	ENST00000373381.4	-	14	2193	c.2017G>T	c.(2017-2019)Gtc>Ttc	p.V673F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	633	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				TCCTTGATGACCAGGAAATCA	0.617																																					p.V633F													.	.			0			c.G1897T												78.0	79.0	79.0					1																	34209037		2203	4300	6503	SO:0001583	missense	114784	exon14			TGATGACCAGGAA	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2017G>T	1.37:g.34209037C>A	ENSP00000362479:p.Val673Phe		Somatic	57	0	0		WXS	Illumina HiSeq	.	55	0.22	12	NM_052896	0		0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	20.5	3.996432	0.74818	.	.	ENSG00000121904	ENST00000373381	T	0.18174	2.23	5.69	5.69	0.88448	CUB (5);	0.130894	0.52532	D	0.000074	T	0.27697	0.0681	N	0.25890	0.77	0.80722	D	1	P;P	0.49307	0.922;0.747	P;P	0.57009	0.811;0.74	T	0.00601	-1.1650	10	0.59425	D	0.04	.	19.1688	0.93569	0.0:1.0:0.0:0.0	.	633;673	Q7Z408;E7EUA6	CSMD2_HUMAN;.	F	673	ENSP00000362479:V673F	ENSP00000241312:V633F	V	-	1	0	CSMD2	33981624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.014000	0.64029	2.840000	0.97914	0.655000	0.94253	GTC			0.617	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_052896	
DMAP1	55929	mdanderson.org	37	1	44685093	44685093	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:44685093G>T	ENST00000372289.2	+	7	1185	c.922G>T	c.(922-924)Gca>Tca	p.A308S	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.A308S|DMAP1_ENST00000361745.6_Missense_Mutation_p.A308S	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	308					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TCCTGAGACTGCAGGCATCAA	0.572																																					p.A308S													.	.			0			c.G922T												91.0	75.0	80.0					1																	44685093		2203	4300	6503	SO:0001583	missense	55929	exon8			GAGACTGCAGGCA	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.922G>T	1.37:g.44685093G>T	ENSP00000361363:p.Ala308Ser		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_001034024	32	0.00	0	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	CCDS509.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393187	0.42410	.	.	ENSG00000178028	ENST00000361745;ENST00000315913;ENST00000372289	.	.	.	4.33	4.33	0.51752	DNA methyltransferase 1-associated 1 (2);	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	L	0.34521	1.04	0.80722	D	1	B;P	0.37573	0.228;0.6	B;B	0.35931	0.164;0.214	T	0.37731	-0.9693	9	0.09590	T	0.72	-14.9834	17.3607	0.87349	0.0:0.0:1.0:0.0	.	298;308	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	S	308	.	ENSP00000312697:A308S	A	+	1	0	DMAP1	44457680	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.218000	0.95166	2.420000	0.82092	0.491000	0.48974	GCA			0.572	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000020027.3		NM_019100	
TCTEX1D4	343521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	45271711	45271711	+	Silent	SNP	G	G	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:45271711G>A	ENST00000339355.2	-	1	636	c.630C>T	c.(628-630)ttC>ttT	p.F210F	BTBD19_ENST00000450269.1_5'Flank|TCTEX1D4_ENST00000372200.1_Silent_p.F210F|BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000453418.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	210						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					TGGCCACCGCGAAGAGCGAGG	0.657																																					p.F210F													.	.			0			c.C630T												19.0	21.0	20.0					1																	45271711		2200	4297	6497	SO:0001819	synonymous_variant	343521	exon2			CACCGCGAAGAGC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"""novel Tctex-1 family domain-containing protein"""	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.630C>T	1.37:g.45271711G>A			Somatic	66	0	0		WXS	Illumina HiSeq	.	67	0.28	19	NM_001013632	1	1.00	1		Silent	SNP	ENST00000339355.2	37	CCDS30699.1																																																																																					0.657	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000023733.1		NM_001013632	
NDC1	55706	mdanderson.org	37	1	54291599	54291599	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:54291599G>T	ENST00000371429.3	-	5	1064	c.466C>A	c.(466-468)Cct>Act	p.P156T	AL049745.1_ENST00000578163.1_RNA|NDC1_ENST00000234725.8_Missense_Mutation_p.P41T|NDC1_ENST00000540001.1_Missense_Mutation_p.P156T|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000480952.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	156					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TGCGCAGCAGGGCTACCAAAG	0.368																																					p.P156T													.	.			0			c.C466A												69.0	71.0	70.0					1																	54291599		2203	4300	6503	SO:0001583	missense	55706	exon5			CAGCAGGGCTACC	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.466C>A	1.37:g.54291599G>T	ENSP00000360483:p.Pro156Thr		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	31	0.10	3	NM_018087	1	0.00	0	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	G	3.584	-0.085097	0.07097	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000234725	T;T;T	0.39229	1.09;1.09;1.09	5.26	2.21	0.28008	.	0.708050	0.14423	N	0.320535	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B;B	0.27971	0.101;0.196	B;B	0.26310	0.049;0.068	T	0.13980	-1.0489	10	0.14656	T	0.56	.	2.167	0.03840	0.1803:0.2525:0.4405:0.1267	.	116;156	B4DHA3;Q9BTX1	.;NDC1_HUMAN	T	156;156;156;41	ENSP00000360483:P156T;ENSP00000440873:P156T;ENSP00000234725:P41T	ENSP00000234725:P41T	P	-	1	0	TMEM48	54064187	0.887000	0.30362	0.604000	0.28916	0.402000	0.30811	1.253000	0.32886	1.369000	0.46134	0.460000	0.39030	CCT			0.368	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022101.1		NM_018087	
MAGI3	260425	broad.mit.edu	37	1	114215976	114215976	+	Silent	SNP	A	A	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:114215976A>G	ENST00000307546.9	+	19	3153	c.3078A>G	c.(3076-3078)agA>agG	p.R1026R	MAGI3_ENST00000369615.1_Silent_p.R1026R|MAGI3_ENST00000369611.4_Silent_p.R1026R|MAGI3_ENST00000369617.4_Silent_p.R1051R	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1051					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTGGAGAGAGGCCCCCGGG	0.468																																					p.R1026R													.	MAGI3	181		0			c.A3078G												68.0	76.0	73.0					1																	114215976		2203	4300	6503	SO:0001819	synonymous_variant	260425	exon19			GGAGAGAGGCCCC	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3078A>G	1.37:g.114215976A>G			Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	129	0.02	3	NM_152900	0		0	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	CCDS44196.1																																																																																					0.468	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000032429.1		NM_152900	
TRIM45	80263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	117663450	117663450	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:117663450C>T	ENST00000256649.4	-	1	900	c.374G>A	c.(373-375)aGc>aAc	p.S125N	TRIM45_ENST00000369461.3_Missense_Mutation_p.S68N|TRIM45_ENST00000369464.3_Missense_Mutation_p.S125N	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	125					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CCCACGTAGGCTCTCCAGCAT	0.557																																					p.S125N													.	.			0			c.G374A												93.0	78.0	83.0					1																	117663450		2203	4300	6503	SO:0001583	missense	80263	exon1			CGTAGGCTCTCCA		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.374G>A	1.37:g.117663450C>T	ENSP00000256649:p.Ser125Asn		Somatic	120	0	0		WXS	Illumina HiSeq	.	103	0.25	26	NM_001145635	1	1.00	1	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	9.906	1.208258	0.22205	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	T;D;T	0.82893	-1.49;-1.66;-1.19	5.0	-0.434	0.12283	.	0.565966	0.20610	N	0.089000	T	0.41373	0.1156	N	0.11201	0.11	0.09310	N	1	B;B	0.16603	0.018;0.01	B;B	0.14578	0.011;0.005	T	0.44221	-0.9342	10	0.17369	T	0.5	-6.5751	9.4413	0.38670	0.0:0.5057:0.0:0.4943	.	125;125	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	N	125;125;68	ENSP00000256649:S125N;ENSP00000358476:S125N;ENSP00000358473:S68N	ENSP00000256649:S125N	S	-	2	0	TRIM45	117464973	0.956000	0.32656	0.812000	0.32479	0.974000	0.67602	0.660000	0.25009	0.032000	0.15435	0.561000	0.74099	AGC			0.557	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033503.1		NM_025188	
NBPF10	100132406	hgsc.bcm.edu	37	1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	rs55936365		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V													NBPF10,NS,carcinoma,0,2	NBPF10	0	2	2	Substitution - Missense(2)	kidney(2)	c.C130G																																									SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val		Somatic	51	0.0392156863	2		WXS	Illumina HiSeq	.	48	0.06	3	NM_001039703	1	0.00	0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT			0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding		OTTHUMT00000038550.3		NM_001039703	
NBPF10	100132406	broad.mit.edu	37	1	145311916	145311916	+	Missense_Mutation	SNP	A	A	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:145311916A>G	ENST00000369338.1	+	10	1355	c.1165A>G	c.(1165-1167)Ata>Gta	p.I389V	RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000342960.5_Intron|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	662						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.I389V(3)|p.Y388>?(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGCCTTTTACATATTGGAGCA	0.458																																					.													NBPF10_ENST00000369338,NS,carcinoma,0,3	NBPF10	221	3	4	Substitution - Missense(3)|Complex(1)	endometrium(2)|skin(2)	.												11.0	15.0	13.0					1																	145311916		689	1581	2270	SO:0001583	missense	100132406	.			TTTTACATATTGG	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.1165A>G	1.37:g.145311916A>G	ENSP00000358344:p.Ile389Val		Somatic	39	0.0256410256	1		WXS	Illumina HiSeq	Phase_I	51	0.08	4	.	1	0.00	0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.138213	0.00030	.	.	ENSG00000163386	ENST00000369338;ENST00000369364	T	0.05996	3.36	0.711	-1.42	0.08913	.	.	.	.	.	T	0.00440	0.0014	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40961	-0.9535	6	0.02654	T	1	.	2.2894	0.04135	0.4429:0.3027:0.2544:0.0	.	.	.	.	V	389;66	ENSP00000358344:I389V	ENSP00000358344:I389V	I	+	1	0	NBPF10	144023273	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.845000	0.00735	-2.313000	0.00648	-2.094000	0.00368	ATA			0.458	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding		OTTHUMT00000038552.1		NM_001039703	
RUSC1	23623	broad.mit.edu	37	1	155292770	155292770	+	Silent	SNP	A	A	C			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:155292770A>C	ENST00000368352.5	+	2	1357	c.1206A>C	c.(1204-1206)ccA>ccC	p.P402P	RUSC1_ENST00000368354.3_Silent_p.P402P|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	402					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCGGCCCCCACCCCCGCCTG	0.726																																					p.P402P													.	RUSC1	85		0			c.A1206C																																									SO:0001819	synonymous_variant	23623	exon2			GCCCCCACCCCCG	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1206A>C	1.37:g.155292770A>C			Somatic	39	0.358974359	14		WXS	Illumina HiSeq	Phase_I	39	0.54	21	NM_001105204	0		0	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																					0.726	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039071.1			
ASH1L	55870	broad.mit.edu	37	1	155340657	155340657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:155340657delT	ENST00000368346.3	-	11	7104	c.6465delA	c.(6463-6465)aaafs	p.K2155fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.K2150fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2155	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCCCCAACCTTTTTCCTCAG	0.502																																					p.K2150fs													.	ASH1L	279		0			c.6450delA												163.0	171.0	168.0					1																	155340657		2203	4300	6503	SO:0001589	frameshift_variant	55870	exon11			CCAACCTTTTTCC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6465delA	1.37:g.155340657delT	ENSP00000357330:p.Lys2155fs		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	183	0.04	7	NM_018489	1	0.00	0	Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37																																																																																						0.502	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000039400.1		NM_018489	
SH2D2A	9047	mdanderson.org	37	1	156783685	156783685	+	Silent	SNP	C	C	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:156783685C>T	ENST00000368199.3	-	5	675	c.522G>A	c.(520-522)ccG>ccA	p.P174P	SH2D2A_ENST00000368198.3_Silent_p.P156P|SH2D2A_ENST00000495306.1_5'Flank|NTRK1_ENST00000392302.2_5'Flank|SH2D2A_ENST00000392306.2_Silent_p.P184P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	174	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGGGCTGAGCGGGTGCGCGG	0.741																																					p.P184P													.	.			0			c.G552A												12.0	15.0	14.0					1																	156783685		2172	4224	6396	SO:0001819	synonymous_variant	9047	exon5			GCTGAGCGGGTGC	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.522G>A	1.37:g.156783685C>T			Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	16	0.13	2	NM_001161441	1	0.00	0	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	CCDS1159.1																																																																																					0.741	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000098982.1		NM_003975	
GUK1	2987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	228335314	228335314	+	Splice_Site	SNP	A	A	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:228335314A>G	ENST00000366718.1	+	6	817		c.e6-1		GUK1_ENST00000312726.4_Splice_Site|GUK1_ENST00000391865.3_Splice_Site|GUK1_ENST00000366723.1_Splice_Site|GUK1_ENST00000470040.1_Intron|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000366730.1_Splice_Site|GUK1_ENST00000366728.2_Splice_Site|GUK1_ENST00000366722.1_Intron|GUK1_ENST00000366721.1_Splice_Site|GUK1_ENST00000366716.1_Splice_Site|GUK1_ENST00000366726.1_Splice_Site	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CCCCCTTTTTAGGAGCAGCGG	0.657																																					.													.	.			0			c.391-2A>G												55.0	60.0	58.0					1																	228335314		2203	4300	6503	SO:0001630	splice_region_variant	2987	exon6			CTTTTTAGGAGCA	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.391-1A>G	1.37:g.228335314A>G			Somatic	57	0	0		WXS	Illumina HiSeq	.	96	0.36	35	NM_001242839	2	0.50	1	B1ANH1	Splice_Site	SNP	ENST00000366718.1	37	CCDS1568.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.318861	0.23994	.	.	ENSG00000143774	ENST00000366730;ENST00000391865;ENST00000366726;ENST00000312726;ENST00000366728;ENST00000453943;ENST00000366723;ENST00000435153;ENST00000366721;ENST00000412265;ENST00000366718;ENST00000366716;ENST00000420445	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1397	0.31076	0.9064:0.0:0.0936:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUK1	226401937	0.998000	0.40836	0.977000	0.42913	0.240000	0.25518	4.043000	0.57354	1.927000	0.55829	0.460000	0.39030	.			0.657	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000095944.1		NM_000858	Intron
STAM	8027	mdanderson.org	37	10	17747006	17747006	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr10:17747006G>T	ENST00000377524.3	+	11	1253	c.1038G>T	c.(1036-1038)aaG>aaT	p.K346N	STAM_ENST00000540523.1_Missense_Mutation_p.K235N	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	346					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTGATGAAAAGCTGGAAGATA	0.363																																					p.K346N													.	.			0			c.G1038T												149.0	141.0	144.0					10																	17747006		2203	4300	6503	SO:0001583	missense	8027	exon11			TGAAAAGCTGGAA	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1038G>T	10.37:g.17747006G>T	ENSP00000366746:p.Lys346Asn		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	70	0.06	4	NM_003473	1	0.00	0	B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129027	0.77549	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.41758	1.31;0.99	5.82	4.73	0.59995	.	0.044519	0.85682	D	0.000000	T	0.57242	0.2040	M	0.78456	2.415	0.58432	D	0.999998	D	0.76494	0.999	D	0.78314	0.991	T	0.54951	-0.8216	10	0.18276	T	0.48	-17.41	6.7421	0.23441	0.2447:0.0:0.7553:0.0	.	346	Q92783	STAM1_HUMAN	N	346;235	ENSP00000366746:K346N;ENSP00000438073:K235N	ENSP00000366746:K346N	K	+	3	2	STAM	17787012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.637000	0.24659	2.751000	0.94390	0.650000	0.86243	AAG			0.363	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047039.1		NM_003473	
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000458595.1_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542																																					p.P159P													KIAA1217,NS,carcinoma,+1,1	KIAA1217	235	1	0			c.T477C												62.0	63.0	63.0					10																	24669920		2203	4300	6503	SO:0001819	synonymous_variant	56243	exon3			AACCCCTTTTTCC	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.477T>C	10.37:g.24669920T>C			Somatic	70	0.0142857143	1		WXS	Illumina HiSeq	Phase_I	108	0.04	4	NM_019590	0		0	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																					0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047223.2		NM_019590	
FZD8	8325	mdanderson.org	37	10	35930317	35930317	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr10:35930317G>T	ENST00000374694.1	-	1	45	c.41C>A	c.(40-42)gCc>gAc	p.A14D	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	14					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CGCCAAGGCGGCCAGCAGCGA	0.716																																					p.A14D													.	.			0			c.C41A												41.0	39.0	40.0					10																	35930317		2201	4297	6498	SO:0001583	missense	8325	exon1			AAGGCGGCCAGCA	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.41C>A	10.37:g.35930317G>T	ENSP00000363826:p.Ala14Asp		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	34	0.09	3	NM_031866	0		0		Missense_Mutation	SNP	ENST00000374694.1	37	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282937	0.40394	.	.	ENSG00000177283	ENST00000374694	T	0.81415	-1.49	4.22	4.22	0.49857	.	0.868705	0.09796	U	0.754681	T	0.73118	0.3546	N	0.08118	0	0.32379	N	0.554794	D	0.55385	0.971	P	0.49012	0.598	T	0.74575	-0.3620	10	0.36615	T	0.2	.	16.1944	0.82018	0.0:0.0:1.0:0.0	.	14	Q9H461	FZD8_HUMAN	D	14	ENSP00000363826:A14D	ENSP00000363826:A14D	A	-	2	0	FZD8	35970323	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.220000	0.58567	1.915000	0.55452	0.462000	0.41574	GCC			0.716	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047575.2		NM_031866	
TUB	7275	mdanderson.org	37	11	8122144	8122144	+	Missense_Mutation	SNP	G	G	T	rs144050808	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr11:8122144G>T	ENST00000299506.2	+	10	1360	c.1211G>T	c.(1210-1212)cGc>cTc	p.R404L	TUB_ENST00000534099.1_Missense_Mutation_p.R410L|TUB_ENST00000305253.4_Missense_Mutation_p.R459L	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	404					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)	p.R459H(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ATCCGCCCCCGCAACGTGAGT	0.542																																					p.R459L													TUB,NS,carcinoma,0,1	TUB	0	1	1	Substitution - Missense(1)	stomach(1)	c.G1376T												137.0	108.0	118.0					11																	8122144		2201	4296	6497	SO:0001583	missense	7275	exon11			GCCCCCGCAACGT	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1211G>T	11.37:g.8122144G>T	ENSP00000299506:p.Arg404Leu		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_003320	0		0	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270493	0.59540	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.84660	-1.88;-1.88;-1.88	4.59	3.68	0.42216	Tubby, C-terminal (3);	0.055535	0.64402	D	0.000001	T	0.80717	0.4676	L	0.42632	1.34	0.80722	D	1	B;B;B	0.25048	0.027;0.076;0.117	B;B;B	0.32211	0.027;0.133;0.142	T	0.74919	-0.3500	10	0.28530	T	0.3	-18.1139	12.8718	0.57968	0.0807:0.0:0.9193:0.0	.	410;404;459	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	L	410;459;404	ENSP00000434400:R410L;ENSP00000305426:R459L;ENSP00000299506:R404L	ENSP00000299506:R404L	R	+	2	0	TUB	8078720	1.000000	0.71417	0.996000	0.52242	0.751000	0.42716	5.734000	0.68580	1.074000	0.40909	-0.253000	0.11424	CGC			0.542	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385823.1		NM_003320	
NAALADL1	10004	mdanderson.org	37	11	64820723	64820723	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr11:64820723G>T	ENST00000358658.3	-	8	1192	c.1165C>A	c.(1165-1167)Ctc>Atc	p.L389I	NAALADL1_ENST00000340252.4_Missense_Mutation_p.L440I|NAALADL1_ENST00000355721.3_Missense_Mutation_p.L348I|NAALADL1_ENST00000356632.3_Missense_Mutation_p.L354I|NAALADL1_ENST00000339885.2_Missense_Mutation_p.L389I|NAALADL1_ENST00000355369.2_Missense_Mutation_p.L389I	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	389	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ACACGGGAGAGCTCCAGGAGG	0.677																																					p.L389I													.	.			0			c.C1165A												17.0	15.0	15.0					11																	64820723		2154	4232	6386	SO:0001583	missense	10004	exon8			GGGAGAGCTCCAG	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1165C>A	11.37:g.64820723G>T	ENSP00000351484:p.Leu389Ile		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	33	0.09	3	NM_005468	0		0	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	3.136	-0.177448	0.06380	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	4.27	-3.28	0.05033	Peptidase M28 (1);	0.825179	0.10645	N	0.650517	T	0.19087	0.0458	N	0.05554	-0.025	0.28957	N	0.890066	B	0.10296	0.003	B	0.17979	0.02	T	0.39418	-0.9615	10	0.02654	T	1	-4.9291	7.3126	0.26483	0.0:0.3205:0.1884:0.491	.	389	Q9UQQ1	NALDL_HUMAN	I	389;389;389;389;440;348;354	ENSP00000351484:L389I;ENSP00000347530:L389I;ENSP00000340111:L389I;ENSP00000344244:L440I;ENSP00000347955:L348I;ENSP00000349045:L354I	ENSP00000340111:L389I	L	-	1	0	NAALADL1	64577299	0.562000	0.26586	0.956000	0.39512	0.883000	0.51084	-0.495000	0.06443	-0.354000	0.08212	0.655000	0.94253	CTC			0.677	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385162.1		NM_005468	
SIPA1	6494	mdanderson.org	37	11	65413325	65413325	+	Splice_Site	SNP	C	C	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr11:65413325C>T	ENST00000394224.3	+	6	1456	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M	SIPA1_ENST00000527525.1_Splice_Site_p.T387M|SIPA1_ENST00000394227.3_Splice_Site_p.T387M|SIPA1_ENST00000534313.1_Splice_Site_p.T387M	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	387	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTGGCCACAGCGGATTCCACA	0.542																																					p.T387M													.	.			0			c.C1160T												149.0	111.0	124.0					11																	65413325		2201	4297	6498	SO:0001630	splice_region_variant	6494	exon6			CCACAGCGGATTC	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1160-1C>T	11.37:g.65413325C>T			Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_006747	0		0	O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227818	0.79576	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	4.31	4.31	0.51392	Rap/ran-GAP (2);	0.114392	0.32147	U	0.006516	D	0.96497	0.8857	M	0.80508	2.5	0.53688	D	0.999973	D;D	0.71674	0.989;0.998	P;P	0.60345	0.674;0.873	D	0.96931	0.9681	10	0.66056	D	0.02	.	14.646	0.68762	0.0:1.0:0.0:0.0	.	387;387	F6RY50;Q96FS4	.;SIPA1_HUMAN	M	387	ENSP00000436269:T387M;ENSP00000433686:T387M;ENSP00000377771:T387M;ENSP00000377774:T387M	ENSP00000377771:T387M	T	+	2	0	SIPA1	65169901	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.849000	0.69465	2.119000	0.64992	0.462000	0.41574	ACG			0.542	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390356.1		NM_006747	Missense_Mutation
CTSW	1521	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	65648922	65648922	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr11:65648922G>T	ENST00000307886.3	+	3	263	c.217G>T	c.(217-219)Gct>Tct	p.A73S	CTSW_ENST00000528419.1_Missense_Mutation_p.A73S	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	73					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCTGGCCCAGGCTCAGAGGCT	0.577																																					p.A73S													.	CTSW	18		0			c.G217T												258.0	242.0	247.0					11																	65648922		2201	4296	6497	SO:0001583	missense	1521	exon3			GCCCAGGCTCAGA	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.217G>T	11.37:g.65648922G>T	ENSP00000311300:p.Ala73Ser		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	54	0.09	5	NM_001335	1	0.00	0	Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673783	0.67928	.	.	ENSG00000172543	ENST00000307886;ENST00000528419;ENST00000526034	D;D;D	0.85955	-2.05;-2.05;-2.05	5.85	5.85	0.93711	Proteinase inhibitor I29, cathepsin propeptide (2);	0.000000	0.64402	D	0.000002	D	0.93145	0.7817	M	0.89478	3.035	0.44000	D	0.996707	P;D	0.64830	0.786;0.994	P;D	0.69307	0.833;0.963	D	0.93805	0.7104	10	0.72032	D	0.01	.	15.6617	0.77193	0.0:0.0:1.0:0.0	.	73;73	P56202;E9PI30	CATW_HUMAN;.	S	73;73;72	ENSP00000311300:A73S;ENSP00000436568:A73S;ENSP00000434267:A72S	ENSP00000311300:A73S	A	+	1	0	CTSW	65405498	1.000000	0.71417	0.918000	0.36340	0.275000	0.26752	5.786000	0.69006	2.772000	0.95346	0.655000	0.94253	GCT			0.577	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391042.1		NM_001335	
NAALAD2	10003	mdanderson.org	37	11	89924798	89924798	+	Silent	SNP	C	C	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr11:89924798C>A	ENST00000534061.1	+	19	2336	c.2106C>A	c.(2104-2106)atC>atA	p.I702I	NAALAD2_ENST00000321955.4_Silent_p.I669I|NAALAD2_ENST00000375944.3_Missense_Mutation_p.S290Y	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	702					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATGATGCTATCTTTGATATTG	0.368																																					p.I702I													.	.			0			c.C2106A												97.0	97.0	97.0					11																	89924798		2201	4298	6499	SO:0001819	synonymous_variant	10003	exon19			TGCTATCTTTGAT	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.2106C>A	11.37:g.89924798C>A			Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	22	0.09	2	NM_005467	3	0.00	0	B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129874	0.37630	.	.	ENSG00000077616	ENST00000375944	T	0.13538	2.58	5.26	2.13	0.27403	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.28507	N	0.913715	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	7	.	.	.	-4.8018	10.628	0.45519	0.0698:0.2569:0.6732:0.0	.	290	Q4KKV4	.	Y	290	ENSP00000365111:S290Y	.	S	+	2	0	NAALAD2	89564446	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.657000	0.46724	0.717000	0.32145	-0.531000	0.04308	TCT			0.368	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389424.2		NM_005467	
CHD4	1108	hgsc.bcm.edu	37	12	6711150	6711150	+	Missense_Mutation	SNP	C	C	A	rs150832622	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr12:6711150C>A	ENST00000357008.2	-	4	577	c.414G>T	c.(412-414)gaG>gaT	p.E138D	CHD4_ENST00000309577.6_Missense_Mutation_p.E138D|CHD4_ENST00000544040.1_Missense_Mutation_p.E131D|CHD4_ENST00000544484.1_Missense_Mutation_p.E135D	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	138	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CATCAtcctcctcctcctcct	0.458													.|||	6	0.00119808	0.0023	0.0043	5008	,	,		21622	0.0		0.0	False		,,,				2504	0.0				p.E138D	Colon(32;586 792 4568 16848 45314)												.	.			0			c.G414T												36.0	38.0	37.0					12																	6711150		2188	4279	6467	SO:0001583	missense	1108	exon4			ATCCTCCTCCTCC	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.414G>T	12.37:g.6711150C>A	ENSP00000349508:p.Glu138Asp		Somatic	30	0	0		WXS	Illumina HiSeq	.	94	0.04	4	NM_001273	4	0.00	0	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	4	0.0018315018315018315	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	0	0.0	C	1.250	-0.618946	0.03663	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90324	-2.64;-2.65;-2.65;-2.65;0.9	5.64	0.387	0.16259	.	0.062426	0.64402	D	0.000007	T	0.65903	0.2736	N	0.03983	-0.305	0.41034	D	0.985179	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.52668	-0.8545	10	0.19590	T	0.45	.	5.795	0.18381	0.0:0.5151:0.1262:0.3587	.	138;138;131	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	D	135;131;138;138;112;138	ENSP00000440392:E135D;ENSP00000440542:E131D;ENSP00000312419:E138D;ENSP00000349508:E138D;ENSP00000437506:E138D	ENSP00000312419:E138D	E	-	3	2	CHD4	6581411	0.727000	0.28069	0.982000	0.44146	0.111000	0.19643	-0.175000	0.09825	0.062000	0.16340	-0.237000	0.12165	GAG	0.002		0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001273	
FAM186A	121006	hgsc.bcm.edu	37	12	50747102	50747102	+	Silent	SNP	A	A	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr12:50747102A>G	ENST00000327337.5	-	4	3512	c.3513T>C	c.(3511-3513)ctT>ctC	p.L1171L	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Silent_p.L1171L	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1171								p.L1171L(2)									GCTGAGGGGTAAGAGGGATCC	0.642																																					p.L1171L	NSCLC(138;1796 1887 12511 19463 37884)												FAM186A_ENST00000327337,NS,carcinoma,0,3	FAM186A_ENST00000327337	0	3	2	Substitution - coding silent(2)	endometrium(2)	c.T3513C												28.0	25.0	26.0					12																	50747102		692	1591	2283	SO:0001819	synonymous_variant	121006	exon4			AGGGGTAAGAGGG		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.3513T>C	12.37:g.50747102A>G			Somatic	99	0.0202020202	2		WXS	Illumina HiSeq	.	193	0.05	9	NM_001145475	0		0		Silent	SNP	ENST00000327337.5	37	CCDS44878.1																																																																																					0.642	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396838.1		XM_001718353	
KRT6B	3854	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	52841624	52841624	+	Silent	SNP	G	G	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr12:52841624G>A	ENST00000252252.3	-	7	1409	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	454	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGGCCAGCTTGACGTTCATCA	0.607																																					p.V454V													.	KRT6B	90		0			c.C1362T												140.0	125.0	130.0					12																	52841624		2203	4300	6503	SO:0001819	synonymous_variant	3854	exon7			CAGCTTGACGTTC	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1362C>T	12.37:g.52841624G>A			Somatic	112	0.0089285714	1		WXS	Illumina HiSeq	Phase_I	217	0.12	27	NM_005555	0		0	P48669	Silent	SNP	ENST00000252252.3	37	CCDS8828.1																																																																																					0.607	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404969.1		NM_005555	
SFSWAP	6433	mdanderson.org	37	12	132195838	132195838	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr12:132195838G>T	ENST00000261674.4	+	1	205	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	SFSWAP_ENST00000541286.1_Missense_Mutation_p.G22W	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	22					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGAGGAGGCCGGGCCAGGCGG	0.701																																					p.G22W													.	.			0			c.G64T												21.0	31.0	27.0					12																	132195838		2200	4296	6496	SO:0001583	missense	6433	exon1			GAGGCCGGGCCAG	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.64G>T	12.37:g.132195838G>T	ENSP00000261674:p.Gly22Trp		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	33	0.09	3	NM_001261411	3	0.00	0	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017006	0.75161	.	.	ENSG00000061936	ENST00000261674;ENST00000541286	T;T	0.11169	2.8;2.81	4.45	4.45	0.53987	.	0.203850	0.42172	D	0.000759	T	0.17365	0.0417	N	0.24115	0.695	0.39992	D	0.975053	D;D	0.76494	0.999;0.994	D;P	0.67231	0.95;0.847	T	0.01982	-1.1235	10	0.87932	D	0	-19.7156	10.7662	0.46295	0.0895:0.0:0.9105:0.0	.	22;22	F5H6B8;Q12872	.;SFSWA_HUMAN	W	22	ENSP00000261674:G22W;ENSP00000437738:G22W	ENSP00000261674:G22W	G	+	1	0	SFSWAP	130761791	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.570000	0.60872	2.196000	0.70406	0.561000	0.74099	GGG			0.701	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399276.1		NM_004592	
ZNF268	10795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	133779315	133779315	+	Missense_Mutation	SNP	T	T	C			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr12:133779315T>C	ENST00000536435.2	+	6	1373	c.1043T>C	c.(1042-1044)gTt>gCt	p.V348A	ZNF268_ENST00000537565.1_Missense_Mutation_p.V187A|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.V348A	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	348					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCACAGCTTGTTATACATCAG	0.393																																					p.V348A													.	.			0			c.T1043C												32.0	34.0	33.0					12																	133779315		2159	4284	6443	SO:0001583	missense	10795	exon6			AGCTTGTTATACA	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1043T>C	12.37:g.133779315T>C	ENSP00000444412:p.Val348Ala		Somatic	33	0	0		WXS	Illumina HiSeq	.	62	0.10	6	NM_001165881	2	1.00	2	Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	T	0.042	-1.281512	0.01398	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.35048	1.33;1.33	4.39	-8.32	0.00996	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14527	0.0351	N	0.12887	0.27	0.09310	N	1	B;B	0.23128	0.08;0.038	B;B	0.25506	0.061;0.014	T	0.26326	-1.0106	8	.	.	.	.	5.5954	0.17323	0.1031:0.4449:0.3139:0.1381	.	348;187	Q14587;Q14587-2	ZN268_HUMAN;.	A	348;348;187;187	ENSP00000228289:V348A;ENSP00000445713:V187A	.	V	+	2	0	ZNF268	132289388	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.520000	0.06252	-1.141000	0.02873	-1.136000	0.01936	GTT			0.393	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397191.2		NM_152943	
CLN5	1203	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	77574850	77574851	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr13:77574850_77574851insT	ENST00000377453.3	+	4	2262_2263	c.970_971insT	c.(970-972)gttfs	p.V324fs	FBXL3_ENST00000477982.1_5'Flank	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	275					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TGAAACATCTGTTTTTGGGCCA	0.366																																					p.V324fs													.	CLN5	32		0			c.970_971insT																																									SO:0001589	frameshift_variant	1203	exon4			ACATCTGTTTTTG		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.975dupT	13.37:g.77574855_77574855dupT	ENSP00000366673:p.Val324fs		Somatic	119	0	0		WXS	Illumina HiSeq	.	84	0.27	23	NM_006493	6	0.00	0	B3KQK7	Frame_Shift_Ins	INS	ENST00000377453.3	37	CCDS9456.1																																																																																					0.366	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045318.1		NM_006493	
CTSG	1511	mdanderson.org	37	14	25045411	25045411	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr14:25045411G>T	ENST00000216336.2	-	1	55	c.19C>A	c.(19-21)Ctg>Atg	p.L7M		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	7					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AAGGCCAGCAGAAGCAGGAGT	0.567																																					p.L7M													.	.			0			c.C19A												62.0	53.0	56.0					14																	25045411		2203	4300	6503	SO:0001583	missense	1511	exon1			CCAGCAGAAGCAG	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.19C>A	14.37:g.25045411G>T	ENSP00000216336:p.Leu7Met		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_001911	0		0	Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756612	0.49362	.	.	ENSG00000100448	ENST00000216336	D	0.94138	-3.36	5.29	3.43	0.39272	.	0.285942	0.18944	N	0.126867	D	0.95188	0.8440	M	0.68593	2.085	0.20196	N	0.99992	D	0.89917	1.0	D	0.85130	0.997	D	0.88060	0.2793	10	0.56958	D	0.05	.	8.539	0.33382	0.1886:0.0:0.8114:0.0	.	7	P08311	CATG_HUMAN	M	7	ENSP00000216336:L7M	ENSP00000216336:L7M	L	-	1	2	CTSG	24115251	0.034000	0.19679	0.684000	0.30055	0.054000	0.15201	0.618000	0.24373	1.374000	0.46228	0.655000	0.94253	CTG			0.567	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276536.2		NM_001911	
IGHV1-8	28472	broad.mit.edu	37	14	106539367	106539367	+	RNA	SNP	C	C	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr14:106539367C>G	ENST00000390599.2	-	0	124									immunoglobulin heavy variable 1-8																		GCACCAGCTGCACCTGGGAGT	0.527																																					.													.	.			0			.												78.0	61.0	67.0					14																	106539367		1785	3395	5180			0	.			CAGCTGCACCTGG	M99637		14q32.33	2012-02-08			ENSG00000211939			"""Immunoglobulins / IGH locus"""	5559	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152284		14.37:g.106539367C>G			Somatic	177	0.0056497175	1		WXS	Illumina HiSeq	Phase_I	245	0.02	6	.	12	0.08	1		RNA	SNP	ENST00000390599.2	37																																																																																						0.527	IGHV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene		OTTHUMT00000325672.1	rescued with RNA-seq	NG_001019	
RYR3	6263	mdanderson.org	37	15	33926901	33926901	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr15:33926901G>T	ENST00000389232.4	+	25	3212	c.3142G>T	c.(3142-3144)Ggg>Tgg	p.G1048W	RYR3_ENST00000415757.3_Missense_Mutation_p.G1048W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1048	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			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)		TGTTGGTTACGGGTATAACAT	0.478																																					p.G1048W													RYR3,extremity,malignant_melanoma,-1,1	RYR3	-1	1	0			c.G3142T												157.0	152.0	154.0					15																	33926901		1914	4138	6052	SO:0001583	missense	6263	exon25			GGTTACGGGTATA		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3142G>T	15.37:g.33926901G>T	ENSP00000373884:p.Gly1048Trp		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_001243996	0		0	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794586	0.90453	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.94687	-3.49;-3.49	5.2	5.2	0.72013	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98792	1.0736	10	0.87932	D	0	.	19.2916	0.94102	0.0:0.0:1.0:0.0	.	1048;1048	Q15413-2;Q15413	.;RYR3_HUMAN	W	1048	ENSP00000373884:G1048W;ENSP00000399610:G1048W	ENSP00000354735:G1048W	G	+	1	0	RYR3	31714193	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.483000	0.97937	2.861000	0.98227	0.655000	0.94253	GGG			0.478	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000417514.1			
RP11-24M17.5	0	broad.mit.edu	37	15	76075457	76075457	+	RNA	SNP	C	C	T	rs200753178	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr15:76075457C>T	ENST00000395215.3	+	0	1097				RN7SL319P_ENST00000480656.2_RNA																							TGAGAGGCTGCGAAAGCAGGA	0.607													.|||	4	0.000798722	0.0	0.0	5008	,	,		17147	0.003		0.001	False		,,,				2504	0.0				.													.	.			0			.																																											0	.			AGGCTGCGAAAGC																													15.37:g.76075457C>T			Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	177	0.03	6	.	0		0		RNA	SNP	ENST00000395215.3	37																																																																																						0.607	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000420501.1			
FES	2242	ucsc.edu	37	15	91435302	91435302	+	Silent	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr15:91435302G>T	ENST00000328850.3	+	13	1810	c.1668G>T	c.(1666-1668)ctG>ctT	p.L556L	FES_ENST00000394302.1_Silent_p.L428L|FES_ENST00000444422.2_Silent_p.L486L|FES_ENST00000450438.2_Silent_p.L428L|FES_ENST00000394300.3_Silent_p.L498L|FES_ENST00000414248.2_Silent_p.L428L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	556					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGTGGGTGCTGAACCATGAGG	0.597																																					p.L556L													.	FES	102		0			c.G1668T												224.0	205.0	212.0					15																	91435302		2198	4298	6496	SO:0001819	synonymous_variant	2242	exon13			GGTGCTGAACCAT	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1668G>T	15.37:g.91435302G>T			Somatic	36	0	0		WXS	Illumina HiSeq		35	0.11	4	NM_002005	1	0.00	0	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	CCDS10365.1																																																																																					0.597	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313497.1		NM_002005	
WDR90	197335	mdanderson.org	37	16	705434	705434	+	Silent	SNP	C	C	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:705434C>A	ENST00000293879.4	+	15	1684	c.1684C>A	c.(1684-1686)Cgg>Agg	p.R562R	WDR90_ENST00000549091.1_Silent_p.R562R|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	562										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CAAGCAGGCCCGGGACGGCTG	0.736																																					p.R562R													.	.			0			c.C1684A												9.0	15.0	13.0					16																	705434		2065	4159	6224	SO:0001819	synonymous_variant	197335	exon15			CAGGCCCGGGACG	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1684C>A	16.37:g.705434C>A			Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	21	0.10	2	NM_145294	0		0	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	CCDS42092.1																																																																																					0.736	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000404335.1		NM_145294	
IFT140	9742	mdanderson.org	37	16	1574816	1574816	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:1574816C>T	ENST00000426508.2	-	23	3329	c.2966G>A	c.(2965-2967)cGc>cAc	p.R989H	IFT140_ENST00000361339.5_Missense_Mutation_p.R183H	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	989					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCAGTGGATGCGGACCAGGGA	0.662																																					p.R989H													IFT140,NS,carcinoma,-1,1	IFT140	-1	1	0			c.G2966A												55.0	65.0	62.0					16																	1574816		2199	4300	6499	SO:0001583	missense	9742	exon23			TGGATGCGGACCA	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2966G>A	16.37:g.1574816C>T	ENSP00000406012:p.Arg989His		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_014714	0		0	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435616	0.96150	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.56275	0.47;0.47	5.53	4.56	0.56223	.	0.062488	0.64402	N	0.000003	T	0.77294	0.4109	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82317	-0.0517	10	0.56958	D	0.05	.	15.571	0.76337	0.1388:0.8612:0.0:0.0	.	989;676	Q96RY7;B4DR58	IF140_HUMAN;.	H	989;183;989	ENSP00000354895:R183H;ENSP00000406012:R989H	ENSP00000354895:R183H	R	-	2	0	IFT140	1514817	1.000000	0.71417	0.807000	0.32361	0.963000	0.63663	7.755000	0.85180	1.291000	0.44653	0.655000	0.94253	CGC			0.662	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250438.2		NM_014714	
FLYWCH1	84256	ucsc.edu	37	16	2983280	2983280	+	Missense_Mutation	SNP	G	G	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:2983280G>A	ENST00000253928.9	+	5	1351	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.A316T|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A315T			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	316						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CCGGAGCCGGGCCATCACCCA	0.672																																					p.A315T													.	FLYWCH1	27		0			c.G943A												21.0	25.0	24.0					16																	2983280		2112	4208	6320	SO:0001583	missense	84256	exon5			AGCCGGGCCATCA	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.946G>A	16.37:g.2983280G>A	ENSP00000253928:p.Ala316Thr		Somatic	29	0	0		WXS	Illumina HiSeq		30	0.13	4	NM_020912	0		0	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37		.	.	.	.	.	.	.	.	.	.	G	17.44	3.389520	0.61956	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.29	4.29	0.51040	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.69160	0.3080	M	0.80422	2.495	0.28665	N	0.905919	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.91	T	0.63892	-0.6534	8	0.66056	D	0.02	.	12.6112	0.56552	0.0:0.0:1.0:0.0	.	316;315	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	T	316;316;315	.	ENSP00000253928:A316T	A	+	1	0	FLYWCH1	2923281	0.961000	0.32948	0.951000	0.38953	0.890000	0.51754	2.186000	0.42593	2.127000	0.65507	0.561000	0.74099	GCC			0.672	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000436479.1		NM_032296	
SULT1A1	6817	hgsc.bcm.edu	37	16	28619841	28619841	+	Silent	SNP	G	G	T	rs201320226		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:28619841G>T	ENST00000395607.1	-	3	505	c.232C>A	c.(232-234)Cgg>Agg	p.R78R	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.R78R|SULT1A1_ENST00000314752.7_Silent_p.R78R|SULT1A1_ENST00000395609.1_Silent_p.R78R	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	78					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)	p.R78W(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	AAGGGCACCCGCATGAAGATG	0.587																																					p.R78R													SULT1A1,colon,carcinoma,0,1	SULT1A1	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C232A												124.0	95.0	105.0					16																	28619841		2197	4300	6497	SO:0001819	synonymous_variant	6817	exon2			GCACCCGCATGAA	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.232C>A	16.37:g.28619841G>T			Somatic	60	0	0		WXS	Illumina HiSeq	.	67	0.04	3	NM_177534	2	0.00	0	Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	ENST00000395607.1	37	CCDS32420.1																																																																																					0.587	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254694.2		NM_001055	
ITGAX	3687	mdanderson.org	37	16	31367992	31367992	+	Missense_Mutation	SNP	G	G	T	rs369769040		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:31367992G>T	ENST00000268296.4	+	3	311	c.190G>T	c.(190-192)Ggt>Tgt	p.G64C	ITGAX_ENST00000562918.1_3'UTR|ITGAX_ENST00000562522.1_Missense_Mutation_p.G64C	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	64					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAACCAAACGGGTGGCCTCTA	0.627																																					p.G64C													.	.			0			c.G190T							G	CYS/GLY	2,4392		0,2,2195	46.0	39.0	41.0		190	4.4	0.1	16		41	0,8596		0,0,4298	no	missense	ITGAX	NM_000887.3	159	0,2,6493	TT,TG,GG		0.0,0.0455,0.0154	probably-damaging	64/1164	31367992	2,12988	2197	4298	6495	SO:0001583	missense	3687	exon3			CAAACGGGTGGCC	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.190G>T	16.37:g.31367992G>T	ENSP00000268296:p.Gly64Cys		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_000887	2	0.00	0	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569367	0.65765	4.55E-4	0.0	ENSG00000140678	ENST00000268296	T	0.80566	-1.39	5.31	4.36	0.52297	.	.	.	.	.	D	0.91095	0.7197	M	0.93328	3.405	0.34767	D	0.733347	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94288	0.7526	9	0.87932	D	0	.	9.8468	0.41032	0.0953:0.0:0.9047:0.0	.	64;64	B4DKQ1;P20702	.;ITAX_HUMAN	C	64	ENSP00000268296:G64C	ENSP00000268296:G64C	G	+	1	0	ITGAX	31275493	0.997000	0.39634	0.058000	0.19502	0.102000	0.19082	5.190000	0.65104	1.232000	0.43678	0.484000	0.47621	GGT			0.627	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255628.2		NM_000887	
PKD1L2	114780	broad.mit.edu	37	16	81155069	81155069	+	RNA	DEL	A	A	-	rs557576474		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:81155069delA	ENST00000534142.1	-	0	1000				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						actccatctcaaaaaaaaaaa	0.527																																					.													.	PKD1L2	361		0			.																																											114780	.			CATCTCAAAAAAA	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81155069delA			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000534142.1	37																																																																																						0.527	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene		OTTHUMT00000387969.1			
ATP2C2	9914	mdanderson.org	37	16	84497330	84497330	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:84497330G>T	ENST00000262429.4	+	27	2922	c.2833G>T	c.(2833-2835)Gat>Tat	p.D945Y	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.D974Y	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	945					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCACCCTGAAGATGTGTAGTG	0.517																																					p.D945Y													.	.			0			c.G2833T												115.0	123.0	120.0					16																	84497330		1982	4151	6133	SO:0001583	missense	9914	exon27			CCTGAAGATGTGT	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2833G>T	16.37:g.84497330G>T	ENSP00000262429:p.Asp945Tyr		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	73	0.05	4	NM_014861	0		0	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736451	0.30774	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.93366	-3.18;-3.21	4.81	3.84	0.44239	.	.	.	.	.	D	0.86289	0.5897	N	0.08118	0	0.09310	N	1	B;B;P;P;P	0.44195	0.07;0.41;0.729;0.828;0.61	B;B;B;B;B	0.41946	0.123;0.094;0.264;0.371;0.135	T	0.78708	-0.2099	9	0.66056	D	0.02	.	11.8234	0.52252	0.0:0.0:0.8116:0.1883	.	974;794;794;962;945	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	Y	974;945;794	ENSP00000397925:D974Y;ENSP00000262429:D945Y	ENSP00000262429:D945Y	D	+	1	0	ATP2C2	83054831	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.804000	0.27098	0.972000	0.38314	0.655000	0.94253	GAT			0.517	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433404.1		NM_014861	
OR1G1	8390	mdanderson.org	37	17	3030495	3030495	+	Silent	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:3030495G>T	ENST00000328890.2	-	1	380	c.351C>A	c.(349-351)gtC>gtA	p.V117V		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	117					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CATAGGCCATGACCGCCAAGA	0.488																																					p.V117V	Colon(127;1481 1654 8243 19426 50557)												.	.			0			c.C351A												81.0	73.0	76.0					17																	3030495		2203	4300	6503	SO:0001819	synonymous_variant	8390	exon1			GGCCATGACCGCC	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.351C>A	17.37:g.3030495G>T			Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_003555	0		0	Q4VBM1|Q6IFL9|Q9UM76	Silent	SNP	ENST00000328890.2	37	CCDS11020.1																																																																																					0.488	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207206.2			
GP1BA	2811	mdanderson.org	37	17	4837656	4837656	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:4837656G>T	ENST00000329125.5	+	2	1832	c.1757G>T	c.(1756-1758)cGg>cTg	p.R586L		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	586					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CAGAGGGGACGGCAAGTGACA	0.622											OREG0024109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R586L													.	.			0			c.G1757T												131.0	149.0	143.0					17																	4837656		2107	4232	6339	SO:0001583	missense	2811	exon2			GGGGACGGCAAGT		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1757G>T	17.37:g.4837656G>T	ENSP00000329380:p.Arg586Leu		Somatic	67	0	0	621	WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_000173	0		0	E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	ENST00000329125.5	37	CCDS54068.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377215	0.42105	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.51574	0.7	4.91	1.29	0.21616	.	0.436856	0.16944	N	0.193149	T	0.40909	0.1136	L	0.32530	0.975	0.29843	N	0.82906	D	0.63880	0.993	P	0.51895	0.683	T	0.35251	-0.9796	10	0.51188	T	0.08	-6.7295	5.2236	0.15381	0.4836:0.0:0.5164:0.0	.	573	A5CKE2	.	L	586;560	ENSP00000329380:R586L	ENSP00000329380:R586L	R	+	2	0	GP1BA	4778397	0.987000	0.35691	0.892000	0.35008	0.499000	0.33736	1.250000	0.32850	0.449000	0.26747	0.460000	0.39030	CGG			0.622	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439889.1			
TNK1	8711	mdanderson.org	37	17	7292338	7292338	+	Missense_Mutation	SNP	C	C	T	rs375240414		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:7292338C>T	ENST00000576812.1	+	13	2305	c.1936C>T	c.(1936-1938)Cgc>Tgc	p.R646C	TNK1_ENST00000311668.2_Missense_Mutation_p.R641C|TNK1_ENST00000570896.1_Missense_Mutation_p.R641C	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				TGACTGCTGGCGCATCCTGGA	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		18062	0.0		0.0	False		,,,				2504	0.001				p.R646C													.	.			0			c.C1936T												24.0	28.0	27.0					17																	7292338		2003	4128	6131	SO:0001583	missense	8711	exon13			TGCTGGCGCATCC	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1936C>T	17.37:g.7292338C>T	ENSP00000459799:p.Arg646Cys		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_001251902	2	0.00	0		Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645528	0.47258	.	.	ENSG00000174292	ENST00000311668	T	0.77877	-1.13	5.73	3.71	0.42584	.	0.635768	0.14115	N	0.340447	T	0.81612	0.4859	L	0.54323	1.7	0.34261	D	0.679945	D;D	0.76494	0.999;0.998	P;P	0.59288	0.855;0.72	D	0.85062	0.0935	10	0.87932	D	0	.	9.2903	0.37782	0.1438:0.7788:0.0:0.0774	.	641;646	Q13470-2;Q13470	.;TNK1_HUMAN	C	641	ENSP00000312309:R641C	ENSP00000312309:R641C	R	+	1	0	TNK1	7233062	0.184000	0.23200	0.960000	0.40013	0.321000	0.28281	1.489000	0.35562	1.418000	0.47098	-0.182000	0.12963	CGC			0.627	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000440832.2		NM_003985	
TRAPPC1	58485	mdanderson.org	37	17	7834370	7834370	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:7834370C>T	ENST00000303731.4	-	3	383	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	CNTROB_ENST00000563694.1_5'Flank|TRAPPC1_ENST00000540486.1_Missense_Mutation_p.V90M|CNTROB_ENST00000380255.3_5'Flank|CNTROB_ENST00000565740.1_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000380262.3_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	90					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				ATGGGTCCCACGCCCAAGTCA	0.562																																					p.V90M													TRAPPC1,NS,carcinoma,+1,1	TRAPPC1	1	1	0			c.G268A												102.0	90.0	94.0					17																	7834370		2203	4300	6503	SO:0001583	missense	58485	exon3			GTCCCACGCCCAA	AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"""Trafficking protein particle complex"""	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.268G>A	17.37:g.7834370C>T	ENSP00000302783:p.Val90Met		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_021210	177	0.00	0	D3DTR0	Missense_Mutation	SNP	ENST00000303731.4	37	CCDS11125.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771613	0.49680	.	.	ENSG00000170043	ENST00000303731;ENST00000540486	T;T	0.44083	0.93;0.93	5.31	5.31	0.75309	Longin-like (1);	0.115379	0.64402	D	0.000019	T	0.36441	0.0967	L	0.47716	1.5	0.80722	D	1	P	0.52316	0.952	B	0.37144	0.242	T	0.31364	-0.9946	10	0.42905	T	0.14	-33.9784	17.737	0.88396	0.0:1.0:0.0:0.0	.	90	Q9Y5R8	TPPC1_HUMAN	M	90	ENSP00000302783:V90M;ENSP00000441130:V90M	ENSP00000302783:V90M	V	-	1	0	TRAPPC1	7775095	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	6.810000	0.75216	2.483000	0.83821	0.462000	0.41574	GTG			0.562	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226975.2		NM_021210	
MAPK7	5598	mdanderson.org	37	17	19283106	19283106	+	Missense_Mutation	SNP	G	G	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:19283106G>A	ENST00000308406.5	+	3	630	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.A82T|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82T|MAPK7_ENST00000299612.7_Intron|B9D1_ENST00000575403.1_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCAGCAGGTGGCCATCAAGAA	0.517																																					p.A82T													.	.			0			c.G244A												99.0	95.0	96.0					17																	19283106		2203	4300	6503	SO:0001583	missense	5598	exon3			CAGGTGGCCATCA	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.244G>A	17.37:g.19283106G>A	ENSP00000311005:p.Ala82Thr		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	19	0.11	2	NM_002749	0		0	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277357	0.95459	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112002	0.64402	D	0.000012	D	0.91529	0.7325	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94557	0.7759	10	0.87932	D	0	-16.6401	14.6711	0.68945	0.0:0.0:1.0:0.0	.	82	Q13164	MK07_HUMAN	T	82	ENSP00000311005:A82T;ENSP00000412902:A82T;ENSP00000378968:A82T;ENSP00000378966:A82T	ENSP00000311005:A82T	A	+	1	0	MAPK7	19223699	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.187000	0.94912	2.392000	0.81423	0.557000	0.71058	GCC			0.517	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132506.1		NM_139033	
SLC47A2	146802	mdanderson.org	37	17	19584743	19584743	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:19584743G>T	ENST00000325411.5	-	15	1487	c.1437C>A	c.(1435-1437)ttC>ttA	p.F479L	SLC47A2_ENST00000350657.5_Missense_Mutation_p.F457L|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	479					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CAGTTGCCAGGAAGACACAGG	0.592																																					p.F479L													.	.			0			c.C1437A												56.0	47.0	50.0					17																	19584743		2203	4300	6503	SO:0001583	missense	146802	exon15			TGCCAGGAAGACA	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1437C>A	17.37:g.19584743G>T	ENSP00000326671:p.Phe479Leu		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_152908	0		0	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	G	6.112	0.388940	0.11581	.	.	ENSG00000180638	ENST00000350657;ENST00000325411	T;T	0.30182	1.54;1.56	4.41	-0.284	0.12870	.	0.605156	0.17225	N	0.182179	T	0.07007	0.0178	N	0.01424	-0.875	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.10450	0.005;0.005;0.002	T	0.29336	-1.0015	10	0.06236	T	0.91	-0.8801	1.9513	0.03367	0.179:0.3268:0.3482:0.146	.	443;457;479	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	L	457;479	ENSP00000338084:F457L;ENSP00000326671:F479L	ENSP00000326671:F479L	F	-	3	2	SLC47A2	19525335	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.189000	0.09629	-0.196000	0.10366	0.467000	0.42956	TTC			0.592	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000132242.2		NM_152908	
RUNDC3A	10900	mdanderson.org	37	17	42393855	42393855	+	Silent	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:42393855G>T	ENST00000426726.3	+	9	1330	c.1056G>T	c.(1054-1056)ggG>ggT	p.G352G	RUNDC3A_ENST00000225441.7_Silent_p.G352G|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Silent_p.G347G	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	352					positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGCTTAATGGGGCCGAGGGCG	0.642																																					p.G352G	Pancreas(82;1061 1416 11136 20771 23901)												.	.			0			c.G1056T												16.0	18.0	17.0					17																	42393855		1916	4126	6042	SO:0001819	synonymous_variant	10900	exon9			TAATGGGGCCGAG	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.1056G>T	17.37:g.42393855G>T			Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	29	0.10	3	NM_006695	0		0	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Silent	SNP	ENST00000426726.3	37	CCDS45698.1																																																																																					0.642	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403173.2		NM_006695	
CDC27	996	hgsc.bcm.edu	37	17	45216113	45216113	+	Missense_Mutation	SNP	A	A	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:45216113A>G	ENST00000066544.3	-	13	1789	c.1696T>C	c.(1696-1698)Tcg>Ccg	p.S566P	CDC27_ENST00000527547.1_Missense_Mutation_p.S565P|CDC27_ENST00000446365.2_Missense_Mutation_p.S505P|CDC27_ENST00000531206.1_Missense_Mutation_p.S572P	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	566					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACCTCTGGCGAATTTTTATCC	0.353																																					p.S572P													CDC27_ENST00000531206,caecum,carcinoma,+1,6	CDC27_ENST00000531206	1	6	0			c.T1714C												50.0	55.0	53.0					17																	45216113		2201	4299	6500	SO:0001583	missense	996	exon13			CTGGCGAATTTTT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1696T>C	17.37:g.45216113A>G	ENSP00000066544:p.Ser566Pro		Somatic	30	0.0333333333	1		WXS	Illumina HiSeq	.	30	0.07	2	NM_001114091	9	0.00	0	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623261	0.87460	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.058252	0.64402	D	0.000001	T	0.71417	0.3337	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.73380	0.98;0.961;0.975;0.924	T	0.79176	-0.1911	10	0.87932	D	0	-9.281	13.77	0.63019	1.0:0.0:0.0:0.0	.	505;565;572;566	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	P	566;572;505;565	ENSP00000066544:S566P;ENSP00000434614:S572P;ENSP00000392802:S505P;ENSP00000437339:S565P	ENSP00000066544:S566P	S	-	1	0	CDC27	42571112	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.962000	0.93254	2.141000	0.66446	0.528000	0.53228	TCG			0.353	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2			
ANKRD30B	374860	mdanderson.org	37	18	14748616	14748616	+	Silent	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr18:14748616G>T	ENST00000358984.4	+	1	378	c.198G>T	c.(196-198)ctG>ctT	p.L66L	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.L66L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	66										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CCGTCAACCTGAACAAAAGAG	0.587																																					p.L66L													.	.			0			c.G198T												44.0	41.0	42.0					18																	14748616		692	1591	2283	SO:0001819	synonymous_variant	374860	exon1			CAACCTGAACAAA	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.198G>T	18.37:g.14748616G>T			Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_001145029	0		0	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																					0.587	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000443557.1		NM_001145029	
P2RY11	5032	mdanderson.org	37	19	10225090	10225090	+	Missense_Mutation	SNP	G	G	T	rs368370567		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr19:10225090G>T	ENST00000321826.4	+	2	985	c.801G>T	c.(799-801)atG>atT	p.M267I	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.M687I|PPAN_ENST00000556468.1_Missense_Mutation_p.M687I|PPAN-P2RY11_ENST00000428358.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	267					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			ACCACATCATGCGGGTGCTCA	0.667																																					p.M687I													PPAN-P2RY11,colon,carcinoma,+2,2	PPAN-P2RY11	2	2	0			c.G2061T												64.0	61.0	62.0					19																	10225090		2203	4300	6503	SO:0001583	missense	692312	exon13			CATCATGCGGGTG	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.801G>T	19.37:g.10225090G>T	ENSP00000323872:p.Met267Ile		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_001040664	15	0.00	0	B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	g	13.34	2.208710	0.39003	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.71222	-0.55;-0.55;-0.55	4.59	-9.19	0.00685	GPCR, rhodopsin-like superfamily (1);	1.108600	0.07092	U	0.838821	T	0.46795	0.1411	N	0.20986	0.625	0.09310	N	1	B	0.19817	0.039	B	0.22152	0.038	T	0.30794	-0.9966	10	0.34782	T	0.22	-1.5739	4.2296	0.10597	0.5356:0.103:0.2572:0.1042	.	267	Q96G91	P2Y11_HUMAN	I	687;687;267	ENSP00000377385:M687I;ENSP00000450710:M687I;ENSP00000323872:M267I	ENSP00000323872:M267I	M	+	3	0	PPAN;P2RY11;PPAN-P2RY11	10086090	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.719000	0.01873	-1.910000	0.01083	-0.265000	0.10407	ATG			0.667	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316664.2		NM_002566	
OCEL1	79629	mdanderson.org	37	19	17337509	17337509	+	Missense_Mutation	SNP	G	G	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr19:17337509G>A	ENST00000215061.4	+	2	121	c.77G>A	c.(76-78)cGc>cAc	p.R26H	OCEL1_ENST00000601529.1_Missense_Mutation_p.R26H|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_5'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	26										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CAGGCCGCCCGCAGACCACCC	0.741																																					p.R26H													.	.			0			c.G77A												3.0	5.0	4.0					19																	17337509		1781	3588	5369	SO:0001583	missense	79629	exon2			CCGCCCGCAGACC	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.77G>A	19.37:g.17337509G>A	ENSP00000215061:p.Arg26His		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	19	0.11	2	NM_024578	1	0.00	0		Missense_Mutation	SNP	ENST00000215061.4	37	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336616	0.81801	.	.	ENSG00000099330	ENST00000215061	T	0.45276	0.9	3.01	1.95	0.26073	.	0.150363	0.40554	N	0.001066	T	0.25158	0.0611	N	0.24115	0.695	0.27882	N	0.939633	B	0.26577	0.153	B	0.12156	0.007	T	0.20538	-1.0272	10	0.66056	D	0.02	.	8.5986	0.33732	0.1236:0.0:0.8764:0.0	.	26	Q9H607	OCEL1_HUMAN	H	26	ENSP00000215061:R26H	ENSP00000215061:R26H	R	+	2	0	OCEL1	17198509	0.010000	0.17322	0.992000	0.48379	0.943000	0.58893	-0.106000	0.10890	0.837000	0.34925	0.491000	0.48974	CGC			0.741	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463307.1		NM_024578	
CAPNS1	826	broad.mit.edu	37	19	36632054	36632054	+	Silent	SNP	C	C	T	rs17879825		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000588780.1_Silent_p.G47G|CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Silent_p.G47G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.141C>T	19.37:g.36632054C>T			Somatic	120	0.0166666667	2		WXS	Illumina HiSeq	Phase_I	103	0.10	10	NM_001749	1	1.00	1	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2			
CNOT3	4849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	54651887	54651887	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr19:54651887C>T	ENST00000406403.1	+	10	2502	c.899C>T	c.(898-900)cCa>cTa	p.P300L	CNOT3_ENST00000358389.3_Missense_Mutation_p.P119L|CNOT3_ENST00000221232.5_Missense_Mutation_p.P300L			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	300					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCGCAGTCTCCAGCCAAAAAC	0.677																																					p.P300L													.	.			0			c.C899T												24.0	25.0	25.0					19																	54651887		2187	4279	6466	SO:0001583	missense	4849	exon11			AGTCTCCAGCCAA	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.899C>T	19.37:g.54651887C>T	ENSP00000383954:p.Pro300Leu		Somatic	115	0	0		WXS	Illumina HiSeq	.	158	0.19	30	NM_014516	7	0.29	2	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.131190|4.131190	0.77549|0.77549	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000440571	T;T;T|.	0.68479|.	0.74;-0.33;0.74|.	3.57|3.57	3.57|3.57	0.40892|0.40892	.|.	0.304568|.	0.30830|.	U|.	0.008795|.	T|.	0.49081|.	0.1536|.	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	D;P;D|.	0.58268|.	0.965;0.816;0.982|.	B;B;P|.	0.50192|.	0.396;0.16;0.634|.	T|.	0.44065|.	-0.9352|.	10|.	0.06099|.	T|.	0.92|.	-3.9352|-3.9352	14.4909|14.4909	0.67649|0.67649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	300;300;224|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	L|X	300;119;300|222	ENSP00000221232:P300L;ENSP00000351159:P119L;ENSP00000383954:P300L|.	ENSP00000221232:P300L|.	P|Q	+|+	2|1	0|0	CNOT3|CNOT3	59343699|59343699	0.966000|0.966000	0.33281|0.33281	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.228000|4.228000	0.58619|0.58619	2.022000|2.022000	0.59522|0.59522	0.462000|0.462000	0.41574|0.41574	CCA|CAG			0.677	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142130.3		NM_014516	
ZNF814	730051	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	19	58384415	58384415	+	Silent	SNP	G	G	A	rs537301028	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr19:58384415G>A	ENST00000435989.2	-	3	2577	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	781					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGCTTTCAGCGAAAGATTTTC	0.403													.|||	2	0.000399361	0.0	0.0014	5008	,	,		20762	0.0		0.001	False		,,,				2504	0.0				p.F781F													.	.			0			c.C2343T												68.0	57.0	60.0					19																	58384415		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			TTCAGCGAAAGAT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2343C>T	19.37:g.58384415G>A			Somatic	97	0	0		WXS	Illumina HiSeq	.	87	0.06	5	NM_001144989	6	0.00	0	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																					0.403	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708	
IL1RL1	9173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	102955396	102955396	+	Missense_Mutation	SNP	A	A	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr2:102955396A>G	ENST00000233954.1	+	3	432	c.161A>G	c.(160-162)aAc>aGc	p.N54S	IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000409584.1_Missense_Mutation_p.N54S|IL1RL1_ENST00000393393.3_Missense_Mutation_p.N54S|IL1RL1_ENST00000311734.2_Missense_Mutation_p.N54S|IL1RL1_ENST00000473175.1_3'UTR	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	54	Ig-like C2-type 1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCACAAACAAACAAAAGTATT	0.413																																					p.N54S													.	.			0			c.A161G												186.0	187.0	186.0					2																	102955396		2203	4300	6503	SO:0001583	missense	9173	exon3			AAACAAACAAAAG	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.161A>G	2.37:g.102955396A>G	ENSP00000233954:p.Asn54Ser		Somatic	143	0	0		WXS	Illumina HiSeq	.	182	0.21	38	NM_016232	0		0	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815175	0.90790	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000311734;ENST00000409584	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	6.03	4.85	0.62838	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.628035	0.17214	N	0.182586	T	0.79540	0.4463	L	0.56769	1.78	0.30788	N	0.741288	D;D	0.61697	0.99;0.977	P;P	0.57152	0.779;0.814	T	0.72928	-0.4143	10	0.10636	T	0.68	.	9.3593	0.38186	0.8408:0.0:0.0:0.1592	.	54;54	Q01638-2;Q01638	.;ILRL1_HUMAN	S	54	ENSP00000233954:N54S;ENSP00000377052:N54S;ENSP00000310371:N54S;ENSP00000386618:N54S	ENSP00000233954:N54S	N	+	2	0	IL1RL1	102321828	0.404000	0.25328	0.259000	0.24435	0.727000	0.41649	2.947000	0.49058	1.061000	0.40601	0.533000	0.62120	AAC			0.413	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253296.1		NM_016232	
NSFL1C	55968	mdanderson.org	37	20	1424434	1424434	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr20:1424434G>T	ENST00000216879.4	-	9	1940	c.1073C>A	c.(1072-1074)gCc>gAc	p.A358D	NSFL1C_ENST00000476071.1_Missense_Mutation_p.A360D|NSFL1C_ENST00000381658.4_Missense_Mutation_p.A247D|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Missense_Mutation_p.A360D|NSFL1C_ENST00000353088.2_Missense_Mutation_p.A327D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	358	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GAGCAGGTTGGCTTCCTTCAG	0.587																																					p.A358D													.	.			0			c.C1073A												82.0	73.0	76.0					20																	1424434		2203	4300	6503	SO:0001583	missense	55968	exon9			AGGTTGGCTTCCT	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.1073C>A	20.37:g.1424434G>T	ENSP00000216879:p.Ala358Asp		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_016143	112	0.00	0	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993148	0.93167	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	4.99	4.99	0.66335	UBX (3);	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.995;0.997;0.998	D	0.86292	0.1674	10	0.87932	D	0	-15.3013	16.9871	0.86342	0.0:0.0:1.0:0.0	.	327;247;358	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	D	327;360;358;247;360	ENSP00000338643:A327D;ENSP00000418529:A360D;ENSP00000216879:A358D;ENSP00000371074:A247D;ENSP00000202584:A360D	ENSP00000216879:A358D	A	-	2	0	NSFL1C	1372434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.540000	0.98080	2.756000	0.94617	0.561000	0.74099	GCC			0.587	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077525.2		NM_016143	
BAGE2	85319	broad.mit.edu	37	21	11058613	11058614	+	RNA	INS	-	-	A	rs60445243|rs377480117	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr21:11058613_11058614insA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATTTTTTTTTAAAGCAAATAG	0.248																																					.													.	.			0			.																																											85319	.			TTTTTTTAAAGCA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058616_11058616dupA			Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	7	0.43	3	.	0		0	A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.248	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000157417.3		NM_182482	
DYRK1A	1859	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	38884387	38884387	+	Silent	SNP	T	T	C	rs372827991		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr21:38884387T>C	ENST00000398960.2	+	11	1920	c.1845T>C	c.(1843-1845)caT>caC	p.H615H	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Silent_p.H606H|DYRK1A_ENST00000455387.2_Silent_p.H387H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	615	Poly-His.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						accaccaccatcaccaccacc	0.493																																					p.H615H	Melanoma(114;464 1602 31203 43785 45765)												.	DYRK1A	85		0			c.T1845C							C	,,,	0,4406		0,0,2203	90.0	79.0	82.0		1845,,1818,	2.1	1.0	21		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous,utr-3	DYRK1A	NM_001396.3,NM_101395.2,NM_130436.2,NM_130438.2	,,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,,	615/764,,606/755,	38884387	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1859	exon11			CCACCATCACCAC	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1845T>C	21.37:g.38884387T>C			Somatic	97	0.0103092784	1		WXS	Illumina HiSeq	Phase_I	204	0.20	40	NM_001396	7	0.14	1	O60769|Q92582|Q92810|Q9UNM5	Silent	SNP	ENST00000398960.2	37	CCDS42925.1																																																																																					0.493	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194804.1		NM_001396	
LSS	4047	hgsc.bcm.edu;mdanderson.org	37	21	47642636	47642636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr21:47642636G>T	ENST00000397728.3	-	4	414	c.336C>A	c.(334-336)tgC>tgA	p.C112*	LSS_ENST00000457828.2_Nonsense_Mutation_p.C32*|AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000356396.4_Nonsense_Mutation_p.C112*|LSS_ENST00000522411.1_Nonsense_Mutation_p.C112*	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	112					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GTGCCACGTGGCAAGTGATCA	0.607																																					p.C112X	Pancreas(114;955 2313 34923 50507)												.	.			0			c.C336A												102.0	82.0	89.0					21																	47642636		2203	4300	6503	SO:0001587	stop_gained	4047	exon4			CACGTGGCAAGTG	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.336C>A	21.37:g.47642636G>T	ENSP00000380837:p.Cys112*		Somatic	27	0	0		WXS	Illumina HiSeq	.	66	0.09	6	NM_001145436	0		0	B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Nonsense_Mutation	SNP	ENST00000397728.3	37	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	38	6.821470	0.97865	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	.	.	.	5.17	3.34	0.38264	.	0.050281	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.0752	0.30712	0.3291:0.0:0.6709:0.0	.	.	.	.	X	112;32;112;112;113	.	ENSP00000348762:C112X	C	-	3	2	LSS	46467064	1.000000	0.71417	0.058000	0.19502	0.772000	0.43724	0.976000	0.29462	0.664000	0.31047	-0.192000	0.12808	TGC			0.607	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207274.2			
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	3'UTR	SNP	A	A	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617																																					.													.	.			0			.																																									SO:0001624	3_prime_UTR_variant	0	.			AGGCCGACACTCA																												ENST00000412938.1:c.*3361A>G	22.37:g.18846006A>G			Somatic	68	0.0147058824	1		WXS	Illumina HiSeq	Phase_I	118	0.03	4	.	0		0		RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding		OTTHUMT00000471615.1			
ANKRD54	129138	mdanderson.org	37	22	38240344	38240344	+	5'UTR	SNP	C	C	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr22:38240344C>A	ENST00000215941.4	-	0	94				MIR658_ENST00000385210.1_RNA|ANKRD54_ENST00000411961.2_5'Flank|ANKRD54_ENST00000406423.1_5'Flank|ANKRD54_ENST00000609454.1_Intron	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54						nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					AGCGAGCTGGCGGGCGGGCAG	0.701																																					.													.	.			0			.												12.0	15.0	14.0					22																	38240344		1554	3573	5127	SO:0001623	5_prime_UTR_variant	724028	.			AGCTGGCGGGCGG	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.-99G>T	22.37:g.38240344C>A			Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	13	0.31	4	.	0		0	Q6ZSB1|Q9UGV1	RNA	SNP	ENST00000215941.4	37	CCDS13959.1																																																																																					0.701	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319490.1		NM_138797	
RFTN1	23180	mdanderson.org	37	3	16358655	16358655	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr3:16358655G>T	ENST00000334133.4	-	10	1689	c.1417C>A	c.(1417-1419)Caa>Aaa	p.Q473K	OXNAD1_ENST00000544043.1_Intron|RP11-415F23.2_ENST00000607464.1_RNA|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000435829.2_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q437K	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	473					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TCTTCTGCTTGTTGTTTGTCT	0.453																																					p.Q473K													.	.			0			c.C1417A												136.0	129.0	131.0					3																	16358655		2203	4300	6503	SO:0001583	missense	23180	exon10			CTGCTTGTTGTTT	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1417C>A	3.37:g.16358655G>T	ENSP00000334153:p.Gln473Lys		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	48	0.08	4	NM_015150	4	0.00	0	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057853	0.19987	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.28255	1.62;1.62	5.25	4.32	0.51571	.	0.848509	0.10555	N	0.660933	T	0.24890	0.0604	L	0.36672	1.1	0.29289	N	0.869471	B;B	0.24721	0.11;0.11	B;B	0.17433	0.018;0.018	T	0.05178	-1.0901	10	0.19147	T	0.46	-0.247	13.0716	0.59064	0.0:0.0:0.8403:0.1597	.	437;473	G3XAJ6;Q14699	.;RFTN1_HUMAN	K	437;473	ENSP00000403926:Q437K;ENSP00000334153:Q473K	ENSP00000334153:Q473K	Q	-	1	0	RFTN1	16333659	0.002000	0.14202	0.006000	0.13384	0.012000	0.07955	1.028000	0.30128	2.606000	0.88127	0.563000	0.77884	CAA			0.453	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000346908.1		NM_015150	
COL6A5	256076	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	3	130128890	130128890	+	Missense_Mutation	SNP	A	A	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr3:130128890A>G	ENST00000432398.2	+	19	5074	c.4580A>G	c.(4579-4581)aAg>aGg	p.K1527R	COL6A5_ENST00000265379.6_Missense_Mutation_p.K1527R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1527	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAAGGACAAAAGGGCTCCAAA	0.318																																					p.K1527R													.	.			0			c.A4580G												211.0	205.0	207.0					3																	130128890		692	1591	2283	SO:0001583	missense	256076	exon19			GACAAAAGGGCTC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4580A>G	3.37:g.130128890A>G	ENSP00000390895:p.Lys1527Arg		Somatic	106	0	0		WXS	Illumina HiSeq	.	95	0.04	4	NM_153264	0		0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	A	14.46	2.543405	0.45280	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.95588	-3.75;-2.39	5.85	3.47	0.39725	.	.	.	.	.	D	0.93324	0.7872	L	0.58810	1.83	0.22389	N	0.99914	P	0.40909	0.732	B	0.43754	0.43	D	0.86272	0.1662	9	0.44086	T	0.13	.	4.3598	0.11196	0.6983:0.0:0.157:0.1447	.	1527	A8TX70-2	.	R	1527	ENSP00000390895:K1527R;ENSP00000265379:K1527R	ENSP00000265379:K1527R	K	+	2	0	COL6A5	131611580	0.984000	0.35163	1.000000	0.80357	0.713000	0.41058	1.161000	0.31773	0.473000	0.27368	0.528000	0.53228	AAG			0.318	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_153264	
TUBB7P	56604	bcgsc.ca	37	4	190904383	190904383	+	IGR	SNP	G	G	A	rs76146840	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr4:190904383G>A								FRG1 (20024 upstream) : RNA5SP174 (31909 downstream)																							TATCTATGCAGAAGGTCTCAT	0.527																																					.													.	.			0			.												17.0	26.0	23.0					4																	190904383		1888	4036	5924	SO:0001628	intergenic_variant	56604	.			TATGCAGAAGGTC																													4.37:g.190904383G>A			Somatic	86	0.0348837209	3		WXS	Illumina HiSeq	Phase_1	38	0.53	20	.	1	0.00	0		RNA	SNP		37																																																																																					0	0.527										
TRPC7	57113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	135692524	135692524	+	Silent	SNP	C	C	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr5:135692524C>T	ENST00000513104.1	-	2	834	c.552G>A	c.(550-552)ctG>ctA	p.L184L	TRPC7_ENST00000426057.2_Silent_p.L184L|TRPC7_ENST00000355180.3_Silent_p.L184L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	184					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCCCTTGAGCAGCAGGATGT	0.617																																					p.L184L													.	.			0			c.G552A												104.0	112.0	110.0					5																	135692524		2203	4295	6498	SO:0001819	synonymous_variant	57113	exon2			CTTGAGCAGCAGG	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.552G>A	5.37:g.135692524C>T			Somatic	75	0	0		WXS	Illumina HiSeq	.	66	0.42	28	NM_001167576	0		0	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	8.879	0.951209	0.18431	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.26	0.128	0.14733	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26538	-1.0100	4	.	.	.	-12.9905	2.1611	0.03825	0.2882:0.3775:0.1948:0.1396	.	.	.	.	T	184	.	.	A	-	1	0	TRPC7	135720423	0.991000	0.36638	1.000000	0.80357	0.980000	0.70556	0.394000	0.20834	0.341000	0.23771	0.650000	0.86243	GCT			0.617	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366975.1		NM_020389	
PCDHA2	56146	mdanderson.org	37	5	140176344	140176344	+	Missense_Mutation	SNP	G	G	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr5:140176344G>A	ENST00000526136.1	+	1	1795	c.1795G>A	c.(1795-1797)Gct>Act	p.A599T	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A599T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A599T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTGGACGCTGACTCAGG	0.662																																					p.A599T													PCDHA2_ENST00000526136,NS,carcinoma,0,4	PCDHA2_ENST00000526136	0	4	0			c.G1795A												160.0	144.0	149.0					5																	140176344		2203	4300	6503	SO:0001583	missense	56146	exon1			GTGGACGCTGACT	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1795G>A	5.37:g.140176344G>A	ENSP00000431748:p.Ala599Thr		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_031495	0		0	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	13.06	2.125332	0.37533	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.55234	0.53;0.53;0.53	3.91	1.84	0.25277	Cadherin (4);Cadherin-like (1);	0.971401	0.08362	U	0.957597	T	0.75496	0.3857	M	0.93106	3.38	0.22903	N	0.998587	D;D;D	0.71674	0.998;0.995;0.984	P;P;D	0.67231	0.897;0.819;0.95	T	0.57242	-0.7845	10	0.66056	D	0.02	.	7.7136	0.28692	0.0:0.1585:0.5161:0.3254	.	599;599;599	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	599	ENSP00000430584:A599T;ENSP00000367372:A599T;ENSP00000431748:A599T	ENSP00000367372:A599T	A	+	1	0	PCDHA2	140156528	0.018000	0.18449	0.747000	0.31113	0.131000	0.20780	0.969000	0.29370	0.733000	0.32492	0.549000	0.68633	GCT			0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372877.3		NM_018905	
PCDHA6	56142	bcgsc.ca	37	5	140209479	140209479	+	Silent	SNP	A	A	G	rs201316180	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr5:140209479A>G	ENST00000529310.1	+	1	1917	c.1803A>G	c.(1801-1803)tcA>tcG	p.S601S	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCCGACTCAGGCTACAACG	0.662													.|||	7	0.00139776	0.0	0.0	5008	,	,		16847	0.0069		0.0	False		,,,				2504	0.0				p.S601S													.	PCDHA6	442		0			c.A1803G												85.0	86.0	86.0					5																	140209479		2203	4300	6503	SO:0001819	synonymous_variant	56142	exon1			CGACTCAGGCTAC	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1803A>G	5.37:g.140209479A>G			Somatic	54	0	0		WXS	Illumina HiSeq	Phase_1	52	0.08	4	NM_018909	0		0	O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																					0.662	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372829.3		NM_018909	
FAM71B	153745	mdanderson.org	37	5	156590354	156590354	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr5:156590354G>T	ENST00000302938.4	-	2	1017	c.922C>A	c.(922-924)Caa>Aaa	p.Q308K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	308	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTCACTTGACCTGGGCCT	0.517																																					p.Q308K													.	.			0			c.C922A												118.0	114.0	115.0					5																	156590354		2203	4300	6503	SO:0001583	missense	153745	exon2			TCACTTGACCTGG		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.922C>A	5.37:g.156590354G>T	ENSP00000305596:p.Gln308Lys		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_130899	0		0	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363491	0.41902	.	.	ENSG00000170613	ENST00000302938	T	0.04049	3.72	3.85	2.96	0.34315	.	0.365738	0.20136	N	0.098493	T	0.10165	0.0249	L	0.60455	1.87	0.09310	N	1	D	0.62365	0.991	P	0.52481	0.7	T	0.07539	-1.0767	10	0.49607	T	0.09	-9.8624	9.482	0.38906	0.0:0.216:0.784:0.0	.	308	Q8TC56	FA71B_HUMAN	K	308	ENSP00000305596:Q308K	ENSP00000305596:Q308K	Q	-	1	0	FAM71B	156522932	0.133000	0.22466	0.016000	0.15963	0.002000	0.02628	3.753000	0.55180	1.164000	0.42652	-0.175000	0.13238	CAA			0.517	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252570.2		NM_130899	
BOD1	91272	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	173043252	173043252	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr5:173043252C>T	ENST00000311086.4	-	1	411	c.188G>A	c.(187-189)gGc>gAc	p.G63D	BOD1_ENST00000471339.1_5'UTR|BOD1_ENST00000480951.1_Missense_Mutation_p.G63D|BOD1_ENST00000285908.5_Missense_Mutation_p.G63D	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	63					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GTCAAAAAGGCCCCGGCTCTT	0.721																																					p.G63D													.	.			0			c.G188A												4.0	6.0	5.0					5																	173043252		2075	4163	6238	SO:0001583	missense	91272	exon1			AAAAGGCCCCGGC	AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"""biorientation defective 1"""		"""family with sequence similarity 44, member B"""	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.188G>A	5.37:g.173043252C>T	ENSP00000309644:p.Gly63Asp		Somatic	28	0	0		WXS	Illumina HiSeq	.	25	0.40	10	NM_001159651	3	1.00	3	B4DXH8|Q9BTW1	Missense_Mutation	SNP	ENST00000311086.4	37	CCDS4389.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136648	0.94517	.	.	ENSG00000145919	ENST00000311086;ENST00000285908;ENST00000477985;ENST00000480951	T;T	0.25912	1.77;1.77	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60964	-0.7158	10	0.87932	D	0	-11.7075	16.2406	0.82405	0.0:1.0:0.0:0.0	.	63;63	Q96IK1-2;Q96IK1	.;BOD1_HUMAN	D	63;63;37;63	ENSP00000309644:G63D;ENSP00000285908:G63D	ENSP00000285908:G63D	G	-	2	0	BOD1	172975858	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.010000	0.76353	2.143000	0.66587	0.563000	0.77884	GGC			0.721	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252963.1		NM_138369	
RNF182	221687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	13977913	13977913	+	Missense_Mutation	SNP	T	T	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr6:13977913T>G	ENST00000488300.1	+	3	1086	c.563T>G	c.(562-564)tTg>tGg	p.L188W	RNF182_ENST00000537388.1_Missense_Mutation_p.L188W|RNF182_ENST00000537663.1_Missense_Mutation_p.L188W|RNF182_ENST00000544682.1_Missense_Mutation_p.L188W	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	188					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TTAGTGTGGTTGCTAGGTTTG	0.517																																					p.L188W													.	.			0			c.T563G												213.0	216.0	215.0					6																	13977913		2203	4300	6503	SO:0001583	missense	221687	exon4			TGTGGTTGCTAGG	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.563T>G	6.37:g.13977913T>G	ENSP00000420465:p.Leu188Trp		Somatic	115	0	0		WXS	Illumina HiSeq	.	86	0.21	18	NM_001165032	0		0	B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490584	0.84962	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000537388	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.27	5.27	0.74061	.	0.510310	0.20234	N	0.096434	T	0.27798	0.0684	L	0.46157	1.445	0.54753	D	0.999984	D	0.76494	0.999	D	0.68192	0.956	T	0.01436	-1.1355	9	.	.	.	-15.6193	15.2097	0.73209	0.0:0.0:0.0:1.0	.	188	Q8N6D2	RN182_HUMAN	W	188	ENSP00000443228:L188W;ENSP00000420465:L188W;ENSP00000442021:L188W;ENSP00000441271:L188W	.	L	+	2	0	RNF182	14085892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	1.998000	0.58463	0.460000	0.39030	TTG			0.517	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039911.2		NM_152737	
TMEM184A	202915	mdanderson.org	37	7	1586673	1586673	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr7:1586673C>T	ENST00000297477.5	-	9	1473	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	386					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGGGTGGGTGCCGGGCCTGGG	0.706																																					p.G386D													.	.			0			c.G1157A												19.0	25.0	23.0					7																	1586673		2187	4291	6478	SO:0001583	missense	202915	exon9			TGGGTGCCGGGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1157G>A	7.37:g.1586673C>T	ENSP00000297477:p.Gly386Asp		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_001097620	0		0	Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	8.227	0.803868	0.16467	.	.	ENSG00000164855	ENST00000297477	T	0.32515	1.45	5.18	2.35	0.29111	.	5.011570	0.00871	U	0.002020	T	0.31136	0.0787	L	0.57536	1.79	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.18999	-1.0319	10	0.18276	T	0.48	-12.6884	6.5175	0.22256	0.0:0.6559:0.1338:0.2103	.	386	Q6ZMB5	T184A_HUMAN	D	386	ENSP00000297477:G386D	ENSP00000297477:G386D	G	-	2	0	TMEM184A	1553199	0.000000	0.05858	0.057000	0.19452	0.297000	0.27493	0.067000	0.14510	1.168000	0.42723	0.549000	0.68633	GGC			0.706	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239229.4		NM_152689	
ELFN1	392617	mdanderson.org	37	7	1786093	1786093	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr7:1786093G>T	ENST00000424383.2	+	3	2348	c.1861G>T	c.(1861-1863)Ggc>Tgc	p.G621C	ELFN1_ENST00000561626.1_Missense_Mutation_p.G621C|ELFN1_ENST00000541472.1_Missense_Mutation_p.G599C			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	621					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						GGACGCCTTCGGCCACAGCCT	0.766																																					p.G621C													.	.			0			c.G1861T												2.0	2.0	2.0					7																	1786093		520	1205	1725	SO:0001583	missense	392617	exon2			GCCTTCGGCCACA		CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1861G>T	7.37:g.1786093G>T	ENSP00000456548:p.Gly621Cys		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	21	0.10	2	NM_001128636	0		0	H3BS57	Missense_Mutation	SNP	ENST00000424383.2	37	CCDS59046.1																																																																																					0.766	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322893.2		NM_001128636	
FOXP2	93986	mdanderson.org	37	7	114304486	114304486	+	Silent	SNP	G	G	T	rs547912850	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr7:114304486G>T	ENST00000393494.2	+	16	2277	c.1998G>T	c.(1996-1998)ccG>ccT	p.P666P	FOXP2_ENST00000393489.3_Silent_p.P574P|FOXP2_ENST00000350908.4_Silent_p.P666P|FOXP2_ENST00000403559.4_Silent_p.P683P|FOXP2_ENST00000408937.3_Silent_p.P691P|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393491.3_Silent_p.P481P|FOXP2_ENST00000393498.2_Silent_p.P645P			O15409	FOXP2_HUMAN	forkhead box P2	666					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CACCTCAGCCGCACATGTAAG	0.428																																					p.P691P													.	.			0			c.G2073T												57.0	56.0	57.0					7																	114304486		2203	4300	6503	SO:0001819	synonymous_variant	93986	exon17			TCAGCCGCACATG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1998G>T	7.37:g.114304486G>T			Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	52	0.06	3	NM_148898	0		0	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	CCDS5760.1																																																																																					0.428	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317366.1		NM_014491	
UBXN8	7993	broad.mit.edu	37	8	30608866	30608867	+	RNA	INS	-	-	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr8:30608866_30608867insA	ENST00000519246.1	+	0	287							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						cctcatctcttaaaaaaaaaGT	0.406																																					.	Colon(169;855 1943 17895 39459 47884)												.	UBXN8	13		0			.																																											7993	.			ATCTCTTAAAAAA	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30608875_30608875dupA			Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	100	0.07	7	.	0		0	Q7Z6F2	RNA	INS	ENST00000519246.1	37																																																																																						0.406	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000375957.1		NM_005671	
ASNSP1	389652	bcgsc.ca	37	8	47512175	47512175	+	IGR	SNP	A	A	G			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr8:47512175A>G								None (None upstream) : RNU6-656P (230496 downstream)																							TATCCAGAAAAAAATTGCAAA	0.373																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	389652	.			CAGAAAAAAATTG																													8.37:g.47512175A>G			Somatic	121	0	0		WXS	Illumina HiSeq	Phase_1	196	0.15	30	.	3	0.67	2		RNA	SNP		37																																																																																					0	0.373										
LRRCC1	85444	broad.mit.edu	37	8	86019547	86019547	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr8:86019547C>T	ENST00000360375.3	+	1	166	c.17C>T	c.(16-18)gCg>gTg	p.A6V	LRRCC1_ENST00000414626.2_5'Flank	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	6					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						gcggcggcggcggtggtggcg	0.657																																					p.A6V													LRRCC1,colon,carcinoma,0,2	LRRCC1	212	2	0			c.C17T												14.0	25.0	22.0					8																	86019547		1814	4022	5836	SO:0001583	missense	85444	exon1			CGGCGGCGGTGGT	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.17C>T	8.37:g.86019547C>T	ENSP00000353538:p.Ala6Val		Somatic	64	0.015625	1		WXS	Illumina HiSeq	Phase_I	146	0.03	5	NM_033402	0		0	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569227	0.28003	.	.	ENSG00000133739	ENST00000360375	T	0.32272	1.46	1.53	-1.48	0.08745	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	0.999995	D	0.53312	0.959	P	0.45971	0.499	T	0.18116	-1.0347	9	0.56958	D	0.05	.	6.716	0.23304	0.3338:0.6662:0.0:0.0	.	6	Q9C099	LRCC1_HUMAN	V	6	ENSP00000353538:A6V	ENSP00000353538:A6V	A	+	2	0	LRRCC1	86206799	0.117000	0.22190	0.000000	0.03702	0.473000	0.32948	0.725000	0.25970	-0.322000	0.08615	-0.410000	0.06199	GCG			0.657	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380267.1		NM_033402	
NPR2	4882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	35792698	35792698	+	Missense_Mutation	SNP	G	G	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr9:35792698G>A	ENST00000342694.2	+	1	548	c.293G>A	c.(292-294)gGt>gAt	p.G98D		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	98					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGCTGTTAGGTCCCGGTTGC	0.637																																					p.G98D													.	.			0			c.G293A												120.0	108.0	112.0					9																	35792698		2203	4300	6503	SO:0001583	missense	4882	exon1			TGTTAGGTCCCGG	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.293G>A	9.37:g.35792698G>A	ENSP00000341083:p.Gly98Asp		Somatic	70	0	0		WXS	Illumina HiSeq	.	53	0.32	17	NM_003995	0		0	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835449	0.71373	.	.	ENSG00000159899	ENST00000342694	D	0.95821	-3.82	3.93	3.93	0.45458	Extracellular ligand-binding receptor (1);	0.000000	0.45126	D	0.000400	D	0.97673	0.9237	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98239	1.0487	10	0.87932	D	0	.	13.6299	0.62189	0.0:0.0:1.0:0.0	.	98;98	P20594-2;P20594	.;ANPRB_HUMAN	D	98	ENSP00000341083:G98D	ENSP00000341083:G98D	G	+	2	0	NPR2	35782698	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.336000	0.96533	2.183000	0.69458	0.563000	0.77884	GGT			0.637	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052345.1			
MYO5BP3	441442	bcgsc.ca	37	9	68357375	68357375	+	IGR	SNP	G	G	A	rs113072271		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr9:68357375G>A								RP11-149F8.5 (16731 upstream) : RP11-764K9.1 (40502 downstream)																							CATGTGCTTGGCATCTAATAG	0.428																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	441442	.			TGCTTGGCATCTA																													9.37:g.68357375G>A			Somatic	22	0	0		WXS	Illumina HiSeq	Phase_1	38	0.18	7	.	1	0.00	0		RNA	SNP		37																																																																																					0	0.428										
NOL8	55035	mdanderson.org	37	9	95077301	95077301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr9:95077301G>A	ENST00000535387.1	-	6	1605	c.1606C>T	c.(1606-1608)Cga>Tga	p.R536*	NOL8_ENST00000542053.1_Nonsense_Mutation_p.R468*|NOL8_ENST00000545558.1_Nonsense_Mutation_p.R536*|NOL8_ENST00000442668.2_Nonsense_Mutation_p.R536*|NOL8_ENST00000358855.4_Nonsense_Mutation_p.R468*					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACACTGTCGGCCTCTGCGG	0.493																																					p.R536X													.	.			0			c.C1606T												73.0	70.0	71.0					9																	95077301		1842	4088	5930	SO:0001587	stop_gained	55035	exon7			ACTGTCGGCCTCT	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1606C>T	9.37:g.95077301G>A	ENSP00000441300:p.Arg536*		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_017948	7	0.00	0		Nonsense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	G	36	5.600356	0.96614	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	.	.	.	5.69	-0.908	0.10517	.	1.693040	0.03368	N	0.198519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.2141	11.0487	0.47874	0.0:0.1472:0.3639:0.4889	.	.	.	.	X	536;538;468;536;536;468;536	.	ENSP00000351723:R468X	R	-	1	2	NOL8	94117122	0.009000	0.17119	0.000000	0.03702	0.023000	0.10783	0.808000	0.27154	-0.033000	0.13736	0.655000	0.94253	CGA			0.493	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000053082.2		NM_017948	
TUBBP5	643224	hgsc.bcm.edu	37	9	141071002	141071002	+	RNA	SNP	A	A	G	rs28433994		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr9:141071002A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.L207L(1)									ACGAAGCGCTATATGACATAT	0.537																																					.													ENSG00000254381,bladder,carcinoma,0,4	ENSG00000254381	0	4	1	Substitution - coding silent(1)	endometrium(1)	.																																											643224	.			AGCGCTATATGAC	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071002A>G			Somatic	29	0	0		WXS	Illumina HiSeq	.	46	0.09	4	.	9	0.00	0		RNA	SNP	ENST00000503395.1	37																																																																																						0.537	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000373087.1		NR_027156	
FAM101B	359845	mdanderson.org	37	17	293282	293282	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:293282G>T	ENST00000329099.4	-	2	107	c.108C>A	c.(106-108)taC>taA	p.Y36*		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	106					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)			breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		CCAAGGAGGTGTACCTGGGCG	0.647																																					.													.	.			0			.												42.0	47.0	45.0					17																	293282		2088	4220	6308	SO:0001587	stop_gained	359845	.			GGAGGTGTACCTG			17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.108C>A	17.37:g.293282G>T	ENSP00000331915:p.Tyr36*		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	26	0.12	3	.	0		0		Nonsense_Mutation	SNP	ENST00000329099.4	37		.	.	.	.	.	.	.	.	.	.	G	13.76	2.333574	0.41297	.	.	ENSG00000183688	ENST00000329099	.	.	.	5.68	-0.0366	0.13888	.	0.054804	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.8413	10.1304	0.42676	0.3807:0.0:0.6193:0.0	.	.	.	.	X	36	.	ENSP00000331915:Y36X	Y	-	3	2	FAM101B	293510	1.000000	0.71417	0.989000	0.46669	0.086000	0.17979	2.732000	0.47352	0.089000	0.17243	-0.355000	0.07637	TAC			0.647	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000255652.1		NM_182705	
