#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_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	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
C1orf86	199990	broad.mit.edu	37	1	2116938	2116938	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:2116938C>T	ENST00000400919.3	-	8	1291	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000536678.1_RNA|RP11-181G12.2_ENST00000444529.1_RNA	NM_001282671.1	NP_001269600.1	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	73					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGGTGGGGGCGGGAGTTGAA	0.577																																					p.A158T													.	C1orf86	20		0			c.G472A												53.0	48.0	49.0					1																	2116938		692	1591	2283	SO:0001583	missense	199990	exon8			TGGGGGCGGGAGT	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000400919.3:c.223G>A	1.37:g.2116938C>T	ENSP00000383710:p.Ala75Thr		235	0	0		172	0.03	5	NM_001146310	9	0.00	0	A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000400919.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.276413|1.276413	0.23307|0.23307	.|.	.|.	ENSG00000162585|ENSG00000162585	ENST00000400919|ENST00000400918	.|T	.|0.49432	.|0.78	3.92|3.92	3.0|3.0	0.34707|0.34707	.|.	.|.	.|.	.|.	.|.	T|T	0.30759|0.30759	0.0775|0.0775	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999988|0.999988	P|.	0.37997|.	0.614|.	B|.	0.30646|.	0.118|.	T|T	0.25745|0.25745	-1.0123|-1.0123	8|7	0.87932|0.87932	D|D	0|0	.|.	8.9876|8.9876	0.36003|0.36003	0.0:0.8945:0.0:0.1055|0.0:0.8945:0.0:0.1055	.|.	158|.	Q6ZRT9|.	.|.	T|H	75|162	.|ENSP00000383709:R162H	ENSP00000383710:A75T|ENSP00000383709:R162H	A|R	-|-	1|2	0|0	C1orf86|C1orf86	2106798|2106798	0.236000|0.236000	0.23804|0.23804	0.001000|0.001000	0.08648|0.08648	0.036000|0.036000	0.12997|0.12997	0.407000|0.407000	0.21049|0.21049	0.744000|0.744000	0.32741|0.32741	0.561000|0.561000	0.74099|0.74099	GCC|CGC			0.577	C1orf86-202	KNOWN	basic	protein_coding	protein_coding				NM_182533	
CLCNKA	1187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	16358965	16358965	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:16358965G>T	ENST00000331433.4	+	18	1892	c.1873G>T	c.(1873-1875)Ggc>Tgc	p.G625C	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G624C|CLCNKA_ENST00000375692.1_Missense_Mutation_p.G624C|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G582C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	625					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTTGGCCAGGGGCTGCCCCAC	0.622											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G625C													.	.			0			c.G1873T												110.0	110.0	110.0					1																	16358965		2203	4300	6503	SO:0001583	missense	1187	exon18			GCCAGGGGCTGCC		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1873G>T	1.37:g.16358965G>T	ENSP00000332771:p.Gly625Cys		202	0	0	709	122	0.16	20	NM_004070	1	0.00	0	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574296	0.28092	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	3.02	3.02	0.34903	.	0.261457	0.37715	N	0.001965	D	0.90428	0.7003	M	0.65320	2	0.36598	D	0.874506	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.66084	0.941;0.941;0.941	D	0.92097	0.5685	10	0.54805	T	0.06	.	11.1707	0.48569	0.0:0.0:1.0:0.0	.	582;624;625	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	C	624;624;582;625	ENSP00000364844:G624C;ENSP00000410353:G624C;ENSP00000414445:G582C;ENSP00000332771:G625C	ENSP00000332771:G625C	G	+	1	0	CLCNKA	16231552	0.804000	0.28969	0.331000	0.25455	0.013000	0.08279	1.299000	0.33424	1.674000	0.50907	0.313000	0.20887	GGC			0.622	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000026326.1			
AL589986.2	0	broad.mit.edu	37	1	152096616	152096617	+	RNA	DEL	TA	TA	-	rs144631050		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:152096616_152096617delTA	ENST00000429230.1	+	0	123																											tctatatgtgtatatatatata	0.292																																					.													.	.			0			.																																											0	.			TATGTGTATATAT																													1.37:g.152096626_152096627delTA			4	0	0		8	0.38	3	.	0		0		RNA	DEL	ENST00000429230.1	37																																																																																						0.292	AL589986.2-001	KNOWN	basic	antisense	antisense		OTTHUMT00000036670.1			
NCSTN	23385	ucsc.edu	37	1	160319987	160319987	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:160319987A>G	ENST00000294785.5	+	5	654	c.529A>G	c.(529-531)Agt>Ggt	p.S177G	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.S157G|NCSTN_ENST00000535857.1_Missense_Mutation_p.S177G|NCSTN_ENST00000368063.1_Missense_Mutation_p.S157G|NCSTN_ENST00000368065.4_5'UTR	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	177					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAAGACTTTAGTTTCCCCAT	0.423																																					p.S177G													.	NCSTN	64		0			c.A529G												184.0	190.0	188.0					1																	160319987		2203	4300	6503	SO:0001583	missense	23385	exon5			GACTTTAGTTTCC	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.529A>G	1.37:g.160319987A>G	ENSP00000294785:p.Ser177Gly		105	0	0		149	0.01	1	NM_015331	209	0.26	54	Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.377556	0.24944	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	D;D;T;T;T;D	0.82433	-1.61;-1.61;-0.08;-0.07;-0.1;-1.61	4.86	3.71	0.42584	.	0.169550	0.50627	D	0.000120	T	0.52092	0.1713	L	0.34521	1.04	0.80722	D	1	B;B;B	0.33171	0.4;0.004;0.001	B;B;B	0.28011	0.085;0.004;0.001	T	0.54463	-0.8290	10	0.16896	T	0.51	-9.7228	4.778	0.13189	0.8303:0.0:0.1697:0.0	.	177;157;177	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	G	177;157;177;177;210;157	ENSP00000294785:S177G;ENSP00000357042:S157G;ENSP00000390409:S177G;ENSP00000442605:S177G;ENSP00000389370:S210G;ENSP00000376047:S157G	ENSP00000294785:S177G	S	+	1	0	NCSTN	158586611	0.161000	0.22892	0.995000	0.50966	0.995000	0.86356	0.587000	0.23909	2.043000	0.60533	0.533000	0.62120	AGT			0.423	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080622.1		NM_015331	
NFASC	23114	hgsc.bcm.edu;broad.mit.edu	37	1	204939861	204939861	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:204939861G>T	ENST00000401399.1	+	10	1320	c.1121G>T	c.(1120-1122)gGg>gTg	p.G374V	NFASC_ENST00000539706.1_Missense_Mutation_p.G385V|NFASC_ENST00000339876.6_Missense_Mutation_p.G374V|NFASC_ENST00000360049.4_Missense_Mutation_p.G385V|NFASC_ENST00000338515.6_Missense_Mutation_p.G374V|NFASC_ENST00000404907.1_Missense_Mutation_p.G385V|NFASC_ENST00000367170.4_Missense_Mutation_p.G374V|NFASC_ENST00000404076.1_Missense_Mutation_p.G368V|NFASC_ENST00000338586.6_Missense_Mutation_p.G374V|NFASC_ENST00000513543.1_Missense_Mutation_p.G385V|NFASC_ENST00000367169.4_Missense_Mutation_p.G374V|NFASC_ENST00000367172.4_Missense_Mutation_p.G374V|NFASC_ENST00000403080.1_Missense_Mutation_p.G374V|NFASC_ENST00000367171.4_Missense_Mutation_p.G374V			O94856	NFASC_HUMAN	neurofascin	374	Ig-like C2-type 4.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATGGTGAATGGGGAACCTTTG	0.532																																					p.G385V													.	.			0			c.G1154T												130.0	106.0	114.0					1																	204939861		2203	4300	6503	SO:0001583	missense	23114	exon11			TGAATGGGGAACC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1121G>T	1.37:g.204939861G>T	ENSP00000385637:p.Gly374Val		116	0	0		96	0.04	4	NM_015090	0		0	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.954047|4.954047	0.92660|0.92660	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.56941|0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43|0.43	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|0.000000	0.53938|0.53938	D|D	0.000044|0.000044	D|D	0.83422|0.83422	0.5251|0.5251	H|H	0.97564|0.97564	4.03|4.03	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;1.0;1.0;0.998;1.0;1.0|.	D|D	0.89056|0.89056	0.3459|0.3459	10|8	0.87932|0.87932	D|D	0|0	.|.	19.2963|19.2963	0.94124|0.94124	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	385;385;470;374;374;385;374|.	O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2|.	.;.;.;.;.;.;.|.	V|W	374;374;374;374;374;374;385;385;385;374;374;368;374;385;385;361|344	ENSP00000356140:G374V;ENSP00000356139:G374V;ENSP00000356138:G374V;ENSP00000342128:G374V;ENSP00000344786:G374V;ENSP00000343509:G374V;ENSP00000438614:G385V;ENSP00000353154:G385V;ENSP00000356137:G374V;ENSP00000384875:G374V;ENSP00000385676:G368V;ENSP00000385637:G374V;ENSP00000384061:G385V;ENSP00000425908:G385V;ENSP00000415031:G361V|ENSP00000356141:G344W	ENSP00000295776:G385V|ENSP00000356141:G344W	G|G	+|+	2|1	0|0	NFASC|NFASC	203206484|203206484	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.757000|9.757000	0.98924|0.98924	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GGG|GGG			0.532	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000131237.1		NM_001005388	
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	1	228468319	228468319	+	Silent	SNP	C	C	T	rs186845111	byFrequency	TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:228468319C>T	ENST00000422127.1	+	30	8063	c.8019C>T	c.(8017-8019)ccC>ccT	p.P2673P	OBSCN_ENST00000359599.6_Silent_p.P1520P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.P3102P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.P2673P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2673	Ig-like 26.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTCTGACCCCGAGGCCCATG	0.657																																					p.P3102P													.	.			0			c.C9306T												59.0	68.0	65.0					1																	228468319		2164	4278	6442	SO:0001819	synonymous_variant	84033	exon35			TGACCCCGAGGCC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8019C>T	1.37:g.228468319C>T			61	0	0		45	0.09	4	NM_001271223	2	0.00	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																					0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843	
PITRM1	10531	ucsc.edu	37	10	3193470	3193470	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr10:3193470T>C	ENST00000224949.4	-	15	1741	c.1707A>G	c.(1705-1707)atA>atG	p.I569M	PITRM1_ENST00000464395.1_5'Flank|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.I537M|PITRM1_ENST00000380994.1_Missense_Mutation_p.I127M|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.I569M			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	569					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTGTGACAGGTATGGTGGGTT	0.478																																					p.I569M													.	PITRM1	109		0			c.A1707G												51.0	52.0	52.0					10																	3193470		1925	4128	6053	SO:0001583	missense	10531	exon15			GACAGGTATGGTG	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1707A>G	10.37:g.3193470T>C	ENSP00000224949:p.Ile569Met		100	0	0		71	0.01	1	NM_014889	54	0.15	8	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	5.746|5.746	0.322142|0.322142	0.10900|0.10900	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104|ENST00000430362	T;T;T;T|.	0.31769|.	1.48;1.48;1.48;1.48|.	5.67|5.67	-5.54|-5.54	0.02544|0.02544	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.308868|.	0.42548|.	N|.	0.000698|.	T|T	0.19005|0.19005	0.0456|0.0456	N|N	0.25890|0.25890	0.77|0.77	0.21782|0.21782	N|N	0.999548|0.999548	B;B;B;B;B;B|.	0.18968|.	0.012;0.003;0.01;0.013;0.013;0.032|.	B;B;B;B;B;B|.	0.32149|.	0.01;0.016;0.087;0.141;0.141;0.141|.	T|T	0.25257|0.25257	-1.0137|-1.0137	10|5	0.39692|.	T|.	0.17|.	.|.	3.0665|3.0665	0.06217|0.06217	0.1483:0.2976:0.3823:0.1718|0.1483:0.2976:0.3823:0.1718	.|.	562;537;569;569;569;562|.	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07|.	.;.;.;.;PREP_HUMAN;.|.	M|A	569;562;569;127;537|206	ENSP00000224949:I569M;ENSP00000370377:I569M;ENSP00000370382:I127M;ENSP00000401201:I537M|.	ENSP00000224949:I569M|.	I|T	-|-	3|1	3|0	PITRM1|PITRM1	3183470|3183470	0.625000|0.625000	0.27111|0.27111	0.002000|0.002000	0.10522|0.10522	0.024000|0.024000	0.10985|0.10985	-0.455000|-0.455000	0.06762|0.06762	-1.346000|-1.346000	0.02211|0.02211	-1.202000|-1.202000	0.01658|0.01658	ATA|ACC			0.478	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000046469.2			
CACNB2	783	mdanderson.org	37	10	18629869	18629869	+	Intron	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr10:18629869G>T	ENST00000324631.7	+	3	273				CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377329.4_Missense_Mutation_p.R5L|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000396576.2_Intron	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGACAGACGCCTTATAGCT	0.478																																					p.R5L													.	.			0			c.G14T												150.0	150.0	150.0					10																	18629869		1918	4132	6050	SO:0001627	intron_variant	783	exon1			ACAGACGCCTTAT	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.214-60984G>T	10.37:g.18629869G>T			59	0	0		49	0.06	3	NM_201590	0		0	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009637	0.54361	.	.	ENSG00000165995	ENST00000377329	D	0.82344	-1.6	5.16	2.17	0.27698	.	.	.	.	.	T	0.52289	0.1725	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.33171	0.4;0.4;0.057;0.095	B;B;B;B	0.20577	0.03;0.022;0.012;0.027	T	0.46133	-0.9213	9	0.37606	T	0.19	.	6.9937	0.24769	0.3105:0.0:0.6895:0.0	.	5;5;5;5	Q5QJ99;Q6TME0;Q6TME1;Q08289-3	.;.;.;.	L	5	ENSP00000366546:R5L	ENSP00000366546:R5L	R	+	2	0	CACNB2	18669875	1.000000	0.71417	0.479000	0.27329	0.503000	0.33858	2.038000	0.41184	0.283000	0.22279	0.655000	0.94253	CGC			0.478	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047072.2		NM_000724	
EGR2	1959	mdanderson.org	37	10	64573455	64573455	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr10:64573455G>T	ENST00000242480.3	-	2	1268	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	EGR2_ENST00000411732.1_Missense_Mutation_p.L265M|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.L315M	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	315					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGCAGTGGCAGGTGGTGTGGG	0.697																																					p.L315M													.	.			0			c.C943A												21.0	25.0	24.0					10																	64573455		2203	4299	6502	SO:0001583	missense	1959	exon3			GTGGCAGGTGGTG	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.943C>A	10.37:g.64573455G>T	ENSP00000242480:p.Leu315Met		27	0	0		16	0.13	2	NM_001136177	3	0.00	0	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710315	0.48517	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.15017	2.46;2.46;2.54	4.96	3.08	0.35506	.	0.095006	0.44097	D	0.000488	T	0.29882	0.0747	L	0.60455	1.87	0.40529	D	0.980914	D;D	0.69078	0.997;0.997	D;P	0.65010	0.931;0.879	T	0.03993	-1.0986	10	0.87932	D	0	-9.7501	5.6679	0.17704	0.1644:0.0:0.6778:0.1578	.	265;315	P11161-2;P11161	.;EGR2_HUMAN	M	315;315;265	ENSP00000242480:L315M;ENSP00000402040:L315M;ENSP00000387634:L265M	ENSP00000242480:L315M	L	-	1	2	EGR2	64243461	0.820000	0.29190	0.998000	0.56505	0.954000	0.61252	0.363000	0.20301	0.658000	0.30925	0.655000	0.94253	CTG			0.697	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048245.2		NM_000399	
TRIM8	81603	mdanderson.org	37	10	104416978	104416978	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr10:104416978C>A	ENST00000302424.7	+	6	1645	c.1523C>A	c.(1522-1524)cCc>cAc	p.P508H		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	508					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCGCTCCCGCCCACACCCTCC	0.672																																					p.P508H													.	.			0			c.C1523A												45.0	41.0	42.0					10																	104416978		2203	4299	6502	SO:0001583	missense	81603	exon6			TCCCGCCCACACC	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1523C>A	10.37:g.104416978C>A	ENSP00000302120:p.Pro508His		45	0	0		35	0.09	3	NM_030912	101	0.00	0	A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275038	0.59649	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.79141	-1.24	5.25	5.25	0.73442	.	0.186201	0.47852	D	0.000215	T	0.73853	0.3640	N	0.14661	0.345	0.58432	D	0.999999	D	0.63046	0.992	P	0.51355	0.667	T	0.79603	-0.1735	10	0.87932	D	0	.	18.8291	0.92130	0.0:1.0:0.0:0.0	.	508	Q9BZR9	TRIM8_HUMAN	H	508;507	ENSP00000302120:P508H	ENSP00000302120:P508H	P	+	2	0	TRIM8	104406968	1.000000	0.71417	0.835000	0.33067	0.986000	0.74619	7.303000	0.78871	2.456000	0.83038	0.491000	0.48974	CCC			0.672	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050084.3		NM_030912	
PTDSS2	81490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	490432	490432	+	Silent	SNP	G	G	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:490432G>A	ENST00000308020.5	+	12	1490	c.1314G>A	c.(1312-1314)ttG>ttA	p.L438L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	438					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	ACATCACATTGAGGTACAAGG	0.652																																					p.L438L													.	.			0			c.G1314A												65.0	54.0	58.0					11																	490432		2202	4300	6502	SO:0001819	synonymous_variant	81490	exon12			CACATTGAGGTAC	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1314G>A	11.37:g.490432G>A			207	0	0		110	0.19	21	NM_030783	49	0.35	17		Silent	SNP	ENST00000308020.5	37	CCDS7696.1																																																																																					0.652	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239301.2			
FBXO3	26273	mdanderson.org	37	11	33780040	33780040	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:33780040C>T	ENST00000265651.3	-	4	484	c.466G>A	c.(466-468)Gtt>Att	p.V156I	FBXO3_ENST00000533103.1_5'Flank|FBXO3_ENST00000534136.1_Missense_Mutation_p.V156I|FBXO3_ENST00000526785.1_Missense_Mutation_p.V43I|FBXO3_ENST00000448981.2_Missense_Mutation_p.V156I|FBXO3_ENST00000530401.1_Missense_Mutation_p.V151I	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	156					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TACCCAGGAACCACTAACTTC	0.363																																					p.V156I													.	.			0			c.G466A												118.0	114.0	115.0					11																	33780040		2202	4298	6500	SO:0001583	missense	26273	exon4			CAGGAACCACTAA	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.466G>A	11.37:g.33780040C>T	ENSP00000265651:p.Val156Ile		91	0	0		51	0.06	3	NM_012175	8	0.00	0	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	6.948	0.544820	0.13312	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000321458;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.74	5.74	0.90152	Cell wall assembly/cell proliferation coordinating protein, KNR4-like (1);	0.055020	0.64402	D	0.000001	T	0.33206	0.0855	L	0.27053	0.805	0.58432	D	0.999992	B;B;B	0.15473	0.008;0.008;0.013	B;B;B	0.12156	0.007;0.007;0.004	T	0.12400	-1.0549	10	0.13853	T	0.58	-24.7278	19.915	0.97057	0.0:1.0:0.0:0.0	.	151;156;156	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	I	43;156;153;151;156;156	ENSP00000435680:V43I;ENSP00000265651:V156I;ENSP00000433781:V151I;ENSP00000431745:V156I;ENSP00000408836:V156I	ENSP00000265651:V156I	V	-	1	0	FBXO3	33736616	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	5.448000	0.66612	2.707000	0.92482	0.557000	0.71058	GTT			0.363	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388665.1		NM_012175	
C11orf48	79081	mdanderson.org	37	11	62437194	62437194	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:62437194G>T	ENST00000431002.2	-	1	2043	c.310C>A	c.(310-312)Ccc>Acc	p.P104T	C11orf48_ENST00000354588.3_Missense_Mutation_p.P78T|C11orf83_ENST00000377953.3_5'Flank|C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000532208.1_Missense_Mutation_p.P78T			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	104										endometrium(1)|lung(5)|urinary_tract(1)	7						TCCTCATGGGGCAAATGGAGA	0.527																																					p.P78T													.	.			0			c.C232A												123.0	119.0	120.0					11																	62437194		2202	4299	6501	SO:0001583	missense	79081	exon3			CATGGGGCAAATG	BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.310C>A	11.37:g.62437194G>T	ENSP00000416856:p.Pro104Thr		127	0	0		136	0.04	6	NM_024099	7	0.00	0	Q96NA4	Missense_Mutation	SNP	ENST00000431002.2	37		.	.	.	.	.	.	.	.	.	.	G	14.53	2.563020	0.45694	.	.	ENSG00000162194	ENST00000354588;ENST00000431002;ENST00000532208;ENST00000377954;ENST00000526490	.	.	.	4.32	3.36	0.38483	.	.	.	.	.	T	0.47060	0.1425	N	0.19112	0.55	0.80722	D	1	D;D	0.59357	0.985;0.959	P;P	0.55824	0.785;0.675	T	0.47995	-0.9073	8	0.87932	D	0	-0.01	6.4791	0.22053	0.1453:0.0:0.8547:0.0	.	78;78	B4DYP8;Q9BQE6-2	.;.	T	78;104;78;103;78	.	ENSP00000346600:P78T	P	-	1	0	C11orf48	62193770	0.998000	0.40836	0.720000	0.30636	0.925000	0.55904	1.584000	0.36589	1.081000	0.41110	0.563000	0.77884	CCC			0.527	C11orf48-004	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000395233.1		NM_024099	
NRXN2	9379	mdanderson.org	37	11	64418974	64418974	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:64418974G>T	ENST00000377551.1	-	13	2882	c.2671C>A	c.(2671-2673)Ccc>Acc	p.P891T	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.P884T|NRXN2_ENST00000265459.6_Missense_Mutation_p.P891T|NRXN2_ENST00000377559.3_Missense_Mutation_p.P851T			Q9P2S2	NRX2A_HUMAN	neurexin 2	891	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCATGTAGGGCTGGCCATTG	0.577											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P891T													NRXN2,NS,carcinoma,+2,1	NRXN2	2	1	0			c.C2671A												102.0	69.0	80.0					11																	64418974		2201	4297	6498	SO:0001583	missense	9379	exon14			TGTAGGGCTGGCC		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2671C>A	11.37:g.64418974G>T	ENSP00000366774:p.Pro891Thr		73	0	0	1076	52	0.06	3	NM_015080	9	0.00	0	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247249	0.59103	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.60797	0.16;0.21;0.16;0.26	4.93	4.93	0.64822	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.43110	U	0.000620	T	0.56411	0.1983	M	0.68593	2.085	0.42975	D	0.994442	P;P;P	0.46327	0.876;0.788;0.799	B;B;B	0.42030	0.373;0.231;0.343	T	0.57423	-0.7814	10	0.20519	T	0.43	.	15.6455	0.77046	0.0:0.0:1.0:0.0	.	851;891;637	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	T	891;851;891;851;884	ENSP00000366774:P891T;ENSP00000366782:P851T;ENSP00000265459:P891T;ENSP00000386416:P884T	ENSP00000265459:P891T	P	-	1	0	NRXN2	64175550	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.955000	0.56715	2.276000	0.75962	0.561000	0.74099	CCC			0.577	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104967.3		NM_015080	
AP5B1	91056	mdanderson.org	37	11	65545807	65545807	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:65545807G>T	ENST00000532090.2	-	2	2367	c.2157C>A	c.(2155-2157)cgC>cgA	p.R719R		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	719					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGCGGGCAGGGCGGCCAGGAC	0.667																																					p.R719R													.	.			0			c.C2157A												18.0	23.0	21.0					11																	65545807		2155	4250	6405	SO:0001819	synonymous_variant	91056	exon2			GGCAGGGCGGCCA	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.2157C>A	11.37:g.65545807G>T			50	0	0		38	0.08	3	NM_138368	18	0.00	0	A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	ENST00000532090.2	37	CCDS58146.1																																																																																					0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390636.2		NM_138368	
LAMTOR1	55004	mdanderson.org	37	11	71817127	71817127	+	5'Flank	SNP	C	C	T	rs553961145		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:71817127C>T	ENST00000278671.5	-	0	0				LRTOMT_ENST00000419228.1_Missense_Mutation_p.R37W|LAMTOR1_ENST00000538404.1_5'Flank|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000435085.1_Missense_Mutation_p.R77W|LAMTOR1_ENST00000545249.1_5'Flank|LAMTOR1_ENST00000535107.1_5'Flank|snoU13_ENST00000459046.1_RNA|LRTOMT_ENST00000307198.7_Missense_Mutation_p.R77W	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1						cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						GTCAGGGCTGCGGATCGAGGA	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18672	0.0		0.0	False		,,,				2504	0.0				p.R77W													.	.			0			c.C229T												35.0	36.0	36.0					11																	71817127		692	1591	2283	SO:0001631	upstream_gene_variant	220074	exon5			GGGCTGCGGATCG	AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"""p27kip1 releasing factor from RhoA"", ""protein associated with DRMs and endosomes"""	613510	"""chromosome 11 open reading frame 59"""	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869		11.37:g.71817127C>T	Exception_encountered		47	0	0		25	0.08	2	NM_001145308	2	0.00	0	Q8WZ09|Q9NWT0	Missense_Mutation	SNP	ENST00000278671.5	37	CCDS8209.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811813	0.50527	.	.	ENSG00000184154	ENST00000419228;ENST00000435085;ENST00000307198	D;D;D	0.90385	-2.66;-2.66;-2.66	4.59	4.59	0.56863	.	.	.	.	.	D	0.85035	0.5605	L	0.29908	0.895	0.09310	N	1	P;D	0.54772	0.946;0.968	B;B	0.43783	0.249;0.431	T	0.78231	-0.2284	9	0.72032	D	0.01	-7.4648	8.2405	0.31658	0.0:0.7525:0.1609:0.0867	.	77;37	Q8WZ04;Q8WZ04-2	TOMT_HUMAN;.	W	37;77;77	ENSP00000392233:R37W;ENSP00000409789:R77W;ENSP00000305742:R77W	ENSP00000305742:R37W	R	+	1	2	LRTOMT	71494775	0.515000	0.26210	0.968000	0.41197	0.986000	0.74619	0.960000	0.29253	2.532000	0.85374	0.462000	0.41574	CGG			0.647	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396733.1		NM_017907	
DSCAML1	57453	mdanderson.org	37	11	117352815	117352815	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:117352815G>T	ENST00000321322.6	-	12	2603	c.2602C>A	c.(2602-2604)Cta>Ata	p.L868I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L598I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	808	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGCAGTTTAGCTCCTTCGCA	0.642																																					p.L868I													.	.			0			c.C2602A												132.0	99.0	111.0					11																	117352815		2201	4296	6497	SO:0001583	missense	57453	exon12			AGTTTAGCTCCTT		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2602C>A	11.37:g.117352815G>T	ENSP00000315465:p.Leu868Ile		113	0.0088495575	1		42	0.07	3	NM_020693	0		0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271595	0.59649	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60797	0.16;0.16	3.89	3.89	0.44902	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61850	0.2380	M	0.69358	2.11	0.58432	D	0.999999	B	0.33583	0.418	B	0.39590	0.304	T	0.69281	-0.5186	9	0.72032	D	0.01	.	16.1057	0.81220	0.0:0.0:1.0:0.0	.	808	Q8TD84	DSCL1_HUMAN	I	598;868;575	ENSP00000434335:L598I;ENSP00000315465:L868I	ENSP00000315465:L868I	L	-	1	2	DSCAML1	116858025	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	4.023000	0.57211	2.000000	0.58554	0.485000	0.47835	CTA			0.642	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392907.2		NM_020693	
OR8D1	283159	mdanderson.org	37	11	124179874	124179874	+	Silent	SNP	A	A	G	rs200912007		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:124179874A>G	ENST00000357821.2	-	1	859	c.789T>C	c.(787-789)ccT>ccC	p.P263P		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	263						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(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGTTACTTGAAGGGGGCTTGA	0.493																																					p.P263P													.	.			0			c.T789C												96.0	92.0	94.0					11																	124179874		2201	4299	6500	SO:0001819	synonymous_variant	283159	exon1			ACTTGAAGGGGGC	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.789T>C	11.37:g.124179874A>G			105	0.0095238095	1		50	0.06	3	NM_001002917	0		0	B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	37	CCDS31706.1																																																																																			0		0.493	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387285.1		NM_001002917	
CACNA1C	775	mdanderson.org	37	12	2774012	2774012	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr12:2774012G>T	ENST00000347598.4	+	37	4398	c.4398G>T	c.(4396-4398)tgG>tgT	p.W1466C	CACNA1C_ENST00000399606.1_Missense_Mutation_p.W1438C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.W1446C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.W1405C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.W1440C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.W1435C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.W1407C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.W1443C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.W1407C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.W1418C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1466					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGAGGCCTGGCAGGACATCA	0.637																																					p.W1466C													.	.			0			c.G4398T												27.0	29.0	28.0					12																	2774012		2169	4290	6459	SO:0001583	missense	775	exon37			GGCCTGGCAGGAC	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4398G>T	12.37:g.2774012G>T	ENSP00000266376:p.Trp1466Cys		44	0	0		25	0.12	3	NM_199460	0		0	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057753	0.76074	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	4.07	4.07	0.47477	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99847	4.84	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.999;0.999;0.998;0.999;0.999;0.999;0.999;1.0;0.999;0.999;1.0;0.999;0.999;1.0;0.995;1.0;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.97709	1.0189	10	0.87932	D	0	.	16.8336	0.85951	0.0:0.0:1.0:0.0	.	109;1440;1415;1466;1418;1418;1418;1435;1446;1418;1438;1418;1378;1466;1418;1418;1418;1407;1405;1407;1407;1418;1418;1418;1418	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1443;1418;1418;1446;1418;1418;1418;1407;1418;1466;1438;1418;1440;1435;1418;1405;1418;1418;1418;1418;1418;1407;1248	ENSP00000336982:W1443C;ENSP00000382563:W1418C;ENSP00000382552:W1418C;ENSP00000382547:W1446C;ENSP00000382506:W1418C;ENSP00000382530:W1418C;ENSP00000382546:W1418C;ENSP00000382500:W1407C;ENSP00000382549:W1418C;ENSP00000266376:W1466C;ENSP00000382515:W1438C;ENSP00000382510:W1418C;ENSP00000341092:W1440C;ENSP00000382537:W1435C;ENSP00000329877:W1418C;ENSP00000382557:W1405C;ENSP00000385724:W1418C;ENSP00000382512:W1418C;ENSP00000382542:W1418C;ENSP00000382526:W1418C;ENSP00000385896:W1418C;ENSP00000382504:W1407C	ENSP00000323129:W1248C	W	+	3	0	CACNA1C	2644273	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.264000	0.75181	0.561000	0.74099	TGG			0.637	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317035.1		NM_000719	
CASC1	55259	broad.mit.edu	37	12	25343549	25343549	+	Intron	DEL	T	T	-			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr12:25343549delT	ENST00000320267.9	-	1	85				CASC1_ENST00000557684.1_Intron|CASC1_ENST00000395987.3_Splice_Site_p.K7fs|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000354189.5_Splice_Site_p.K65fs|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395990.2_5'UTR	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTACATACCTTTTTTGCTTT	0.229																																					p.K65fs													.	CASC1	146		0			c.194delA												38.0	38.0	38.0					12																	25343549		1776	4021	5797	SO:0001627	intron_variant	55259	exon2			CATACCTTTTTTG	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.3+4460A>-	12.37:g.25343549delT			440	0	0		3662	0.00	7	NM_001082972	0		0	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Splice_Site	DEL	ENST00000320267.9	37	CCDS41762.1																																																																																					0.229	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000316761.1		NM_018272	
YAF2	10138	mdanderson.org	37	12	42631962	42631962	+	Silent	SNP	G	G	T	rs377532776		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr12:42631962G>T	ENST00000534854.2	-	1	88	c.21C>A	c.(19-21)ccC>ccA	p.P7P	YAF2_ENST00000380788.3_5'UTR|YAF2_ENST00000327791.4_Silent_p.P7P|YAF2_ENST00000555248.2_Silent_p.P7P|YAF2_ENST00000380790.4_Silent_p.P7P|PPHLN1_ENST00000549190.1_5'Flank|YAF2_ENST00000442791.3_Silent_p.P7P|YAF2_ENST00000541702.2_5'UTR	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	7					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		GTTACCTGGTGGGGCTCTTCT	0.701																																					p.P7P													.	.			0			c.C21A												7.0	9.0	8.0					12																	42631962		2143	4248	6391	SO:0001819	synonymous_variant	10138	exon1			CCTGGTGGGGCTC	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.21C>A	12.37:g.42631962G>T			93	0.0107526882	1		47	0.06	3	NM_005748	8	0.00	0	A8K5P0|B4DFU3|G3V465|Q99710	Silent	SNP	ENST00000534854.2	37	CCDS31775.1																																																																																					0.701	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403781.1			
EBPL	84650	hgsc.bcm.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418																																					p.L189V	NSCLC(39;857 1083 36109 42364 51411)												EBPL,NS,carcinoma,0,9	EBPL	0	9	9	Substitution - Missense(9)	endometrium(6)|kidney(3)	c.C565G												67.0	67.0	67.0					13																	50235160		2203	4300	6503	SO:0001583	missense	84650	exon4			GTTCTAGCCATGA	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.565C>G	13.37:g.50235160G>C	ENSP00000242827:p.Leu189Val		131	0.0152671756	2		74	0.05	4	NM_032565	322	0.00	1	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	3.076	-0.189988	0.06299	.	.	ENSG00000123179	ENST00000242827	D	0.97850	-4.57	5.61	2.84	0.33178	.	0.689671	0.14945	N	0.289287	D	0.88179	0.6367	N	0.00621	-1.32	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.79482	-0.1785	10	0.25751	T	0.34	-0.2032	8.3049	0.32036	0.0:0.4998:0.3595:0.1406	.	189	Q9BY08	EBPL_HUMAN	V	189	ENSP00000242827:L189V	ENSP00000242827:L189V	L	-	1	2	EBPL	49133161	0.000000	0.05858	0.303000	0.25071	0.899000	0.52679	-1.071000	0.03437	0.397000	0.25310	-0.127000	0.14921	CTA			0.418	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044932.2		NM_032565	
DCT	1638	mdanderson.org	37	13	95121166	95121166	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr13:95121166G>T	ENST00000377028.5	-	2	842	c.429C>A	c.(427-429)ggC>ggA	p.G143G	DCT_ENST00000446125.1_Silent_p.G143G|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	143					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GATCTAAGGCGCCCAAGAACT	0.562																																					p.G143G													DCT_ENST00000446125,colon,carcinoma,0,5	DCT_ENST00000446125	0	5	0			c.C429A												222.0	221.0	222.0					13																	95121166		2203	4300	6503	SO:0001819	synonymous_variant	1638	exon2			TAAGGCGCCCAAG	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.429C>A	13.37:g.95121166G>T			91	0	0		51	0.06	3	NM_001129889	0		0	Q09GT4	Silent	SNP	ENST00000377028.5	37	CCDS9470.1																																																																																					0.562	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045461.3			
RNF31	55072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	24620535	24620535	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr14:24620535C>T	ENST00000324103.6	+	9	2004	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y	RNF31_ENST00000559275.1_Missense_Mutation_p.H411Y|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.H37Y|RNF31_ENST00000382687.3_Missense_Mutation_p.H411Y	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	562					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCTGGATCGTCATGGCAACCT	0.597																																					p.H562Y													.	.			0			c.C1684T												71.0	79.0	76.0					14																	24620535		2152	4246	6398	SO:0001583	missense	55072	exon9			GATCGTCATGGCA	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1684C>T	14.37:g.24620535C>T	ENSP00000315112:p.His562Tyr		83	0	0		45	0.16	7	NM_017999	137	0.32	44	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869589	0.51588	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.42900	0.96;0.96	5.31	4.42	0.53409	UBA-like (1);	0.137318	0.52532	D	0.000080	T	0.44222	0.1283	L	0.36672	1.1	0.30522	N	0.768361	P;D;D	0.62365	0.927;0.985;0.991	B;P;P	0.56088	0.406;0.622;0.791	T	0.46428	-0.9192	10	0.48119	T	0.1	-11.5739	8.8741	0.35334	0.0:0.7694:0.1499:0.0807	.	321;562;411	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	Y	562;411	ENSP00000315112:H562Y;ENSP00000372134:H411Y	ENSP00000315112:H562Y	H	+	1	0	RNF31	23690375	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	2.488000	0.45276	1.468000	0.48064	0.655000	0.94253	CAT			0.597	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071921.3		NM_017999	
TSHR	7253	mdanderson.org	37	14	81422036	81422036	+	Silent	SNP	G	G	A	rs377366847		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr14:81422036G>A	ENST00000541158.2	+	2	334	c.12G>A	c.(10-12)gcG>gcA	p.A4A	TSHR_ENST00000554435.1_Silent_p.A4A|TSHR_ENST00000298171.2_Silent_p.A4A|TSHR_ENST00000554263.1_Silent_p.A4A|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000342443.6_Silent_p.A4A			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	4					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGAGGCCGGCGGACTTGCTGC	0.617			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.A4A			yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	.			0			c.G12A							G	,,	1,4405	2.1+/-5.4	0,1,2202	62.0	69.0	66.0		12,12,12	-1.9	0.0	14	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TSHR	NM_000369.2,NM_001018036.2,NM_001142626.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	4/765,4/254,4/275	81422036	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7253	exon1			GCCGGCGGACTTG	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.12G>A	14.37:g.81422036G>A			42	0	0		26	0.08	2	NM_000369	1	0.00	0	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																					0.617	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413364.1		NM_000369	
C14orf159	80017	broad.mit.edu	37	14	91671092	91671092	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr14:91671092A>G	ENST00000523771.1	+	12	2075	c.1472A>G	c.(1471-1473)aAg>aGg	p.K491R	C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000412671.2_Missense_Mutation_p.K496R|C14orf159_ENST00000518868.1_Missense_Mutation_p.K496R|C14orf159_ENST00000256324.10_Missense_Mutation_p.K496R|C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000428926.2_Missense_Mutation_p.K491R|C14orf159_ENST00000525393.2_Missense_Mutation_p.K367R|C14orf159_ENST00000523816.1_Missense_Mutation_p.K491R|C14orf159_ENST00000522322.1_Missense_Mutation_p.K491R			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	491						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GGTAAAGTCAAGGAGGCTGTG	0.617																																					p.K496R													.	C14orf159	57		0			c.A1487G												170.0	111.0	131.0					14																	91671092		2203	4300	6503	SO:0001583	missense	80017	exon12			AAGTCAAGGAGGC	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1472A>G	14.37:g.91671092A>G	ENSP00000429655:p.Lys491Arg		70	0	0		66	0.05	3	NM_001102368	58	0.00	0	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.93|16.93	3.257770|3.257770	0.59321|0.59321	.|.	.|.	ENSG00000133943|ENSG00000133943	ENST00000256324;ENST00000518868;ENST00000523816;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671|ENST00000522816	T;T;T;T;T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28|.	5.17|5.17	4.02|4.02	0.46733|0.46733	.|.	0.167530|.	0.51477|.	D|.	0.000097|.	T|T	0.57388|0.57388	0.2050|0.2050	L|L	0.47190|0.47190	1.495|1.495	0.42288|0.42288	D|D	0.992129|0.992129	B;P;B|.	0.51537|.	0.413;0.946;0.36|.	B;P;B|.	0.45881|.	0.096;0.496;0.058|.	T|T	0.53070|0.53070	-0.8490|-0.8490	10|5	0.18710|.	T|.	0.47|.	.|.	10.6184|10.6184	0.45465|0.45465	0.923:0.0:0.077:0.0|0.923:0.0:0.077:0.0	.|.	491;367;496|.	Q7Z3D6;Q8NB88;Q7Z3D6-2|.	CN159_HUMAN;.;.|.	R|G	496;496;491;367;491;491;491;496|92	ENSP00000256324:K496R;ENSP00000428263:K496R;ENSP00000428974:K491R;ENSP00000435459:K367R;ENSP00000404343:K491R;ENSP00000427953:K491R;ENSP00000429655:K491R;ENSP00000404196:K496R|.	ENSP00000256324:K496R|.	K|R	+|+	2|1	0|2	C14orf159|C14orf159	90740845|90740845	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.780000|0.780000	0.44128|0.44128	4.674000|4.674000	0.61612|0.61612	0.808000|0.808000	0.34231|0.34231	0.482000|0.482000	0.46254|0.46254	AAG|AGG			0.617	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381273.1		NM_024952	
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C	rs540968052		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383																																					.													.	.			0			.																																											0	.			TCTCTTATTACTA																													15.37:g.22332492A>C			90	0.0111111111	1		80	0.04	3	.	0		0		RNA	SNP	ENST00000558896.1	37																																																																																						0.383	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping		OTTHUMT00000417625.1			
CASC5	57082	broad.mit.edu	37	15	40915174	40915175	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr15:40915174_40915175delTA	ENST00000346991.5	+	11	3180_3181	c.2790_2791delTA	c.(2788-2793)actattfs	p.I931fs	CASC5_ENST00000399668.2_Frame_Shift_Del_p.I905fs|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	931	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTCTGAAACTATTTTATATAC	0.361																																					p.930_931del													.	CASC5	269		0			c.2790_2791del																																									SO:0001589	frameshift_variant	57082	exon11			TGAAACTATTTTA	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2790_2791delTA	15.37:g.40915174_40915175delTA	ENSP00000335463:p.Ile931fs		169	0	0		169	0.06	10	NM_170589	5	0.00	0	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Del	DEL	ENST00000346991.5	37	CCDS42023.1																																																																																					0.361	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390224.2		NM_144508	
RFX7	64864	hgsc.bcm.edu	37	15	56385646	56385646	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr15:56385646G>T	ENST00000559447.2	-	9	4260	c.3989C>A	c.(3988-3990)cCa>cAa	p.P1330Q	RFX7_ENST00000317318.6_Intron|RFX7_ENST00000422057.1_Intron|RFX7_ENST00000423270.1_Missense_Mutation_p.P1427Q			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1330					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTGAAATAATGGGTCATTCTT	0.378																																					p.P1427Q													.	.			0			c.C4280A												117.0	106.0	110.0					15																	56385646		1887	4111	5998	SO:0001583	missense	64864	exon9			AATAATGGGTCAT			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3989C>A	15.37:g.56385646G>T	ENSP00000453281:p.Pro1330Gln		117	0	0		97	0.04	4	NM_022841	11	0.00	0	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	G	14.00	2.406229	0.42715	.	.	ENSG00000181827	ENST00000423270	T	0.68181	-0.31	5.87	5.87	0.94306	.	0.000000	0.49916	U	0.000133	T	0.69522	0.3120	L	0.29908	0.895	0.58432	D	0.999998	D	0.60575	0.988	P	0.53912	0.737	T	0.71817	-0.4478	10	0.87932	D	0	-9.1923	19.5705	0.95413	0.0:0.0:1.0:0.0	.	1330	Q2KHR2	RFX7_HUMAN	Q	1427	ENSP00000397644:P1427Q	ENSP00000397644:P1427Q	P	-	2	0	RFX7	54172938	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	5.167000	0.64972	2.941000	0.99782	0.655000	0.94253	CCA			0.378	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding		OTTHUMT00000418841.3		NM_022841	
UBL7	84993	mdanderson.org	37	15	74744664	74744664	+	Silent	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr15:74744664C>T	ENST00000567435.1	-	4	823	c.360G>A	c.(358-360)ctG>ctA	p.L120L	UBL7_ENST00000565335.1_Silent_p.L120L|UBL7_ENST00000361351.4_Silent_p.L120L|UBL7_ENST00000395081.2_Silent_p.L120L|UBL7_ENST00000564488.1_Silent_p.L120L			Q96S82	UBL7_HUMAN	ubiquitin-like 7	120										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AGCTGCTGTGCAGGGCAGTGT	0.602																																					p.L120L													.	.			0			c.G360A												49.0	38.0	42.0					15																	74744664		2189	4268	6457	SO:0001819	synonymous_variant	84993	exon4			GCTGTGCAGGGCA	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.360G>A	15.37:g.74744664C>T			41	0	0		29	0.10	3	NM_201265	154	0.00	0	D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	CCDS10263.1																																																																																					0.602	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419627.1		NM_032907, NM_201265	
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																					.													.	.			6	Substitution - Missense(6)	endometrium(5)|kidney(1)	.																																											0	.			AGTATCTTCAGAG			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C			288	0	0		234	0.03	6	.	2	0.00	0		RNA	SNP	ENST00000564580.1	37		.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT			0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000433243.1		NR_003369	
ADCY7	113	mdanderson.org	37	16	50338324	50338324	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:50338324G>T	ENST00000394697.2	+	11	1762	c.1422G>T	c.(1420-1422)gcG>gcT	p.A474A	ADCY7_ENST00000566433.2_Silent_p.A474A|ADCY7_ENST00000538642.1_Silent_p.A474A|ADCY7_ENST00000254235.3_Silent_p.A474A|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	474					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		AGGGGGACGCGGCCCTGAAGA	0.692																																					p.A474A													.	.			0			c.G1422T												33.0	33.0	33.0					16																	50338324		2198	4297	6495	SO:0001819	synonymous_variant	113	exon10			GGACGCGGCCCTG	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1422G>T	16.37:g.50338324G>T			41	0	0		24	0.08	2	NM_001114	20	0.00	0	A0AVA6	Silent	SNP	ENST00000394697.2	37	CCDS10741.1																																																																																					0.692	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256877.3			
AMFR	267	mdanderson.org	37	16	56448166	56448166	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:56448166G>T	ENST00000290649.5	-	2	556	c.346C>A	c.(346-348)Cag>Aag	p.Q116K	AMFR_ENST00000564283.1_5'Flank|RP11-413H22.2_ENST00000563090.1_RNA	NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	116					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						AGACTTACCTGTCTCTCACTC	0.373																																					p.Q116K	Pancreas(2;144 323 39528)												.	.			0			c.C346A												165.0	152.0	156.0					16																	56448166		2198	4300	6498	SO:0001583	missense	267	exon2			TTACCTGTCTCTC	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.346C>A	16.37:g.56448166G>T	ENSP00000290649:p.Gln116Lys		68	0	0		40	0.08	3	NM_001144	21	0.00	0	P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589616	0.86851	.	.	ENSG00000159461	ENST00000290649	T	0.15952	2.38	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	M	0.74647	2.275	0.80722	D	1	B	0.32731	0.382	B	0.32465	0.146	T	0.04255	-1.0965	10	0.46703	T	0.11	-20.2509	18.989	0.92783	0.0:0.0:1.0:0.0	.	116	Q9UKV5	AMFR2_HUMAN	K	116	ENSP00000290649:Q116K	ENSP00000290649:Q116K	Q	-	1	0	AMFR	55005667	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.640000	0.98453	2.479000	0.83701	0.563000	0.77884	CAG			0.373	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256978.2			
CNOT1	23019	mdanderson.org	37	16	58577329	58577329	+	Intron	SNP	C	C	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:58577329C>A	ENST00000317147.5	-	31	4767				CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.C1539F	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		aaaaaaaaaacacacagacat	0.299																																					p.C1539F													.	.			0			c.G4616T												22.0	22.0	22.0					16																	58577329		1016	2124	3140	SO:0001627	intron_variant	23019	exon31			AAAAAACACACAG	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+181G>T	16.37:g.58577329C>A			138	0.0724637681	10		132	0.13	17	NM_206999	4	0.00	0	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.783986	0.00004	.	.	ENSG00000125107	ENST00000441024	T	0.45668	0.89	0.113	-0.226	0.13106	.	.	.	.	.	T	0.34483	0.0899	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36480	-0.9746	5	0.87932	D	0	.	.	.	.	.	1539	A5YKK6-4	.	F	1539	ENSP00000413113:C1539F	ENSP00000413113:C1539F	C	-	2	0	CNOT1	57134830	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.732000	0.04904	-1.282000	0.02396	-1.292000	0.01352	TGT			0.299	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257385.3		NM_016284	
KCTD19	146212	mdanderson.org	37	16	67333331	67333331	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:67333331G>T	ENST00000304372.5	-	6	976	c.921C>A	c.(919-921)atC>atA	p.I307I	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	307					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCGTGCTCTCGATGCGAAGCT	0.607																																					p.I307I													KCTD19,NS,carcinoma,0,1	KCTD19	0	1	0			c.C921A												89.0	96.0	94.0					16																	67333331		2096	4217	6313	SO:0001819	synonymous_variant	146212	exon6			GCTCTCGATGCGA	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.921C>A	16.37:g.67333331G>T			95	0	0		39	0.08	3	NM_001100915	1	0.00	0	B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	CCDS42179.1																																																																																					0.607	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422061.1		XM_085367	
GLG1	2734	mdanderson.org	37	16	74516992	74516992	+	Nonsense_Mutation	SNP	G	G	T	rs370503981		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:74516992G>T	ENST00000422840.2	-	10	1601	c.1602C>A	c.(1600-1602)taC>taA	p.Y534*	GLG1_ENST00000447066.2_Nonsense_Mutation_p.Y523*|GLG1_ENST00000205061.5_Nonsense_Mutation_p.Y534*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	534					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTTCTCTGTGTATAAATGTT	0.383																																					p.Y534X													.	.			0			c.C1602A												131.0	127.0	128.0					16																	74516992		2198	4300	6498	SO:0001587	stop_gained	2734	exon10			CTCTGTGTATAAA		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1602C>A	16.37:g.74516992G>T	ENSP00000405984:p.Tyr534*		47	0	0		19	0.16	3	NM_001145667	123	0.00	0	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Nonsense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	36	5.885496	0.97068	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.03	0.626	0.17670	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4664	10.6853	0.45839	0.4131:0.0:0.5869:0.0	.	.	.	.	X	534;523;534	.	ENSP00000205061:Y534X	Y	-	3	2	GLG1	73074493	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	4.059000	0.57470	-0.082000	0.12640	-0.302000	0.09304	TAC			0.383	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000435750.1		NM_012201	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274.0	265.0	268.0					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		195	0.0358974359	7		213	0.07	14	NM_145301	58	0.28	16	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301	
SREBF1	6720	mdanderson.org	37	17	17716712	17716712	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:17716712T>C	ENST00000261646.5	-	18	3368	c.3184A>G	c.(3184-3186)Agg>Ggg	p.R1062G	SREBF1_ENST00000395757.1_Missense_Mutation_p.R808G|SREBF1_ENST00000355815.4_Missense_Mutation_p.R1092G|SREBF1_ENST00000338854.5_Intron|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1062					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GCCCGCCGCCTCAGACTGCGG	0.682																																					p.R1092G													.	.			0			c.A3274G												15.0	18.0	17.0					17																	17716712		2190	4295	6485	SO:0001583	missense	6720	exon19			GCCGCCTCAGACT	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3184A>G	17.37:g.17716712T>C	ENSP00000261646:p.Arg1062Gly		32	0	0		26	0.12	3	NM_001005291	123	0.00	0	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.77|17.77	3.472046|3.472046	0.63737|0.63737	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	.|T;T;T	.|0.12774	.|2.65;2.65;2.65	5.33|5.33	-0.0582|-0.0582	0.13798|0.13798	.|.	.|0.122542	.|0.51477	.|D	.|0.000098	T|T	0.39682|0.39682	0.1087|0.1087	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.991;0.995;1.0	.|P;D;D	.|0.76071	.|0.86;0.939;0.987	T|T	0.53092|0.53092	-0.8487|-0.8487	5|10	.|0.87932	.|D	.|0	-25.3258|-25.3258	16.2646|16.2646	0.82568|0.82568	0.0:0.0:0.7257:0.2743|0.0:0.0:0.7257:0.2743	.|.	.|1062;1092;681	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	G|G	1069|1092;1062;808;681;899;988	.|ENSP00000348069:R1092G;ENSP00000261646:R1062G;ENSP00000379106:R808G	.|ENSP00000261646:R1062G	E|R	-|-	2|1	0|2	SREBF1|SREBF1	17657437|17657437	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.263000|0.263000	0.26337|0.26337	1.755000|1.755000	0.38379|0.38379	-0.015000|-0.015000	0.14150|0.14150	0.459000|0.459000	0.35465|0.35465	GAG|AGG			0.682	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131771.1		NM_004176	
SP6	80320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	45925774	45925774	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:45925774A>C	ENST00000536300.1	-	2	353	c.22T>G	c.(22-24)Tct>Gct	p.S8A	SP6_ENST00000342234.2_Missense_Mutation_p.S8A	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	8					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CTGCCCAGAGAGCCGCAGACA	0.687																																					p.S8A													.	.			0			c.T22G												4.0	5.0	5.0					17																	45925774		2116	4153	6269	SO:0001583	missense	80320	exon2			CCAGAGAGCCGCA		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.22T>G	17.37:g.45925774A>C	ENSP00000438209:p.Ser8Ala		64	0	0		45	0.33	15	NM_001258248	2	0.00	0	B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967382	0.53507	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.10192	2.9;2.9	4.29	4.29	0.51040	.	0.000000	0.41712	D	0.000831	T	0.05456	0.0144	N	0.08118	0	0.26568	N	0.973613	P	0.36222	0.544	B	0.28385	0.089	T	0.26467	-1.0102	10	0.62326	D	0.03	.	12.5427	0.56182	1.0:0.0:0.0:0.0	.	8	Q3SY56	SP6_HUMAN	A	8	ENSP00000340799:S8A;ENSP00000438209:S8A	ENSP00000340799:S8A	S	-	1	0	SP6	43280773	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.614000	0.46359	1.791000	0.52520	0.379000	0.24179	TCT			0.687	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441395.1		NM_199262	
PDK2	5164	mdanderson.org	37	17	48186690	48186690	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:48186690G>T	ENST00000503176.1	+	10	1170	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S	PDK2_ENST00000007708.3_Missense_Mutation_p.A273S	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	337	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CCGCCTCTACGCCAAGTACTT	0.617									Autosomal Dominant Polycystic Kidney Disease																												p.A337S													.	.			0			c.G1009T												72.0	58.0	63.0					17																	48186690		2203	4300	6503	SO:0001583	missense	5164	exon10	Familial Cancer Database	ADPKD	CTCTACGCCAAGT	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.1009G>T	17.37:g.48186690G>T	ENSP00000420927:p.Ala337Ser		53	0	0		43	0.07	3	NM_002611	28	0.00	0	A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226540	0.95173	.	.	ENSG00000005882	ENST00000007708;ENST00000503176	T;T	0.55760	0.5;0.5	4.85	4.85	0.62838	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.065111	0.64402	D	0.000012	T	0.79381	0.4436	M	0.92412	3.305	0.80722	D	1	D	0.64830	0.994	D	0.83275	0.996	D	0.85068	0.0938	10	0.87932	D	0	-31.4669	17.1039	0.86657	0.0:0.0:1.0:0.0	.	337	Q15119	PDK2_HUMAN	S	273;337	ENSP00000007708:A273S;ENSP00000420927:A337S	ENSP00000007708:A273S	A	+	1	0	PDK2	45541689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.659000	0.98597	2.401000	0.81631	0.462000	0.41574	GCC			0.617	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366492.2		NM_002611	
CACNA1G	8913	mdanderson.org	37	17	48638948	48638948	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:48638948G>T	ENST00000359106.5	+	1	128	c.128G>T	c.(127-129)aGc>aTc	p.S43I	CACNA1G_ENST00000429973.2_Missense_Mutation_p.S43I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S43I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S43I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S43I|CACNA1G-AS1_ENST00000505793.1_RNA|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S43I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S43I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S43I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S43I|CACNA1G-AS1_ENST00000505495.1_RNA|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S43I|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S43I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S43I|RP11-94C24.11_ENST00000513378.1_RNA|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S43I|CACNA1G-AS1_ENST00000508920.1_RNA	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	43					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACCCGGGCAGCGCGGACTCC	0.736																																					p.S43I													.	.			0			c.G128T												4.0	5.0	5.0					17																	48638948		1660	3765	5425	SO:0001583	missense	8913	exon1			CGGGCAGCGCGGA	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.128G>T	17.37:g.48638948G>T	ENSP00000352011:p.Ser43Ile		14	0	0		13	0.15	2	NM_198387	1	0.00	0	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	13.67	2.307369	0.40795	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96992	-4.05;-4.05;-4.2;-3.99;-4.05;-4.04;-4.07;-4.14;-4.12;-4.13;-4.14;-4.01;-4.02;-4.08;-4.03;-3.99;-4.07;-4.03;-4.01;-4.07;-4.04;-4.02;-4.07;-4.01;-4.07;-4.07	2.76	2.76	0.32466	.	1.857770	0.03440	N	0.209238	D	0.96024	0.8705	L	0.29908	0.895	0.38898	D	0.957257	P;D;P;D;P;D;P;P;B;D;D;P;B;P;D	0.76494	0.637;0.994;0.768;0.999;0.504;0.997;0.822;0.504;0.384;0.996;0.99;0.602;0.017;0.666;0.998	P;P;B;D;B;P;B;B;B;D;D;B;B;B;D	0.76575	0.511;0.759;0.256;0.988;0.165;0.899;0.268;0.313;0.088;0.974;0.929;0.196;0.013;0.092;0.953	D	0.92265	0.5820	10	0.22706	T	0.39	.	5.6868	0.17807	0.147:0.0:0.853:0.0	.	43;43;43;43;43;43;43;43;43;43;43;43;43;43;43	O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	I	43	ENSP00000353990:S43I;ENSP00000339302:S43I;ENSP00000392390:S43I;ENSP00000347078:S43I;ENSP00000409759:S43I;ENSP00000425522:S43I;ENSP00000426261:S43I;ENSP00000425451:S43I;ENSP00000422407:S43I;ENSP00000426814:S43I;ENSP00000427238:S43I;ENSP00000423112:S43I;ENSP00000420918:S43I;ENSP00000426172:S43I;ENSP00000423045:S43I;ENSP00000427173:S43I;ENSP00000426098:S43I;ENSP00000425698:S43I;ENSP00000426232:S43I;ENSP00000423317:S43I;ENSP00000350979:S43I;ENSP00000352011:S43I;ENSP00000414388:S43I;ENSP00000423155:S43I;ENSP00000422268:S43I;ENSP00000421518:S43I	ENSP00000339302:S43I	S	+	2	0	CACNA1G	45993947	.	.	1.000000	0.80357	0.939000	0.58152	.	.	1.854000	0.53819	0.462000	0.41574	AGC			0.736	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000367895.1		NM_018896	
MRC2	9902	mdanderson.org	37	17	60758222	60758222	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:60758222G>T	ENST00000303375.5	+	17	2937	c.2535G>T	c.(2533-2535)acG>acT	p.T845T	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	845	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACCACTCCACGTGGGCGCAGG	0.667																																					p.T845T													.	.			0			c.G2535T												26.0	25.0	25.0					17																	60758222		2202	4299	6501	SO:0001819	synonymous_variant	9902	exon17			CTCCACGTGGGCG	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2535G>T	17.37:g.60758222G>T			52	0	0		35	0.09	3	NM_006039	38	0.00	0	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	CCDS11634.1																																																																																					0.667	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445152.1			
HGS	9146	mdanderson.org	37	17	79660778	79660778	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:79660778G>T	ENST00000329138.4	+	10	971	c.836G>T	c.(835-837)aGg>aTg	p.R279M		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	279	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GAGAAGGAGAGGCTGGTAAGC	0.716																																					p.R279M													.	.			0			c.G836T												5.0	6.0	6.0					17																	79660778		2116	4150	6266	SO:0001583	missense	9146	exon10			AGGAGAGGCTGGT	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.836G>T	17.37:g.79660778G>T	ENSP00000331201:p.Arg279Met		35	0	0		21	0.10	2	NM_004712	84	0.00	0	Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600704	0.87055	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.43688	0.94	4.39	3.41	0.39046	.	0.164157	0.49916	D	0.000127	T	0.59445	0.2194	M	0.76002	2.32	0.58432	D	0.999991	D	0.76494	0.999	D	0.64144	0.922	T	0.63143	-0.6703	10	0.72032	D	0.01	-30.8784	11.2441	0.48987	0.09:0.0:0.91:0.0	.	279	O14964	HGS_HUMAN	M	279	ENSP00000331201:R279M	ENSP00000331201:R279M	R	+	2	0	HGS	77271183	1.000000	0.71417	0.979000	0.43373	0.988000	0.76386	9.057000	0.93889	0.953000	0.37825	0.655000	0.94253	AGG			0.716	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440541.1		NM_004712	
CCDC57	284001	mdanderson.org	37	17	80129588	80129588	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:80129588G>T	ENST00000389641.4	-	12	1907	c.1871C>A	c.(1870-1872)aCa>aAa	p.T624K	CCDC57_ENST00000392343.3_Missense_Mutation_p.T624K|CCDC57_ENST00000392347.1_Missense_Mutation_p.T624K|CCDC57_ENST00000327026.3_5'UTR			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	624										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGTCGTCTCTGTCGAGGTGCG	0.478																																					p.T624K													.	.			0			c.C1871A												87.0	88.0	88.0					17																	80129588		1935	4137	6072	SO:0001583	missense	284001	exon12			GTCTCTGTCGAGG	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1871C>A	17.37:g.80129588G>T	ENSP00000374292:p.Thr624Lys		31	0	0		41	0.07	3	NM_198082	8	0.00	0	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		.	.	.	.	.	.	.	.	.	.	G	9.246	1.039609	0.19669	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.20332	3.24;3.24;2.08	3.14	2.13	0.27403	.	2.008220	0.02779	N	0.120604	T	0.20007	0.0481	L	0.44542	1.39	0.09310	N	0.999996	B;P	0.42518	0.103;0.782	B;B	0.37144	0.039;0.242	T	0.26087	-1.0113	10	0.46703	T	0.11	0.2074	7.3722	0.26808	0.0:0.0:0.7149:0.2851	.	624;624	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	K	624;624;132;624	ENSP00000374292:T624K;ENSP00000376158:T624K;ENSP00000376154:T624K	ENSP00000315967:T132K	T	-	2	0	CCDC57	77722877	0.002000	0.14202	0.007000	0.13788	0.030000	0.12068	1.200000	0.32247	0.833000	0.34828	0.561000	0.74099	ACA			0.478	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000277182.3		NM_198082	
MYOM1	8736	mdanderson.org	37	18	3173970	3173970	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr18:3173970G>T	ENST00000356443.4	-	8	1473	c.1140C>A	c.(1138-1140)cgC>cgA	p.R380R	MYOM1_ENST00000400569.3_Silent_p.R380R|MYOM1_ENST00000261606.7_Silent_p.R380R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	380					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGCGTGGAAGCGAGTCTCAT	0.398																																					p.R380R													.	.			0			c.C1140A												84.0	81.0	82.0					18																	3173970		1864	4106	5970	SO:0001819	synonymous_variant	8736	exon8			GTGGAAGCGAGTC	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1140C>A	18.37:g.3173970G>T			64	0	0		42	0.07	3	NM_003803	2	0.00	0	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																					0.398	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000441037.2		NM_003803	
ANKRD12	23253	mdanderson.org	37	18	9204531	9204531	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr18:9204531G>T	ENST00000262126.4	+	4	533	c.293G>T	c.(292-294)aGg>aTg	p.R98M	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Intron|ANKRD12_ENST00000400020.3_Intron	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	98						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCTTCTTACAGGACATACTCA	0.363																																					p.R98M													.	.			0			c.G293T												75.0	73.0	73.0					18																	9204531		2203	4300	6503	SO:0001583	missense	23253	exon4			CTTACAGGACATA	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.293G>T	18.37:g.9204531G>T	ENSP00000262126:p.Arg98Met		51	0	0		23	0.09	2	NM_015208	1	0.00	0	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303835	0.81136	.	.	ENSG00000101745	ENST00000262126;ENST00000540578	T	0.05649	3.41	5.64	5.64	0.86602	.	0.052935	0.85682	D	0.000000	T	0.19725	0.0474	L	0.47716	1.5	0.80722	D	1	P;D	0.89917	0.94;1.0	P;D	0.64042	0.459;0.921	T	0.00048	-1.2204	10	0.87932	D	0	-6.3314	19.2882	0.94087	0.0:0.0:1.0:0.0	.	98;98	Q6PG48;Q6UB98	.;ANR12_HUMAN	M	98	ENSP00000262126:R98M	ENSP00000262126:R98M	R	+	2	0	ANKRD12	9194531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.709000	0.91379	2.664000	0.90586	0.655000	0.94253	AGG			0.363	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254478.2		NM_015208	
TNPO2	30000	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	12816532	12816532	+	Silent	SNP	G	G	C			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:12816532G>C	ENST00000592287.1	-	15	1827	c.1719C>G	c.(1717-1719)ctC>ctG	p.L573L	TNPO2_ENST00000450764.2_Silent_p.L573L|TNPO2_ENST00000588216.1_Silent_p.L573L|TNPO2_ENST00000425528.1_Silent_p.L573L|TNPO2_ENST00000441499.1_Silent_p.L573L|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000356861.5_Silent_p.L573L	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	573					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCGTCCTTGAGCTCATTCC	0.617																																					p.L573L													.	TNPO2	108		0			c.C1719G												33.0	35.0	34.0					19																	12816532		2105	4177	6282	SO:0001819	synonymous_variant	30000	exon15			GTCCTTGAGCTCA	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1719C>G	19.37:g.12816532G>C			97	0.0103092784	1		78	0.09	7	NM_013433	128	0.13	16	O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	CCDS45991.1																																																																																					0.617	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000450785.1		NM_013433	
ILVBL	10994	mdanderson.org	37	19	15233976	15233976	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:15233976G>A	ENST00000263383.3	-	4	555	c.416C>T	c.(415-417)gCt>gTt	p.A139V	ILVBL_ENST00000534378.1_Missense_Mutation_p.A32V|AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	139						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGGGGACTGAGCCATCTGAGC	0.647																																					p.A139V													.	.			0			c.C416T												90.0	89.0	89.0					19																	15233976		2203	4300	6503	SO:0001583	missense	10994	exon4			GACTGAGCCATCT	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.416C>T	19.37:g.15233976G>A	ENSP00000263383:p.Ala139Val		55	0	0		29	0.10	3	NM_006844	36	0.00	0	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257338	0.59321	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.33216	1.42	4.52	3.46	0.39613	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.103230	0.64402	D	0.000003	T	0.61837	0.2379	M	0.92604	3.325	0.51012	D	0.999904	D	0.89917	1.0	D	0.97110	1.0	T	0.67879	-0.5556	10	0.44086	T	0.13	-14.4499	12.297	0.54854	0.0:0.1725:0.8275:0.0	.	139	A1L0T0	ILVBL_HUMAN	V	139	ENSP00000263383:A139V	ENSP00000263383:A139V	A	-	2	0	ILVBL	15094976	1.000000	0.71417	0.771000	0.31576	0.148000	0.21650	9.374000	0.97172	0.892000	0.36259	0.462000	0.41574	GCT			0.647	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385439.1		NM_006844	
CTC-260E6.6	0	broad.mit.edu	37	19	20262850	20262850	+	RNA	DEL	T	T	-			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:20262850delT	ENST00000590606.1	-	0	0				CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA																							TTCttttttcttttttttttt	0.468																																					.													.	.			0			.																																											0	.			TTTTTCTTTTTTT																													19.37:g.20262850delT			9	0	0		7	0.43	3	.	0		0		RNA	DEL	ENST00000590606.1	37																																																																																						0.468	CTC-260E6.6-005	KNOWN	basic	antisense	antisense		OTTHUMT00000452859.1			
ATP4A	495	mdanderson.org	37	19	36041523	36041523	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:36041523G>T	ENST00000262623.3	-	22	3130	c.3102C>A	c.(3100-3102)taC>taA	p.Y1034*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	1034					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCCTCTAATAGTAGAGTTCCT	0.607																																					p.Y1034X													.	.			0			c.C3102A												60.0	56.0	58.0					19																	36041523		2203	4300	6503	SO:0001587	stop_gained	495	exon22			CTAATAGTAGAGT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.3102C>A	19.37:g.36041523G>T	ENSP00000262623:p.Tyr1034*		60	0	0		32	0.09	3	NM_000704	2	0.00	0	O00738	Nonsense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	38	6.938771	0.97948	.	.	ENSG00000105675	ENST00000262623	.	.	.	4.94	0.32	0.15878	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.20703	N	0.999867	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1948	0.31389	0.3733:0.0:0.6267:0.0	.	.	.	.	X	1034	.	ENSP00000262623:Y1034X	Y	-	3	2	ATP4A	40733363	1.000000	0.71417	0.996000	0.52242	0.835000	0.47333	1.535000	0.36061	0.283000	0.22279	0.486000	0.48141	TAC			0.607	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109470.2		NM_000704	
IGFLR1	79713	mdanderson.org	37	19	36230690	36230690	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:36230690G>T	ENST00000592537.1	-	4	742	c.642C>A	c.(640-642)tcC>tcA	p.S214S	IGFLR1_ENST00000246532.1_Silent_p.S214S|IGFLR1_ENST00000588992.1_Intron|AD000671.6_ENST00000589807.1_3'UTR|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000587101.1_5'Flank			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						ACAGATGCGAGGAGGAAGGGG	0.617																																					p.S214S													.	.			0			c.C642A												82.0	91.0	88.0					19																	36230690		2203	4300	6503	SO:0001819	synonymous_variant	79713	exon4			ATGCGAGGAGGAA	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.642C>A	19.37:g.36230690G>T			62	0	0		45	0.07	3	NM_024660	101	0.00	0	Q8N5X0	Silent	SNP	ENST00000592537.1	37	CCDS12472.1																																																																																					0.617	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459077.1		NM_024660	
PRR19	284338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	42814216	42814216	+	Silent	SNP	C	C	G			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:42814216C>G	ENST00000499536.2	+	1	1291	c.480C>G	c.(478-480)gcC>gcG	p.A160A	PRR19_ENST00000598490.1_Silent_p.A160A|PRR19_ENST00000341747.3_Silent_p.A160A			A6NJB7	PRR19_HUMAN	proline rich 19	160										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGCCACAGGCCTTCCCCCGGA	0.637																																					p.A160A													.	.			0			c.C480G												49.0	49.0	49.0					19																	42814216		2203	4300	6503	SO:0001819	synonymous_variant	284338	exon2			ACAGGCCTTCCCC	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.480C>G	19.37:g.42814216C>G			77	0	0		38	0.13	5	NM_199285	15	0.20	3	A8K663|B3KW48|Q6P584	Silent	SNP	ENST00000499536.2	37	CCDS33036.1																																																																																					0.637	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463735.1		NM_199285	
PPP1R12C	54776	mdanderson.org	37	19	55606890	55606890	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:55606890G>A	ENST00000263433.3	-	10	1324	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R363W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R437W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCGCTGTCCGCCTTTCAGGG	0.672																																					p.R437W													.	.			0			c.C1309T												9.0	12.0	11.0					19																	55606890		2189	4289	6478	SO:0001583	missense	54776	exon10			CTGTCCGCCTTTC	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1309C>T	19.37:g.55606890G>A	ENSP00000263433:p.Arg437Trp		104	0	0		76	0.05	4	NM_017607	180	0.00	0		Missense_Mutation	SNP	ENST00000263433.3	37	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	G	5.002	0.186081	0.09495	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.68765	-0.19;-0.19;-0.35	3.95	-2.87	0.05700	.	1.643890	0.03568	N	0.228085	T	0.48909	0.1526	N	0.21448	0.665	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37407	-0.9707	10	0.56958	D	0.05	.	3.7467	0.08551	0.4825:0.0:0.3344:0.1831	.	363;436;437	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	W	437;437;363	ENSP00000263433:R437W;ENSP00000365573:R437W;ENSP00000387833:R363W	ENSP00000263433:R437W	R	-	1	2	PPP1R12C	60298702	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.016000	0.13377	-0.284000	0.09102	-0.275000	0.10095	CGG			0.672	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451814.2		NM_017607	
ZNF628	89887	mdanderson.org	37	19	55995439	55995439	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:55995439G>T	ENST00000598519.1	+	3	3432	c.2879G>T	c.(2878-2880)gGg>gTg	p.G960V	ZNF628_ENST00000391718.2_Missense_Mutation_p.G956V|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	960					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTTCCTCCTGGGCTGACGGAG	0.647																																					p.G960V													.	.			0			c.G2879T												32.0	20.0	24.0					19																	55995439		2196	4287	6483	SO:0001583	missense	89887	exon3			CTCCTGGGCTGAC	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2879G>T	19.37:g.55995439G>T	ENSP00000469591:p.Gly960Val		44	0	0		37	0.08	3	NM_033113	29	0.00	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	6.943	0.543757	0.13312	.	.	ENSG00000197483	ENST00000391718	T	0.08458	3.09	3.84	2.78	0.32641	.	0.338736	0.21579	U	0.072269	T	0.08492	0.0211	N	0.19112	0.55	0.09310	N	0.999992	D	0.59357	0.985	P	0.51974	0.686	T	0.11941	-1.0567	10	0.87932	D	0	-12.8686	6.6513	0.22963	0.1344:0.0:0.8656:0.0	.	956	Q5EBL2	ZN628_HUMAN	V	956	ENSP00000375598:G956V	ENSP00000375598:G956V	G	+	2	0	ZNF628	60687251	0.269000	0.24143	0.040000	0.18447	0.160000	0.22226	0.687000	0.25407	1.873000	0.54277	0.289000	0.19496	GGG			0.647	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317934.2		XM_058964	
ZNF814	730051	bcgsc.ca	37	19	58385788	58385788	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	324					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						CCACATTCATAAGGTCTTTTC	0.358																																					p.Y324H													.	ZNF814	93		0			c.T970C												15.0	12.0	13.0					19																	58385788		688	1564	2252	SO:0001583	missense	730051	exon3			ATTCATAAGGTCT		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.970T>C	19.37:g.58385788A>G	ENSP00000410545:p.Tyr324His		103	0	0		118	0.07	8	NM_001144989	8	0.00	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.644	0.896732	0.17686	.	.	ENSG00000204514	ENST00000435989	T	0.21734	1.99	2.27	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.33485	1.01	0.09310	N	1	B	0.27498	0.18	B	0.22386	0.039	T	0.24368	-1.0162	9	0.72032	D	0.01	.	7.1587	0.25652	0.6135:0.0:0.3865:0.0	.	324	B7Z6K7	ZN814_HUMAN	H	324	ENSP00000410545:Y324H	ENSP00000410545:Y324H	Y	-	1	0	ZNF814	63077600	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	0.130000	0.15850	-0.181000	0.10619	0.113000	0.15668	TAT			0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708	
TAF1B	9014	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	10059215	10059215	+	Silent	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr2:10059215C>T	ENST00000263663.5	+	13	1505	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	TAF1B_ENST00000396242.3_Silent_p.D184D	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	439					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATTTGTCGACAAACCAGTAG	0.363																																					p.D439D													.	.			0			c.C1317T												104.0	105.0	105.0					2																	10059215		2203	4300	6503	SO:0001819	synonymous_variant	9014	exon13			TGTCGACAAACCA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1317C>T	2.37:g.10059215C>T			74	0	0		85	0.11	9	NM_005680	69	0.22	15	B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	37	CCDS33143.1																																																																																					0.363	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323426.2		NM_005680	
NPAS2	4862	mdanderson.org	37	2	101598761	101598761	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr2:101598761G>T	ENST00000335681.5	+	16	1836	c.1551G>T	c.(1549-1551)caG>caT	p.Q517H	NPAS2_ENST00000542504.1_Missense_Mutation_p.Q582H	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	517					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGATCCTGCAGGCCAATATCC	0.562																																					p.Q517H													.	.			0			c.G1551T												76.0	69.0	71.0					2																	101598761		2203	4300	6503	SO:0001583	missense	4862	exon16			CCTGCAGGCCAAT	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1551G>T	2.37:g.101598761G>T	ENSP00000338283:p.Gln517His		42	0	0		42	0.07	3	NM_002518	4	0.00	0	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.33|19.33	3.807666|3.807666	0.70797|0.70797	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000433408|ENST00000335681;ENST00000542504;ENST00000450763	.|T;T;T	.|0.46819	.|2.95;2.9;0.86	5.56|5.56	1.28|1.28	0.21552|0.21552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62527|0.62527	0.2435|0.2435	M|M	0.72894|0.72894	2.215|2.215	0.49798|0.49798	D|D	0.999821|0.999821	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.79784	.|0.993;0.957;0.984	T|T	0.62124|0.62124	-0.6920|-0.6920	5|10	.|0.87932	.|D	.|0	.|.	9.5125|9.5125	0.39085|0.39085	0.3918:0.0:0.6082:0.0|0.3918:0.0:0.6082:0.0	.|.	.|582;517;517	.|F5H027;A0PJF9;Q99743	.|.;.;NPAS2_HUMAN	C|H	16|517;582;116	.|ENSP00000338283:Q517H;ENSP00000438428:Q582H;ENSP00000392125:Q116H	.|ENSP00000338283:Q517H	G|Q	+|+	1|3	0|2	NPAS2|NPAS2	100965193|100965193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.671000|0.671000	0.25172|0.25172	0.182000|0.182000	0.20032|0.20032	0.655000|0.655000	0.94253|0.94253	GGC|CAG			0.562	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000253168.3			
SMPD4	55627	mdanderson.org	37	2	130910946	130910946	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr2:130910946G>T	ENST00000409031.1	-	18	3236	c.2088C>A	c.(2086-2088)ccC>ccA	p.P696P	SMPD4_ENST00000443958.2_Silent_p.P360P|SMPD4_ENST00000452225.2_Silent_p.P437P|SMPD4_ENST00000453750.1_Silent_p.P445P|SMPD4_ENST00000431183.2_Silent_p.P594P|SMPD4_ENST00000351288.6_Silent_p.P667P|SMPD4_ENST00000339679.7_Silent_p.P554P|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000426662.2_Silent_p.P332P	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	657					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CGATGCAGTCGGGGAGTTGCT	0.627																																					p.P696P													.	.			0			c.C2088A												80.0	67.0	71.0					2																	130910946		2203	4300	6503	SO:0001819	synonymous_variant	55627	exon18			GCAGTCGGGGAGT	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2088C>A	2.37:g.130910946G>T			88	0	0		47	0.06	3	NM_017951	191	0.00	0	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	9.779	1.174894	0.21704	.	.	ENSG00000136699	ENST00000439886	.	.	.	4.09	-4.04	0.04010	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46414	-0.9193	6	0.87932	D	0	.	0.2287	0.00177	0.2885:0.2182:0.2692:0.2241	.	.	.	.	Q	571	.	ENSP00000401648:P571Q	P	-	2	0	SMPD4	130627416	0.086000	0.21541	0.997000	0.53966	0.788000	0.44548	-0.951000	0.03885	-0.217000	0.10033	-0.424000	0.05967	CCG			0.627	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254516.3		NM_017751	
CSRNP3	80034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	166532964	166532964	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr2:166532964C>A	ENST00000342316.4	+	4	823	c.551C>A	c.(550-552)gCt>gAt	p.A184D	CSRNP3_ENST00000409420.1_Missense_Mutation_p.A216D|CSRNP3_ENST00000314499.7_Missense_Mutation_p.A184D	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	184					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AAACGAAGAGCTCTGCTGCGT	0.488																																					p.A184D													.	.			0			c.C551A												167.0	170.0	169.0					2																	166532964		2203	4300	6503	SO:0001583	missense	80034	exon6			GAAGAGCTCTGCT	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.551C>A	2.37:g.166532964C>A	ENSP00000344042:p.Ala184Asp		114	0	0		113	0.19	21	NM_001172173	1	0.00	0	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428490	0.96131	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.12243	-1.0555	10	0.62326	D	0.03	-16.7587	19.3504	0.94381	0.0:1.0:0.0:0.0	.	184	Q8WYN3	CSRN3_HUMAN	D	184;191;184;184;216	ENSP00000412081:A184D;ENSP00000318258:A184D;ENSP00000344042:A184D;ENSP00000387195:A216D	ENSP00000318258:A184D	A	+	2	0	CSRNP3	166241210	1.000000	0.71417	0.958000	0.39756	0.984000	0.73092	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GCT			0.488	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255191.2		NM_024969	
CASP8	841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	202137405	202137405	+	Silent	SNP	G	G	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr2:202137405G>A	ENST00000432109.2	+	5	645	c.456G>A	c.(454-456)ctG>ctA	p.L152L	CASP8_ENST00000392266.3_Silent_p.L152L|CASP8_ENST00000323492.7_Silent_p.L152L|CASP8_ENST00000358485.4_Silent_p.L211L|CASP8_ENST00000264274.9_Silent_p.L152L|CASP8_ENST00000392259.2_Silent_p.L152L|CASP8_ENST00000264275.5_Silent_p.L184L|CASP8_ENST00000392258.3_Silent_p.L152L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	152	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.L184L(2)|p.L211L(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGGTCATCCTGGGAGAAGGAA	0.423										HNSCC(4;0.00038)																											p.L211L	Melanoma(82;831 1348 20716 36952 40159)												.	.			3	Substitution - coding silent(3)	lung(3)	c.G633A												143.0	147.0	145.0					2																	202137405		2203	4300	6503	SO:0001819	synonymous_variant	841	exon4			CATCCTGGGAGAA	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.456G>A	2.37:g.202137405G>A			89	0	0		79	0.16	13	NM_001080125	53	0.23	12	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	ENST00000432109.2	37	CCDS2342.1																																																																																					0.423	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000336853.2		NM_001228	
FRG1B	284802	hgsc.bcm.edu	37	20	29628491	29628491	+	Intron	SNP	A	A	G			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:29628491A>G	ENST00000278882.3	+	6	713				FRG1B_ENST00000358464.4_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TATAAATCCCATAGTTGATGG	0.313																																					.													.	.			0			.																																									SO:0001627	intron_variant	284802	.			AATCCCATAGTTG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.333+160A>G	20.37:g.29628491A>G			67	0	0		56	0.09	5	.	4	0.00	0	C4AME5	RNA	SNP	ENST00000278882.3	37																																																																																						0.313	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000078494.2		NR_003579	
SOGA1	140710	bcgsc.ca	37	20	35422416	35422416	+	Missense_Mutation	SNP	G	G	T	rs377708865		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:35422416G>T	ENST00000357779.3	-	14	3681	c.3355C>A	c.(3355-3357)Cgc>Agc	p.R1119S	SOGA1_ENST00000456801.2_Missense_Mutation_p.R960S|SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000237536.4_Missense_Mutation_p.R1357S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1119					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GAGCCGGAGCGCATGGCCTGG	0.622																																					p.R1357S													.	SOGA1	136		0			c.C4069A												82.0	65.0	70.0					20																	35422416		692	1591	2283	SO:0001583	missense	140710	exon14			CGGAGCGCATGGC	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.3355C>A	20.37:g.35422416G>T	ENSP00000350424:p.Arg1119Ser		100	0	0		55	0.07	4	NM_080627	16	0.00	0	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.139049	0.77775	.	.	ENSG00000149639	ENST00000237536;ENST00000456801;ENST00000357779	T;T;T	0.27557	1.66;1.66;1.66	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.68952	2.095	0.80722	D	1	.	.	.	.	.	.	T	0.31052	-0.9957	8	0.34782	T	0.22	-28.9008	17.5377	0.87837	0.0:0.0:1.0:0.0	.	.	.	.	S	1357;960;1119	ENSP00000237536:R1357S;ENSP00000413886:R960S;ENSP00000350424:R1119S	ENSP00000237536:R1357S	R	-	1	0	KIAA0889	34855830	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.808000	0.86044	2.671000	0.90904	0.655000	0.94253	CGC			0.622	SOGA1-201	KNOWN	basic	protein_coding	protein_coding				NM_199181	
STK4	6789	mdanderson.org	37	20	43703740	43703740	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:43703740C>T	ENST00000372806.3	+	11	1482	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	STK4_ENST00000499879.2_Missense_Mutation_p.R408W|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	463	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGAAGAGATCCGGCAGAAGTA	0.552																																					p.R463W	GBM(187;1039 2137 11798 21916 33213)												STK4,rectum,carcinoma,0,3	STK4	0	3	0			c.C1387T												55.0	53.0	54.0					20																	43703740		2203	4300	6503	SO:0001583	missense	6789	exon11			GAGATCCGGCAGA		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1387C>T	20.37:g.43703740C>T	ENSP00000361892:p.Arg463Trp		71	0	0		51	0.06	3	NM_006282	14	0.00	0	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732431	0.89482	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.76448	-1.02;-0.07	5.99	5.05	0.67936	SARAH domain (1);SARAH (1);	0.063318	0.64402	D	0.000005	D	0.86777	0.6014	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.977	D	0.87504	0.2435	10	0.87932	D	0	.	14.6609	0.68870	0.0:0.9309:0.0:0.0691	.	408;463	F5H5B4;Q13043	.;STK4_HUMAN	W	463;408	ENSP00000361892:R463W;ENSP00000443514:R408W	ENSP00000361892:R463W	R	+	1	2	STK4	43137154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.570000	0.60872	2.847000	0.97988	0.655000	0.94253	CGG			0.552	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080401.4		NM_006282	
ZNF217	7764	bcgsc.ca	37	20	52192819	52192819	+	Silent	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:52192819C>T	ENST00000371471.2	-	4	2909	c.2484G>A	c.(2482-2484)ggG>ggA	p.G828G	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.G828G			O75362	ZN217_HUMAN	zinc finger protein 217	828					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCCCTTGGACCCCCACATTCT	0.542																																					p.G828G													.	ZNF217	227		0			c.G2484A												73.0	81.0	79.0					20																	52192819		2203	4300	6503	SO:0001819	synonymous_variant	7764	exon3			TTGGACCCCCACA	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2484G>A	20.37:g.52192819C>T			64	0	0		53	0.08	4	NM_006526	164	0.00	0	E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																					0.542	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079757.2		NM_006526	
PMEPA1	56937	mdanderson.org	37	20	56227187	56227187	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:56227187G>T	ENST00000341744.3	-	4	1105	c.786C>A	c.(784-786)caC>caA	p.H262Q	PMEPA1_ENST00000265626.4_Missense_Mutation_p.H212Q|PMEPA1_ENST00000395814.1_Missense_Mutation_p.H212Q|PMEPA1_ENST00000347215.4_Missense_Mutation_p.H227Q|PMEPA1_ENST00000395816.3_Missense_Mutation_p.H212Q	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	262					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGTGTGTGTGGTGGAGCCGGG	0.657																																					p.H262Q													.	.			0			c.C786A												21.0	23.0	22.0					20																	56227187		2198	4296	6494	SO:0001583	missense	56937	exon4			TGTGTGGTGGAGC	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.786C>A	20.37:g.56227187G>T	ENSP00000345826:p.His262Gln		42	0	0		22	0.14	3	NM_020182	32	0.00	0	Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.629714	0.00813	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814	T;T;T;T;T	0.40756	1.02;1.03;1.03;1.03;1.03	5.47	-6.78	0.01721	.	0.440977	0.24530	N	0.037725	T	0.13157	0.0319	N	0.11201	0.11	0.09310	N	0.999998	B;B	0.11235	0.0;0.004	B;B	0.10450	0.002;0.005	T	0.34104	-0.9842	10	0.05436	T	0.98	-13.9497	6.3436	0.21337	0.2287:0.5066:0.1791:0.0856	.	227;262	Q5JY37;Q969W9	.;PMEPA_HUMAN	Q	262;227;212;212;212	ENSP00000345826:H262Q;ENSP00000344014:H227Q;ENSP00000379161:H212Q;ENSP00000265626:H212Q;ENSP00000379159:H212Q	ENSP00000265626:H212Q	H	-	3	2	PMEPA1	55660593	0.001000	0.12720	0.001000	0.08648	0.057000	0.15508	-1.415000	0.02469	-1.431000	0.01982	-0.885000	0.02943	CAC			0.657	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079858.2		NM_020182	
LAMA5	3911	mdanderson.org	37	20	60889717	60889717	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:60889717G>A	ENST00000252999.3	-	61	8327	c.8261C>T	c.(8260-8262)gCc>gTc	p.A2754V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2754	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGCAAGGTCGGCAAGATCCCG	0.642																																					p.A2754V													.	.			0			c.C8261T												78.0	84.0	82.0					20																	60889717		2201	4300	6501	SO:0001583	missense	3911	exon61			AGGTCGGCAAGAT	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8261C>T	20.37:g.60889717G>A	ENSP00000252999:p.Ala2754Val		41	0	0		20	0.10	2	NM_005560	115	0.00	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	14.91	2.676680	0.47886	.	.	ENSG00000130702	ENST00000252999	T	0.45276	0.9	3.65	-0.499	0.12015	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin II (1);	0.602897	0.16266	U	0.222033	T	0.30603	0.0770	L	0.48642	1.525	0.18873	N	0.999981	B	0.34181	0.44	B	0.35413	0.202	T	0.14615	-1.0466	10	0.33940	T	0.23	.	6.1285	0.20192	0.0:0.2439:0.4751:0.281	.	2754	O15230	LAMA5_HUMAN	V	2754	ENSP00000252999:A2754V	ENSP00000252999:A2754V	A	-	2	0	LAMA5	60323112	0.006000	0.16342	0.153000	0.22517	0.913000	0.54294	1.552000	0.36244	0.031000	0.15407	0.457000	0.33378	GCC			0.642	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560	
COL9A3	1299	mdanderson.org	37	20	61468455	61468455	+	Missense_Mutation	SNP	G	G	T	rs190167637		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:61468455G>T	ENST00000343916.3	+	30	1627	c.1624G>T	c.(1624-1626)Gcg>Tcg	p.A542S	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	542	Nonhelical region 3 (NC3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					ACAGTTAGCCGCGCACCTAAG	0.557																																					p.A542S													.	.			0			c.G1624T												154.0	178.0	170.0					20																	61468455		2203	4300	6503	SO:0001583	missense	1299	exon30			TTAGCCGCGCACC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1624G>T	20.37:g.61468455G>T	ENSP00000341640:p.Ala542Ser		26	0	0		24	0.13	3	NM_001853	32	0.00	0	Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286243	0.40494	.	.	ENSG00000092758	ENST00000343916	D	0.94280	-3.39	4.8	1.68	0.24146	.	0.109667	0.64402	D	0.000009	D	0.88358	0.6415	L	0.37561	1.115	0.44424	D	0.997347	P;P	0.46706	0.861;0.883	B;B	0.39738	0.293;0.308	D	0.83986	0.0335	10	0.49607	T	0.09	.	12.851	0.57858	0.2069:0.0:0.7931:0.0	.	45;542	Q9BT15;Q14050	.;CO9A3_HUMAN	S	542	ENSP00000341640:A542S	ENSP00000341640:A542S	A	+	1	0	COL9A3	60938900	1.000000	0.71417	0.028000	0.17463	0.213000	0.24496	5.221000	0.65272	-0.129000	0.11620	-1.134000	0.01955	GCG			0.557	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080071.2		NM_001853	
RUNX1	861	broad.mit.edu;ucsc.edu;mdanderson.org	37	21	36164782	36164782	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr21:36164782C>T	ENST00000344691.4	-	6	2589	c.1012G>A	c.(1012-1014)Ggc>Agc	p.G338S	RUNX1_ENST00000325074.5_Missense_Mutation_p.G353S|RUNX1_ENST00000300305.3_Missense_Mutation_p.G365S|RUNX1_ENST00000437180.1_Missense_Mutation_p.G365S|RUNX1_ENST00000399240.1_Missense_Mutation_p.G274S	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	338	Interaction with KAT6A.|Interaction with KAT6B. {ECO:0000250}.|Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.I364fs*114(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						ATGCCGATGCCGATGCCCGAG	0.716			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																p.G365S				Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	.	RUNX1	687		1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	c.G1093A												16.0	16.0	16.0					21																	36164782		2191	4291	6482	SO:0001583	missense	861	exon9			CGATGCCGATGCC	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.1012G>A	21.37:g.36164782C>T	ENSP00000340690:p.Gly338Ser		60	0	0		24	0.13	3	NM_001754	26	0.31	8	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507647	0.44558	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	D;D;D;D;D	0.97303	-4.14;-4.14;-4.14;-4.13;-4.33	5.12	5.12	0.69794	.	0.235594	0.42172	D	0.000760	D	0.95806	0.8635	L	0.37800	1.135	0.80722	D	1	D;D;P	0.69078	0.996;0.997;0.458	P;P;B	0.55055	0.752;0.767;0.043	D	0.93576	0.6908	10	0.02654	T	1	-9.99	18.1464	0.89656	0.0:1.0:0.0:0.0	.	365;353;338	Q01196-8;Q01196-10;Q01196	.;.;RUNX1_HUMAN	S	338;365;365;353;274;99;341	ENSP00000340690:G338S;ENSP00000300305:G365S;ENSP00000409227:G365S;ENSP00000319459:G353S;ENSP00000382184:G274S	ENSP00000300305:G365S	G	-	1	0	RUNX1	35086652	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.464000	0.66719	2.383000	0.81215	0.563000	0.77884	GGC			0.716	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000194230.1			
KRTAP10-3	386682	mdanderson.org	37	21	45978322	45978322	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr21:45978322A>G	ENST00000391620.1	-	1	321	c.277T>C	c.(277-279)Tcc>Ccc	p.S93P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	93	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						tggcagggggaggatgtgcag	0.667																																					p.S93P													.	.			0			c.T277C												102.0	98.0	99.0					21																	45978322		2203	4300	6503	SO:0001583	missense	386682	exon1			AGGGGGAGGATGT	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.277T>C	21.37:g.45978322A>G	ENSP00000375478:p.Ser93Pro		21	0.1428571429	3		20	0.20	4	NM_198696	0		0	A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	a	8.733	0.917149	0.17982	.	.	ENSG00000212935	ENST00000391620	T	0.01584	4.75	3.43	2.21	0.28008	.	.	.	.	.	T	0.07324	0.0185	M	0.90870	3.155	0.09310	N	1	D	0.55385	0.971	P	0.52217	0.693	T	0.14699	-1.0463	9	0.51188	T	0.08	.	6.0553	0.19809	0.5791:0.0:0.0:0.4209	.	93	P60369	KR103_HUMAN	P	93	ENSP00000375478:S93P	ENSP00000375478:S93P	S	-	1	0	KRTAP10-3	44802750	0.046000	0.20272	0.017000	0.16124	0.518000	0.34316	0.151000	0.16283	0.477000	0.27464	0.414000	0.27820	TCC			0.667	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128031.1			
TPTEP1	387590	broad.mit.edu	37	22	17118309	17118309	+	lincRNA	DEL	A	A	-	rs34054416		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr22:17118309delA	ENST00000426585.1	+	0	280									transmembrane phosphatase with tensin homology pseudogene 1																		gactccatgtaaaaaaaaaaa	0.353																																					.													.	.			0			.																																											0	.			CCATGTAAAAAAA			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17118309delA			6	0	0		12	0.33	4	.	0		0		RNA	DEL	ENST00000426585.1	37																																																																																						0.353	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000280575.1		NR_001591	
ARVCF	421	mdanderson.org	37	22	19965526	19965526	+	Silent	SNP	C	C	T	rs373349214		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr22:19965526C>T	ENST00000263207.3	-	8	1944	c.1653G>A	c.(1651-1653)ctG>ctA	p.L551L	ARVCF_ENST00000401994.1_Silent_p.L488L|ARVCF_ENST00000406522.1_Silent_p.L488L|ARVCF_ENST00000344269.3_Silent_p.L488L|ARVCF_ENST00000406259.1_Silent_p.L551L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	551					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCAGGGCATGCAGGAGCGCGT	0.647																																					p.L551L													.	.			0			c.G1653A												58.0	50.0	53.0					22																	19965526		2203	4299	6502	SO:0001819	synonymous_variant	421	exon8			GGCATGCAGGAGC		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1653G>A	22.37:g.19965526C>T			66	0	0		43	0.07	3	NM_001670	22	0.00	0	B7WNV2	Silent	SNP	ENST00000263207.3	37	CCDS13771.1																																																																																					0.647	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000075314.5		NM_001670	
OGG1	4968	mdanderson.org	37	3	9792839	9792839	+	Silent	SNP	G	G	T	rs370483342		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:9792839G>T	ENST00000344629.7	+	2	691	c.348G>T	c.(346-348)gtG>gtT	p.V116V	OGG1_ENST00000302003.7_Silent_p.V116V|OGG1_ENST00000383826.5_Silent_p.V116V|OGG1_ENST00000449570.2_Silent_p.V116V|OGG1_ENST00000339511.5_Silent_p.V116V|OGG1_ENST00000302036.7_Silent_p.V116V|OGG1_ENST00000302008.8_Silent_p.V116V|OGG1_ENST00000349503.5_Silent_p.V116V			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	116					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GGGGTTCCGTGGACTCCCACT	0.557								Base excision repair (BER), DNA glycosylases																													p.V116V													.	.			0			c.G348T												69.0	60.0	63.0					3																	9792839		2203	4300	6503	SO:0001819	synonymous_variant	4968	exon2			TTCCGTGGACTCC	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.348G>T	3.37:g.9792839G>T			160	0	0		113	0.04	5	NM_016821	42	0.00	0	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.03|10.03	1.237768|1.237768	0.22711|0.22711	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000352937|ENST00000426518	.|.	.|.	.|.	5.54|5.54	0.365|0.365	0.16131|0.16131	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42131	.|0.1189	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26258	.|-1.0108	.|4	.|.	.|.	.|.	-4.8451|-4.8451	1.6847|1.6847	0.02839|0.02839	0.3575:0.219:0.3131:0.1104|0.3575:0.219:0.3131:0.1104	.|.	.|.	.|.	.|.	X|L	22|26	.|.	.|.	G|W	+|+	1|2	0|0	OGG1|OGG1	9767839|9767839	0.995000|0.995000	0.38212|0.38212	0.551000|0.551000	0.28230|0.28230	0.992000|0.992000	0.81027|0.81027	0.414000|0.414000	0.21164|0.21164	0.288000|0.288000	0.22398|0.22398	0.655000|0.655000	0.94253|0.94253	GGA|TGG			0.557	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214223.2		NM_016821	
TUSC2	11334	mdanderson.org	37	3	50368037	50368037	+	5'Flank	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:50368037G>T	ENST00000232496.4	-	0	0				RASSF1_ENST00000395126.3_Missense_Mutation_p.A182D|RASSF1_ENST00000327761.3_Missense_Mutation_p.A263D|RASSF1_ENST00000359365.4_Missense_Mutation_p.A333D|RASSF1_ENST00000357043.2_Missense_Mutation_p.A337D|TUSC2_ENST00000462137.1_5'Flank	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2						cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGCGTGCAGGGCCTCTTGGAT	0.607																																					p.A337D													.	.			0			c.C1010A												97.0	95.0	95.0					3																	50368037		2203	4300	6503	SO:0001631	upstream_gene_variant	11186	exon6			TGCAGGGCCTCTT	AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"""PDGFA associated protein 2"""	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877		3.37:g.50368037G>T	Exception_encountered		54	0.0185185185	1		32	0.09	3	NM_170714	69	0.00	0	B2R4Y9	Missense_Mutation	SNP	ENST00000232496.4	37	CCDS2819.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875849	0.91664	.	.	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.78707	2.58;2.15;-1.2;-1.2	5.49	5.49	0.81192	SARAH (1);	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.992;0.999;0.957	D	0.88946	0.3383	10	0.54805	T	0.06	-27.1132	18.3174	0.90226	0.0:0.0:1.0:0.0	.	333;337;263	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	D	263;182;337;333	ENSP00000333327:A263D;ENSP00000378558:A182D;ENSP00000349547:A337D;ENSP00000352323:A333D	ENSP00000333327:A263D	A	-	2	0	RASSF1	50343041	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.602000	0.98312	2.735000	0.93741	0.563000	0.77884	GCC			0.607	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346399.1		NM_007275	
FHIT	2272	mdanderson.org	37	3	59908140	59908140	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:59908140G>T	ENST00000468189.1	-	8	650	c.280C>A	c.(280-282)Cac>Aac	p.H94N	FHIT_ENST00000476844.1_Splice_Site_p.H94N|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000341848.4_Splice_Site_p.H94N|FHIT_ENST00000492590.1_Splice_Site_p.H94N			P49789	FHIT_HUMAN	fragile histidine triad	94	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		ACGTGAACGTGCTGAAAATGT	0.418			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																												p.H94N				Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	.	.			0			c.C280A												115.0	102.0	106.0					3																	59908140		2203	4300	6503	SO:0001630	splice_region_variant	2272	exon8	Familial Cancer Database		GAACGTGCTGAAA	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.280-1C>A	3.37:g.59908140G>T			64	0	0		53	0.06	3	NM_002012	0		0	A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	ENST00000468189.1	37	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862845	0.71949	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.6	5.6	0.85130	Histidine triad, conserved site (1);Histidine triad motif (1);Histidine triad-like motif (1);	0.105306	0.64402	D	0.000006	D	0.98359	0.9455	H	0.99169	4.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99651	1.0991	9	.	.	.	-7.945	17.3989	0.87454	0.0:0.0:1.0:0.0	.	94	P49789	FHIT_HUMAN	N	94	ENSP00000418582:H94N;ENSP00000417557:H94N;ENSP00000417480:H94N;ENSP00000342087:H94N	.	H	-	1	0	FHIT	59883180	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.390000	0.79816	2.648000	0.89879	0.655000	0.94253	CAC			0.418	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351648.1		NM_002012	Missense_Mutation
GTF2E1	2960	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	120469513	120469513	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:120469513C>G	ENST00000283875.5	+	2	207	c.114C>G	c.(112-114)atC>atG	p.I38M		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	38	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACATCTTGATCAGGAACTCCT	0.448																																					p.I38M													.	.			0			c.C114G												123.0	109.0	113.0					3																	120469513		2203	4300	6503	SO:0001583	missense	2960	exon2			CTTGATCAGGAAC	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.114C>G	3.37:g.120469513C>G	ENSP00000283875:p.Ile38Met		140	0	0		113	0.12	13	NM_005513	48	0.27	13	Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275946	0.59649	.	.	ENSG00000153767	ENST00000484715;ENST00000283875;ENST00000492959	T	0.49139	0.79	5.76	2.92	0.33932	TFIIEalpha/SarR/Rpc3 HTH domain (1);Transcription factor TFE/TFIIEalpha HTH domain (1);	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	L	0.43152	1.355	0.58432	D	0.999999	P;P	0.47191	0.891;0.891	P;P	0.54664	0.758;0.688	T	0.41840	-0.9486	10	0.51188	T	0.08	-25.1083	9.0042	0.36102	0.0:0.7494:0.0:0.2506	.	38;38	P29083;Q53F88	T2EA_HUMAN;.	M	38	ENSP00000283875:I38M	ENSP00000283875:I38M	I	+	3	3	GTF2E1	121952203	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.027000	0.41078	0.299000	0.22661	-0.145000	0.13849	ATC			0.448	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356770.1		NM_005513	
FBXO40	51725	mdanderson.org	37	3	121340831	121340831	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:121340831G>T	ENST00000338040.4	+	3	969	c.555G>T	c.(553-555)ctG>ctT	p.L185L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	185					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CACATGGTCTGTCAGCAACTA	0.517																																					p.L185L													.	.			0			c.G555T												126.0	135.0	132.0					3																	121340831		2203	4300	6503	SO:0001819	synonymous_variant	51725	exon3			TGGTCTGTCAGCA	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.555G>T	3.37:g.121340831G>T			94	0	0		75	0.05	4	NM_016298	0		0	B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	CCDS33835.1																																																																																					0.517	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355158.1		NM_016298	
ACAD9	28976	mdanderson.org	37	3	128623311	128623311	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:128623311G>T	ENST00000308982.7	+	11	1193	c.1112G>T	c.(1111-1113)gGc>gTc	p.G371V	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	371						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GACCAACCTGGCTTTCCCGAC	0.547																																					p.G371V													.	.			0			c.G1112T												67.0	60.0	62.0					3																	128623311		2203	4300	6503	SO:0001583	missense	28976	exon11			AACCTGGCTTTCC	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1112G>T	3.37:g.128623311G>T	ENSP00000312618:p.Gly371Val		53	0	0		49	0.06	3	NM_014049	42	0.00	0	D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135383	0.77662	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.97378	-4.36	5.7	4.83	0.62350	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.137638	0.64402	D	0.000003	D	0.98704	0.9565	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.962;0.999	D	0.99391	1.0925	10	0.87932	D	0	.	12.444	0.55641	0.081:0.0:0.919:0.0	.	248;371	Q9H9W4;Q9H845	.;ACAD9_HUMAN	V	371;238	ENSP00000312618:G371V	ENSP00000312618:G371V	G	+	2	0	ACAD9	130106001	1.000000	0.71417	0.086000	0.20670	0.922000	0.55478	5.783000	0.68982	1.418000	0.47098	0.655000	0.94253	GGC			0.547	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358405.1		NM_014049	
HES1	3280	broad.mit.edu;bcgsc.ca	37	3	193854208	193854208	+	Silent	SNP	G	G	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:193854208G>A	ENST00000232424.3	+	1	275	c.39G>A	c.(37-39)ccG>ccA	p.P13P		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CCTCGTCCCCGGTGGCTGCTA	0.428																																					p.P13P													.	HES1	23		0			c.G39A												38.0	38.0	38.0					3																	193854208		2203	4300	6503	SO:0001819	synonymous_variant	3280	exon1			GTCCCCGGTGGCT	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.39G>A	3.37:g.193854208G>A			293	0.0034129693	1		207	0.07	15	NM_005524	7	0.00	0	A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000232424.3	37	CCDS3305.1																																																																																					0.428	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342632.1			
AFAP1	60312	mdanderson.org	37	4	7787938	7787938	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr4:7787938G>T	ENST00000360265.4	-	11	1747	c.1513C>A	c.(1513-1515)Ccg>Acg	p.P505T	AFAP1_ENST00000382543.3_Missense_Mutation_p.P505T|AFAP1_ENST00000358461.2_Missense_Mutation_p.P505T|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000420658.1_Missense_Mutation_p.P505T			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	505						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTGATGCACGGGACATCGTCA	0.512																																					p.P505T													.	.			0			c.C1513A												104.0	100.0	101.0					4																	7787938		2203	4300	6503	SO:0001583	missense	60312	exon12			TGCACGGGACATC	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1513C>A	4.37:g.7787938G>T	ENSP00000353402:p.Pro505Thr		64	0	0		47	0.06	3	NM_001134647	23	0.00	0	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875383	0.72180	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.16457	2.38;2.34;2.38;2.34	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.78801	2.425	0.53688	D	0.999977	D;D	0.89917	1.0;0.972	D;P	0.69142	0.962;0.796	T	0.43327	-0.9398	10	0.59425	D	0.04	-38.9222	18.916	0.92506	0.0:0.0:1.0:0.0	.	505;505	E9PDT7;Q8N556	.;AFAP1_HUMAN	T	505	ENSP00000353402:P505T;ENSP00000410689:P505T;ENSP00000351245:P505T;ENSP00000371983:P505T	ENSP00000351245:P505T	P	-	1	0	AFAP1	7838838	1.000000	0.71417	0.997000	0.53966	0.736000	0.42039	6.896000	0.75665	2.462000	0.83206	0.650000	0.86243	CCG			0.512	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246842.2		NM_021638	
SHROOM3	57619	mdanderson.org	37	4	77676329	77676329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr4:77676329G>T	ENST00000296043.6	+	7	5646	c.4693G>T	c.(4693-4695)Gag>Tag	p.E1565*	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1565					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGAGGATCCCGAGGGGCCACG	0.622																																					p.E1565X													.	.			0			c.G4693T												34.0	35.0	35.0					4																	77676329		2203	4300	6503	SO:0001587	stop_gained	57619	exon7			GATCCCGAGGGGC	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4693G>T	4.37:g.77676329G>T	ENSP00000296043:p.Glu1565*		60	0	0		52	0.06	3	NM_020859	21	0.00	0	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Nonsense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	48	14.285333	0.99788	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	.	.	.	5.11	-1.73	0.08081	.	3.953870	0.00397	N	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	3.401	2.831	0.05499	0.1793:0.2552:0.4442:0.1214	.	.	.	.	X	1565;42	.	ENSP00000264907:E42X	E	+	1	0	SHROOM3	77895353	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.106000	0.15354	-0.632000	0.05553	-0.175000	0.13238	GAG			0.622	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252408.2		NM_020859	
INPP4B	8821	mdanderson.org	37	4	143129612	143129612	+	Silent	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr4:143129612C>T	ENST00000513000.1	-	15	1471	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	INPP4B_ENST00000262992.4_Silent_p.L346L|INPP4B_ENST00000509777.1_Silent_p.L346L|INPP4B_ENST00000308502.4_Silent_p.L346L|INPP4B_ENST00000508116.1_Silent_p.L346L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	346					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCATTCTTTGCAGATGTAGAT	0.333																																					p.L346L													.	.			0			c.G1038A												108.0	108.0	108.0					4																	143129612		2203	4300	6503	SO:0001819	synonymous_variant	8821	exon15			TCTTTGCAGATGT	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1038G>A	4.37:g.143129612C>T			61	0	0		46	0.07	3	NM_003866	4	0.00	0	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	CCDS3757.1																																																																																					0.333	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364587.1		NM_003866	
FAM160A1	729830	mdanderson.org	37	4	152487469	152487469	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr4:152487469G>T	ENST00000505231.1	+	2	217	c.58G>T	c.(58-60)Gtt>Ttt	p.V20F	AC097455.1_ENST00000408730.1_RNA|FAM160A1_ENST00000435205.1_Missense_Mutation_p.V20F			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	20										endometrium(2)|kidney(1)	3						CCTACAGGGAGTTGACCCAGA	0.423																																					p.V20F													.	.			0			c.G58T												120.0	113.0	115.0					4																	152487469		692	1591	2283	SO:0001583	missense	729830	exon4			CAGGGAGTTGACC		CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.58G>T	4.37:g.152487469G>T	ENSP00000421580:p.Val20Phe		58	0	0		38	0.08	3	NM_001109977	6	0.00	0	Q6ZUS2	Missense_Mutation	SNP	ENST00000505231.1	37	CCDS47146.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543040	0.86022	.	.	ENSG00000164142	ENST00000503146;ENST00000435205;ENST00000513962;ENST00000512597;ENST00000505231	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.9	5.9	0.94986	.	0.157232	0.40908	D	0.000982	T	0.49440	0.1557	L	0.59436	1.845	0.41997	D	0.99087	D	0.61080	0.989	P	0.61132	0.884	T	0.30268	-0.9984	9	.	.	.	-19.3782	17.251	0.87042	0.0:0.0:1.0:0.0	.	20	Q05DH4	F16A1_HUMAN	F	20	ENSP00000424175:V20F;ENSP00000413196:V20F;ENSP00000426677:V20F;ENSP00000421948:V20F;ENSP00000421580:V20F	.	V	+	1	0	FAM160A1	152706919	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.061000	0.76699	2.822000	0.97130	0.650000	0.86243	GTT			0.423	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365691.1		NM_001109977	
HCN1	348980	broad.mit.edu	37	5	45353277	45353277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:45353277G>T	ENST00000303230.4	-	5	1359	c.1302C>A	c.(1300-1302)taC>taA	p.Y434*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	434					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTTCATAGTAATCATGTA	0.343																																					p.Y434X													HCN1,NS,carcinoma,0,1	HCN1	298	1	0			c.C1302A												156.0	142.0	147.0					5																	45353277		2203	4297	6500	SO:0001587	stop_gained	348980	exon5			TTCATAGTAATCA	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1302C>A	5.37:g.45353277G>T	ENSP00000307342:p.Tyr434*		91	0	0		59	0.05	3	NM_021072	0		0		Nonsense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	36	5.746862	0.96882	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.97	0.155	0.14906	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8576	0.46808	0.5211:0.0:0.4789:0.0	.	.	.	.	X	434	.	ENSP00000307342:Y434X	Y	-	3	2	HCN1	45389034	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	0.593000	0.23999	-0.270000	0.09285	-0.768000	0.03414	TAC			0.343	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253847.1		NM_021072	
ATP6AP1L	92270	mdanderson.org	37	5	81614037	81614037	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:81614037C>T	ENST00000380167.4	+	10	1918	c.593C>T	c.(592-594)gCc>gTc	p.A198V	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.A198V			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	198					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CGAGACACAGCCGAAGAGAAG	0.532																																					p.A198V													.	.			0			c.C593T												56.0	62.0	60.0					5																	81614037		2203	4300	6503	SO:0001583	missense	92270	exon4			ACACAGCCGAAGA	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.593C>T	5.37:g.81614037C>T	ENSP00000369513:p.Ala198Val		62	0	0		31	0.13	4	NM_001017971	9	0.00	0		Missense_Mutation	SNP	ENST00000380167.4	37	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653030	0.14580	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.54	4.57	0.56435	.	0.406531	0.24688	N	0.036415	T	0.44932	0.1317	M	0.68317	2.08	0.09310	N	1	B	0.27700	0.186	B	0.32465	0.146	T	0.47275	-0.9130	9	0.51188	T	0.08	.	5.4761	0.16695	0.1255:0.4045:0.393:0.077	.	198	Q52LC2	VAS1L_HUMAN	V	198	.	ENSP00000369513:A198V	A	+	2	0	ATP6AP1L	81649793	0.012000	0.17670	0.002000	0.10522	0.003000	0.03518	1.779000	0.38624	1.054000	0.40438	0.563000	0.77884	GCC			0.532	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369562.3		NM_001017971	
BRD8	10902	mdanderson.org	37	5	137502367	137502367	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:137502367G>T	ENST00000254900.5	-	10	1208	c.837C>A	c.(835-837)acC>acA	p.T279T	BRD8_ENST00000230901.5_Silent_p.T352T|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000402931.1_Silent_p.T279T|BRD8_ENST00000455658.2_Silent_p.T238T|BRD8_ENST00000411594.2_Intron	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	279					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAGAGGTGTGGTGAACTGTG	0.458																																					p.T352T													.	.			0			c.C1056A												70.0	60.0	63.0					5																	137502367		2203	4300	6503	SO:0001819	synonymous_variant	10902	exon11			AGGTGTGGTGAAC	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.837C>A	5.37:g.137502367G>T			79	0	0		45	0.07	3	NM_006696	66	0.00	0	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	CCDS4198.1																																																																																					0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251282.3		NM_006696	
PCDHB13	56123	mdanderson.org	37	5	140595252	140595252	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:140595252G>T	ENST00000341948.4	+	1	1744	c.1557G>T	c.(1555-1557)ctG>ctT	p.L519L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	519	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGGTCTCTGGACTACGAGG	0.692																																					p.L519L													PCDHB13,NS,carcinoma,+1,1	PCDHB13	1	1	0			c.G1557T												86.0	93.0	91.0					5																	140595252		2203	4300	6503	SO:0001819	synonymous_variant	56123	exon1			GTCTCTGGACTAC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1557G>T	5.37:g.140595252G>T			48	0	0		38	0.08	3	NM_018933	0		0	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																					0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251810.1		NM_018933	
SCGB3A2	117156	mdanderson.org	37	5	147261032	147261032	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:147261032G>T	ENST00000296694.4	+	2	172	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	SCGB3A2_ENST00000504320.1_5'UTR|SCGB3A2_ENST00000514688.1_3'UTR|C5orf46_ENST00000510432.1_Intron	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	27						endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAACAAAGTGCCCCTTCC	0.473																																					p.V27L													.	.			0			c.G79T												189.0	186.0	187.0					5																	147261032		2203	4300	6503	SO:0001583	missense	117156	exon2			AACAAAGTGCCCC	AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"""Secretoglobins"""	18391	protein-coding gene	gene with protein product	"""uteroglobin-related protein 1"", ""pneumo secretory protein 1"", ""uteroglobin related protein 1"""	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.79G>T	5.37:g.147261032G>T	ENSP00000296694:p.Val27Leu		91	0	0		45	0.07	3	NM_054023	295	0.00	0		Missense_Mutation	SNP	ENST00000296694.4	37	CCDS4287.1	.	.	.	.	.	.	.	.	.	.	G	1.133	-0.651875	0.03506	.	.	ENSG00000164265	ENST00000296694	.	.	.	5.26	-10.5	0.00291	.	2.002980	0.02635	N	0.104764	T	0.31544	0.0800	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11446	-1.0587	8	0.30078	T	0.28	1.0E-4	14.6582	0.68850	0.0:0.1374:0.7295:0.1331	.	27	Q96PL1	SG3A2_HUMAN	L	27	.	ENSP00000296694:V27L	V	+	1	0	SCGB3A2	147241225	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.061000	0.03472	-1.907000	0.01087	-0.410000	0.06199	GTG			0.473	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251939.1		NM_054023	
HAVCR2	84868	ucsc.edu;bcgsc.ca	37	5	156535962	156535962	+	Silent	SNP	C	C	G			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:156535962C>G	ENST00000307851.4	-	1	763	c.33G>C	c.(31-33)ctG>ctC	p.L11L	HAVCR2_ENST00000522593.1_Silent_p.L11L|HAVCR2_ENST00000517358.1_5'Flank|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	11						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGCAGCAGCAGGACACAGT	0.458																																					p.L11L													.	HAVCR2	56		0			c.G33C												132.0	119.0	124.0					5																	156535962		2203	4300	6503	SO:0001819	synonymous_variant	84868	exon1			CAGCAGCAGGACA	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.33G>C	5.37:g.156535962C>G			80	0	0		39	0.10	4	NM_032782	8	0.00	0	B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	CCDS4333.1																																																																																					0.458	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252574.2			
EEF1E1	9521	hgsc.bcm.edu;bcgsc.ca	37	6	8090389	8090389	+	Intron	SNP	A	A	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr6:8090389A>T	ENST00000379715.5	-	3	441				EEF1E1_ENST00000507463.1_Missense_Mutation_p.F138L|EEF1E1_ENST00000429723.2_Intron|EEF1E1-BLOC1S5_ENST00000397456.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1						gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ACACTACAGAAAAAAAGCCAG	0.284																																					.													.	.			0			.												56.0	55.0	55.0					6																	8090389		2199	4287	6486	SO:0001627	intron_variant	0	.			TACAGAAAAAAAG	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.384+29T>A	6.37:g.8090389A>T			125	0	0		110	0.19	21	.	19	0.16	3	C9JLK5|Q5THS2	RNA	SNP	ENST00000379715.5	37	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.410603	0.25465	.	.	ENSG00000124802	ENST00000507463	.	.	.	3.36	-0.642	0.11486	.	.	.	.	.	T	0.07683	0.0193	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35992	-0.9766	4	.	.	.	.	2.3604	0.04306	0.5317:0.0:0.2549:0.2134	.	.	.	.	L	138	.	.	F	-	3	2	EEF1E1	8035388	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.356000	0.20181	-0.210000	0.10140	0.379000	0.24179	TTT			0.284	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039799.2		NM_004280	
BAG6	7917	mdanderson.org	37	6	31610631	31610631	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr6:31610631A>G	ENST00000375964.6	-	14	2241	c.1928T>C	c.(1927-1929)cTc>cCc	p.L643P	BAG6_ENST00000362049.6_Missense_Mutation_p.L637P|BAG6_ENST00000404765.2_Missense_Mutation_p.L673P|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375976.4_Missense_Mutation_p.L637P|BAG6_ENST00000211379.5_Missense_Mutation_p.L637P|BAG6_ENST00000470875.1_5'UTR	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	643	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CATGCCTTGGAGAAAGGCAGG	0.612																																					p.L643P													.	.			0			c.T1928C												35.0	28.0	30.0					6																	31610631		2203	4300	6503	SO:0001583	missense	7917	exon14			CCTTGGAGAAAGG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1928T>C	6.37:g.31610631A>G	ENSP00000365131:p.Leu643Pro		27	0	0		19	0.11	2	NM_004639	106	0.00	0	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096240	0.76870	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000362049;ENST00000437771;ENST00000438149	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.59	5.59	0.84812	.	0.236976	0.35555	N	0.003126	T	0.51261	0.1664	L	0.29908	0.895	0.80722	D	1	P;D;D	0.71674	0.946;0.998;0.997	P;D;D	0.80764	0.648;0.991;0.994	T	0.53746	-0.8395	10	0.39692	T	0.17	.	14.7844	0.69790	1.0:0.0:0.0:0.0	.	637;643;637	F8VXY4;P46379;P46379-2	.;BAG6_HUMAN;.	P	637;643;637;673;637;673;231	ENSP00000365143:L637P;ENSP00000365131:L643P;ENSP00000211379:L637P;ENSP00000384494:L673P;ENSP00000354875:L637P;ENSP00000397978:L673P;ENSP00000410280:L231P	ENSP00000211379:L637P	L	-	2	0	BAG6	31718610	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.702000	0.84576	2.138000	0.66242	0.456000	0.33151	CTC			0.612	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_080703	
ZBTB9	221504	mdanderson.org	37	6	33423539	33423539	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr6:33423539A>G	ENST00000395064.2	+	2	930	c.662A>G	c.(661-663)gAt>gGt	p.D221G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						gaggaagatgatgatgatgag	0.577																																					p.D221G													.	.			0			c.A662G												63.0	61.0	62.0					6																	33423539		2203	4300	6503	SO:0001583	missense	221504	exon2			AAGATGATGATGA	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.662A>G	6.37:g.33423539A>G	ENSP00000378503:p.Asp221Gly		70	0	0		37	0.08	3	NM_152735	37	0.00	0	A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	A	7.723	0.697668	0.15106	.	.	ENSG00000213588	ENST00000395064	T	0.08282	3.11	4.53	3.32	0.38043	.	1.336890	0.05524	U	0.562627	T	0.01800	0.0057	N	0.14661	0.345	0.31192	N	0.700804	B	0.02656	0.0	B	0.04013	0.001	T	0.38735	-0.9647	10	0.21014	T	0.42	.	8.5059	0.33186	0.9024:0.0:0.0976:0.0	.	221	Q96C00	ZBTB9_HUMAN	G	221	ENSP00000378503:D221G	ENSP00000378503:D221G	D	+	2	0	ZBTB9	33531517	0.969000	0.33509	0.834000	0.33040	0.438000	0.31896	2.374000	0.44274	1.892000	0.54788	0.460000	0.39030	GAT			0.577	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276533.1		NM_152735	
MDN1	23195	mdanderson.org	37	6	90385226	90385226	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr6:90385226G>T	ENST00000369393.3	-	78	12833	c.12718C>A	c.(12718-12720)Cgg>Agg	p.R4240R	MDN1_ENST00000428876.1_Silent_p.R4240R|MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4240					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGGAGCGCCGCTGTCGGACG	0.517																																					p.R4240R													.	.			0			c.C12718A												118.0	90.0	99.0					6																	90385226		2203	4300	6503	SO:0001819	synonymous_variant	23195	exon78			AGCGCCGCTGTCG	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12718C>A	6.37:g.90385226G>T			49	0	0		33	0.09	3	NM_014611	50	0.00	0	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																					0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041514.2			
SEC63	11231	mdanderson.org	37	6	108224139	108224139	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr6:108224139G>T	ENST00000369002.4	-	12	1297	c.1118C>A	c.(1117-1119)gCc>gAc	p.A373D		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	373	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCCCTGAACGGCCATCTGAGA	0.433																																					p.A373D													.	.			0			c.C1118A												60.0	65.0	63.0					6																	108224139		2203	4297	6500	SO:0001583	missense	11231	exon12			TGAACGGCCATCT	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1118C>A	6.37:g.108224139G>T	ENSP00000357998:p.Ala373Asp		87	0	0		80	0.05	4	NM_007214	165	0.00	0	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913832	0.52439	.	.	ENSG00000025796	ENST00000369002;ENST00000437345;ENST00000423697	T	0.60171	0.21	5.2	5.2	0.72013	Sec63 domain (3);	0.336250	0.32386	N	0.006173	T	0.23094	0.0558	N	0.08118	0	0.30916	N	0.728585	B;B	0.27286	0.05;0.174	B;B	0.27380	0.079;0.062	T	0.26395	-1.0104	10	0.87932	D	0	-10.4388	13.0936	0.59178	0.0772:0.0:0.9228:0.0	.	373;373	Q9UGP8;B3KQF0	SEC63_HUMAN;.	D	373;24;233	ENSP00000357998:A373D	ENSP00000357998:A373D	A	-	2	0	SEC63	108330832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.251000	0.58778	2.417000	0.82017	0.563000	0.77884	GCC			0.433	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041705.4		NM_007214	
GLI3	2737	broad.mit.edu	37	7	42063136	42063136	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr7:42063136G>T	ENST00000395925.3	-	10	1512	c.1428C>A	c.(1426-1428)gtC>gtA	p.V476V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	476					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTCATAGATGACTTCAGGCT	0.537									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.V476V													.	GLI3	312		0			c.C1428A												171.0	129.0	143.0					7																	42063136		2203	4300	6503	SO:0001819	synonymous_variant	2737	exon10	Familial Cancer Database	;	ATAGATGACTTCA		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1428C>A	7.37:g.42063136G>T			179	0	0		161	0.03	5	NM_000168	2	0.00	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																					0.537	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250806.3		NM_000168	
SRRT	51593	mdanderson.org	37	7	100481800	100481800	+	Missense_Mutation	SNP	T	T	G	rs201173432		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr7:100481800T>G	ENST00000347433.4	+	6	855	c.697T>G	c.(697-699)Ttt>Gtt	p.F233V	SRRT_ENST00000432932.1_Missense_Mutation_p.F233V|SRRT_ENST00000457580.2_Missense_Mutation_p.F233V|SRRT_ENST00000388793.4_Missense_Mutation_p.F233V			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	233					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACTGGCTGGTTTGATAACCT	0.582																																					p.F233V													.	.			0			c.T697G												75.0	80.0	78.0					7																	100481800		2203	4300	6503	SO:0001583	missense	51593	exon6			GGCTGGTTTGATA		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.697T>G	7.37:g.100481800T>G	ENSP00000314491:p.Phe233Val		91	0.1208791209	11		80	0.16	13	NM_001128853	183	0.12	22	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.281085	0.40394	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.41710	1.295	0.58432	D	0.999997	B;B;B;B	0.33345	0.356;0.356;0.356;0.409	B;B;B;B	0.34489	0.115;0.115;0.115;0.184	T	0.46803	-0.9165	9	0.42905	T	0.14	.	9.2961	0.37815	0.0:0.0:0.0:1.0	.	233;233;233;233	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	V	233	.	ENSP00000314491:F233V	F	+	1	0	SRRT	100319736	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.549000	0.60726	1.781000	0.52344	0.260000	0.18958	TTT			0.582	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347168.1		NM_015908	
SND1	27044	mdanderson.org	37	7	127631040	127631040	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr7:127631040G>T	ENST00000354725.3	+	16	1904	c.1710G>T	c.(1708-1710)ttG>ttT	p.L570F	SND1_ENST00000467238.1_3'UTR	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	570	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TCCCAGGCTTGGTGCAGGAAG	0.527																																					p.L570F													.	.			0			c.G1710T												92.0	76.0	81.0					7																	127631040		2203	4300	6503	SO:0001583	missense	27044	exon16			AGGCTTGGTGCAG		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1710G>T	7.37:g.127631040G>T	ENSP00000346762:p.Leu570Phe		55	0	0		44	0.07	3	NM_014390	471	0.00	1	Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839154	0.32513	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T	0.30714	1.52	5.54	3.71	0.42584	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.330064	0.20211	N	0.096890	T	0.18002	0.0432	N	0.08118	0	0.38410	D	0.945902	B	0.23490	0.086	B	0.35114	0.196	T	0.09487	-1.0672	10	0.56958	D	0.05	-0.4877	5.6033	0.17365	0.1643:0.0:0.6768:0.1589	.	570	Q7KZF4	SND1_HUMAN	F	570;560;119	ENSP00000346762:L570F	ENSP00000346762:L570F	L	+	3	2	SND1	127418276	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	1.992000	0.40737	0.786000	0.33708	0.655000	0.94253	TTG			0.527	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349148.1		NM_014390	
TMEM213	155006	mdanderson.org	37	7	138487805	138487805	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr7:138487805G>T	ENST00000442682.2	+	3	468	c.315G>T	c.(313-315)ttG>ttT	p.L105F	TMEM213_ENST00000422794.2_Missense_Mutation_p.L155F|TMEM213_ENST00000458494.1_Missense_Mutation_p.L81F|TMEM213_ENST00000413208.1_Intron|TMEM213_ENST00000397602.3_Missense_Mutation_p.L104F	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	105						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CCAAGGACTTGCAAGCGTGAG	0.527																																					p.L105F													.	.			0			c.G315T												28.0	33.0	31.0					7																	138487805		2180	4280	6460	SO:0001583	missense	155006	exon3			GGACTTGCAAGCG		CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.315G>T	7.37:g.138487805G>T	ENSP00000390407:p.Leu105Phe		21	0	0		22	0.09	2	NM_001085429	0		0	A4D1R3|C9JH49|C9JX41|C9K0P0	Missense_Mutation	SNP	ENST00000442682.2	37	CCDS47722.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018517	0.35606	.	.	ENSG00000214128	ENST00000422794;ENST00000397602;ENST00000442682;ENST00000458494	.	.	.	5.55	2.63	0.31362	.	0.000000	0.28683	U	0.014498	T	0.30355	0.0762	L	0.36672	1.1	0.09310	N	1	P;P	0.50369	0.934;0.934	P;P	0.46940	0.532;0.532	T	0.09885	-1.0654	9	0.62326	D	0.03	-9.7213	6.902	0.24288	0.1542:0.0:0.7031:0.1427	.	104;105	A2RRL7-3;A2RRL7	.;TM213_HUMAN	F	155;104;105;81	.	ENSP00000380727:L104F	L	+	3	2	TMEM213	138138345	0.015000	0.18098	0.209000	0.23619	0.024000	0.10985	0.483000	0.22292	1.345000	0.45676	0.650000	0.86243	TTG			0.527	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347800.2		NM_001085429	
ADCK2	90956	mdanderson.org	37	7	140373183	140373183	+	Missense_Mutation	SNP	G	G	T	rs151015312		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr7:140373183G>T	ENST00000072869.4	+	1	231	c.53G>T	c.(52-54)tGc>tTc	p.C18F	ADCK2_ENST00000476491.1_Missense_Mutation_p.C18F	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	18						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CACCTGAGGTGCTTCGAGCTC	0.697																																					p.C18F													.	.			0			c.G53T												10.0	9.0	9.0					7																	140373183		2186	4281	6467	SO:0001583	missense	90956	exon1			TGAGGTGCTTCGA	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.53G>T	7.37:g.140373183G>T	ENSP00000072869:p.Cys18Phe		70	0	0		32	0.09	3	NM_052853	14	0.00	0	Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888424	0.33348	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.47177	0.85;0.85	3.85	2.97	0.34412	.	0.521188	0.16095	N	0.229864	T	0.30885	0.0779	L	0.29908	0.895	0.09310	N	1	P;P	0.46277	0.875;0.79	B;B	0.38562	0.276;0.276	T	0.12630	-1.0540	10	0.52906	T	0.07	-37.161	6.3547	0.21395	0.1037:0.1868:0.7095:0.0	.	18;18	C9JE15;Q7Z695	.;ADCK2_HUMAN	F	18	ENSP00000072869:C18F;ENSP00000420512:C18F	ENSP00000072869:C18F	C	+	2	0	ADCK2	140019652	0.006000	0.16342	0.001000	0.08648	0.033000	0.12548	1.736000	0.38187	0.854000	0.35336	-0.339000	0.08088	TGC			0.697	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348734.1		NM_052853	
ADAM2	2515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	39695678	39695678	+	Silent	SNP	G	G	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr8:39695678G>A	ENST00000265708.4	-	1	130	c.27C>T	c.(25-27)agC>agT	p.S9S	ADAM2_ENST00000379853.2_Silent_p.S9S|ADAM2_ENST00000521880.1_Silent_p.S9S|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Silent_p.S9S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	9					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CGCCGAGCCCGCTGAGCAGAA	0.577																																					p.S9S													ADAM2,NS,carcinoma,0,2	ADAM2	0	2	0			c.C27T												76.0	76.0	76.0					8																	39695678		2203	4300	6503	SO:0001819	synonymous_variant	2515	exon1			GAGCCCGCTGAGC	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.27C>T	8.37:g.39695678G>A			181	0	0		121	0.21	26	NM_001464	0		0	P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	CCDS34884.1																																																																																					0.577	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376926.1		NM_001464	
ASNSP4	100419423	bcgsc.ca	37	8	47609548	47609548	+	IGR	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr8:47609548G>T								None (None upstream) : RNU6-656P (133123 downstream)																							CCTGGTTTAAGATTTTACAGG	0.333																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	100419423	.			GTTTAAGATTTTA																													8.37:g.47609548G>T			30	0	0		29	0.21	6	.	0		0		RNA	SNP		37																																																																																					0	0.333										
KCNV1	27012	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	110986360	110986360	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr8:110986360G>T	ENST00000524391.1	-	2	1290	c.258C>A	c.(256-258)agC>agA	p.S86R	KCNV1_ENST00000297404.1_Missense_Mutation_p.S86R|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	86					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCTCCAGAGGGCTGGGCACGG	0.682																																					p.S86R													.	KCNV1	101		0			c.C258A												26.0	24.0	24.0					8																	110986360		2201	4297	6498	SO:0001583	missense	27012	exon1			CAGAGGGCTGGGC	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.258C>A	8.37:g.110986360G>T	ENSP00000435954:p.Ser86Arg		56	0	0		50	0.10	5	NM_014379	1	0.00	0	Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789430	0.49997	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	D;D	0.97529	-4.42;-4.42	4.95	2.14	0.27477	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.254698	0.41294	D	0.000909	D	0.94165	0.8128	L	0.31476	0.935	0.37442	D	0.914477	P	0.42827	0.791	P	0.49252	0.604	D	0.91118	0.4927	10	0.22706	T	0.39	.	8.2057	0.31454	0.2543:0.0:0.7457:0.0	.	86	Q6PIU1	KCNV1_HUMAN	R	86	ENSP00000435954:S86R;ENSP00000297404:S86R	ENSP00000297404:S86R	S	-	3	2	KCNV1	111055536	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	1.327000	0.33746	0.680000	0.31366	-0.140000	0.14226	AGC			0.682	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385525.1		NM_014379	
IFNA7	3444	ucsc.edu	37	9	21202073	21202073	+	Missense_Mutation	SNP	C	C	G	rs76903863	byFrequency	TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:21202073C>G	ENST00000239347.3	-	1	131	c.92G>C	c.(91-93)aGc>aCc	p.S31T		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	31					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATTACGCAGGCTGTGGGTCTG	0.502																																					p.S31T													.	IFNA7	24		0			c.G92C												95.0	94.0	94.0					9																	21202073		2203	4300	6503	SO:0001583	missense	3444	exon1			CGCAGGCTGTGGG		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.92G>C	9.37:g.21202073C>G	ENSP00000239347:p.Ser31Thr		114	0.0614035088	7		70	0.11	8	NM_021057	0		0	Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	C	7.904	0.734952	0.15574	.	.	ENSG00000214042	ENST00000239347	T	0.03413	3.94	3.14	-0.052	0.13824	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.925130	0.09173	N	0.838490	T	0.04952	0.0133	M	0.72576	2.205	0.09310	N	1	B	0.18968	0.032	B	0.23574	0.047	T	0.47032	-0.9148	10	0.21540	T	0.41	.	3.1528	0.06494	0.2119:0.5211:0.0:0.2669	.	31	P01567	IFNA7_HUMAN	T	31	ENSP00000239347:S31T	ENSP00000239347:S31T	S	-	2	0	IFNA7	21192073	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.746000	0.04829	0.106000	0.17784	-0.302000	0.09304	AGC			0.502	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051891.1		NM_021057	
LRRC19	64922	bcgsc.ca	37	9	26996466	26996466	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:26996466G>T	ENST00000380055.5	-	4	737	c.627C>A	c.(625-627)ccC>ccA	p.P209P	IFT74_ENST00000429045.2_Intron|LRRC19_ENST00000482770.1_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	209	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		GCAGGCTGTTGGGGTAGCTAC	0.313																																					p.P209P													.	LRRC19	24		0			c.C627A												91.0	84.0	86.0					9																	26996466		2203	4300	6503	SO:0001819	synonymous_variant	64922	exon4			GCTGTTGGGGTAG	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.627C>A	9.37:g.26996466G>T			100	0	0		62	0.06	4	NM_022901	0		0	A0AV00|B9EG91	Silent	SNP	ENST00000380055.5	37	CCDS6518.1																																																																																					0.313	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051961.2		NM_022901	
SPATA31D1	389763	broad.mit.edu	37	9	84608661	84608661	+	Silent	SNP	G	G	A	rs375859502		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:84608661G>A	ENST00000344803.2	+	4	3323	c.3276G>A	c.(3274-3276)ccG>ccA	p.P1092P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1092					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCTGCCCCCGCCACACAGCA	0.512																																					p.P1092P													FAM75D4,NS,carcinoma,+1,2	.		2	0			c.G3276A							G		1,3855		0,1,1927	44.0	46.0	46.0		3276	-2.9	0.0	9		46	0,8276		0,0,4138	no	coding-synonymous	FAM75D1	NM_001001670.2		0,1,6065	AA,AG,GG		0.0,0.0259,0.0082		1092/1577	84608661	1,12131	1928	4138	6066	SO:0001819	synonymous_variant	389763	exon4			GCCCCCGCCACAC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3276G>A	9.37:g.84608661G>A			44	0	0		34	0.09	3	NM_001001670	0		0		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																					0.512	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402325.1		NM_001001670	
NINJ1	4814	mdanderson.org	37	9	95888707	95888707	+	Silent	SNP	G	G	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:95888707G>A	ENST00000375446.4	-	2	359	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	97					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						AAGATGAGCAGCACCCCCACG	0.647																																					p.L97L													.	.			0			c.C289T												78.0	72.0	74.0					9																	95888707		2202	4300	6502	SO:0001819	synonymous_variant	4814	exon2			TGAGCAGCACCCC	U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"""nerve injury-induced protein-1"""	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.289C>T	9.37:g.95888707G>A			60	0	0		41	0.07	3	NM_004148	58	0.00	0	Q6GU89|Q8WUV5|Q9BT07	Silent	SNP	ENST00000375446.4	37	CCDS6703.1																																																																																					0.647	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053123.2		NM_004148	
CRB2	286204	mdanderson.org	37	9	126139289	126139289	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:126139289G>T	ENST00000373631.3	+	13	3807	c.3806G>T	c.(3805-3807)cGg>cTg	p.R1269L	CRB2_ENST00000373629.2_Missense_Mutation_p.R937L|DENND1A_ENST00000473039.1_5'Flank	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1269					cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTGGGGCCCGGCTGGAGATG	0.647																																					p.R1269L													.	.			0			c.G3806T												18.0	21.0	20.0					9																	126139289		2201	4295	6496	SO:0001583	missense	286204	exon13			GGGCCCGGCTGGA	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3806G>T	9.37:g.126139289G>T	ENSP00000362734:p.Arg1269Leu		75	0	0		48	0.06	3	NM_173689	3	0.00	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	35	5.413500	0.96072	.	.	ENSG00000148204	ENST00000373631;ENST00000373629	D;D	0.92199	-2.46;-2.99	5.27	5.27	0.74061	.	0.185225	0.26349	N	0.024889	D	0.96426	0.8834	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96898	0.9658	10	0.87932	D	0	.	18.8821	0.92360	0.0:0.0:1.0:0.0	.	1269	Q5IJ48	CRUM2_HUMAN	L	1269;937	ENSP00000362734:R1269L;ENSP00000362732:R937L	ENSP00000362732:R937L	R	+	2	0	CRB2	125179110	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.470000	0.97683	2.461000	0.83175	0.491000	0.48974	CGG			0.647	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053990.3		NM_173689	
CELP	1057	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs10901234|rs386739105|rs74753118|rs386739104	byFrequency	TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2				carboxyl ester lipase pseudogene																		AGGATGCCCCTGTGCCCCTCA	0.677													T|T|-|deletion	2605	0.520168	0.3169	0.6527	5008	,	,		13192	0.6647		0.5915	False		,,,				2504	0.4785				.													.	.			0			.																																											0	.			TGCCCCTGTGCCC	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962465delT			4	0	0		7	0.43	3	.	1	1.00	1		RNA	DEL	ENST00000411440.2	37																																																																																						0.677	CELP-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000339837.1		NM_001808	
CAMSAP1	157922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	138719406	138719406	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:138719406C>A	ENST00000389532.4	-	8	1134	c.1070G>T	c.(1069-1071)aGc>aTc	p.S357I	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S368I|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S79I|CAMSAP1_ENST00000483991.1_5'Flank	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	357					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGGCCGGCTGCTCTTCTGGTG	0.537																																					p.S357I													.	.			0			c.G1070T												111.0	79.0	90.0					9																	138719406		2203	4300	6503	SO:0001583	missense	157922	exon8			CGGCTGCTCTTCT	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1070G>T	9.37:g.138719406C>A	ENSP00000374183:p.Ser357Ile		37	0	0		34	0.32	11	NM_015447	14	0.79	11	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790502	0.70337	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.17370	2.31;2.28;2.31	5.11	5.11	0.69529	.	0.201112	0.53938	D	0.000046	T	0.27169	0.0666	M	0.72894	2.215	0.52501	D	0.999952	P;P	0.44429	0.698;0.835	B;P	0.45138	0.218;0.471	T	0.03651	-1.1016	10	0.87932	D	0	-2.1138	13.9112	0.63869	0.0:0.9246:0.0:0.0754	.	357;368	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	I	357;79;368	ENSP00000374183:S357I;ENSP00000312463:S79I;ENSP00000386420:S368I	ENSP00000312463:S79I	S	-	2	0	CAMSAP1	137859227	1.000000	0.71417	0.969000	0.41365	0.984000	0.73092	2.369000	0.44231	2.391000	0.81399	0.655000	0.94253	AGC			0.537	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055024.2		XM_351857	
RBM10	8241	hgsc.bcm.edu	37	X	47030570	47030672	+	Splice_Site	DEL	GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	-	rs377667483		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrX:47030570_47030672delGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	ENST00000377604.3	+	4	1087_1174	c.345_432delGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	c.(343-432)gaggaggaggaggaggatgaggaggaggaggagaaggccagtaacatcgtcatgctgaggatgctgccacaggcagccactgaggatgac>ga	p.EEEEEDEEEEEKASNIVMLRMLPQAATEDD115fs	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	115	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.A127T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GggaggaggaggaggaggaggaggatgaggaggaggaggagaaggCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCATGGCCCCGGGC	0.673																																					p.180_209del	Melanoma(171;120 2705 19495 39241)												.	RBM10	117		1	Substitution - Missense(1)	liver(1)	c.539_627del																																									SO:0001630	splice_region_variant	8241	exon4			GGAGGAGGAGGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.432+1GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT>-	X.37:g.47030570_47030672delGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT			48	0	0		30	0.00	0	NM_001204468	7	0.00	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Frame_Shift_Del	DEL	ENST00000377604.3	37	CCDS14274.1																																																																																					0.673	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056381.1		NM_005676	Frame_Shift_Del
GNL3L	54552	hgsc.bcm.edu	37	X	54578731	54578731	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrX:54578731G>T	ENST00000336470.4	+	13	1327	c.1188G>T	c.(1186-1188)aaG>aaT	p.K396N	GNL3L_ENST00000360845.2_Missense_Mutation_p.K396N	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	396					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCAGCGGGAAGATCAGCTTCT	0.502																																					p.K396N													.	.			0			c.G1188T												179.0	138.0	152.0					X																	54578731		2203	4300	6503	SO:0001583	missense	54552	exon13			CGGGAAGATCAGC	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1188G>T	X.37:g.54578731G>T	ENSP00000338573:p.Lys396Asn		119	0	0		103	0.06	6	NM_001184819	29	0.00	0		Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.215880	0.22373	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.26660	1.72;1.72	3.58	0.746	0.18365	GTP-binding protein, orthogonal bundle domain (1);	0.053473	0.64402	D	0.000004	T	0.27731	0.0682	M	0.64567	1.98	0.47819	D	0.999526	P	0.37997	0.614	B	0.43386	0.418	T	0.03945	-1.0990	10	0.66056	D	0.02	-16.4951	6.3938	0.21601	0.3772:0.0:0.6228:0.0	.	396	Q9NVN8	GNL3L_HUMAN	N	396	ENSP00000338573:K396N;ENSP00000354091:K396N	ENSP00000338573:K396N	K	+	3	2	GNL3L	54595456	1.000000	0.71417	0.997000	0.53966	0.011000	0.07611	5.107000	0.64603	0.172000	0.19760	-0.296000	0.09543	AAG			0.502	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056805.1		NM_019067	
DLG3	1741	bcgsc.ca	37	X	69665375	69665375	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrX:69665375G>T	ENST00000374360.3	+	1	557	c.324G>T	c.(322-324)gaG>gaT	p.E108D	DLG3_ENST00000194900.4_Missense_Mutation_p.E108D	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	108					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGTGGCCAGAGTGCACCTGTA	0.687																																					p.E108D													.	DLG3	100		0			c.G324T												6.0	7.0	7.0					X																	69665375		2130	4185	6315	SO:0001583	missense	1741	exon1			GCCAGAGTGCACC	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.324G>T	X.37:g.69665375G>T	ENSP00000363480:p.Glu108Asp		39	0	0		35	0.11	4	NM_021120	0		0	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	g	13.50	2.255803	0.39896	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.44881	0.91;0.91	3.84	2.96	0.34315	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);PDZ/DHR/GLGF (1);	0.000000	0.85682	U	0.000000	T	0.29817	0.0745	N	0.08118	0	0.80722	D	1	P	0.48503	0.911	P	0.51516	0.672	T	0.03306	-1.1050	9	.	.	.	.	9.9082	0.41388	0.1047:0.0:0.8953:0.0	.	108	Q92796	DLG3_HUMAN	D	108	ENSP00000194900:E108D;ENSP00000363480:E108D	.	E	+	3	2	DLG3	69582100	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.316000	0.33620	0.765000	0.33221	0.425000	0.28330	GAG			0.687	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057074.2		NM_021120	
CENPI	2491	mdanderson.org	37	X	100383722	100383722	+	Silent	SNP	C	C	A			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrX:100383722C>A	ENST00000372927.1	+	11	1369	c.1092C>A	c.(1090-1092)ggC>ggA	p.G364G	CENPI_ENST00000372926.1_Silent_p.G364G|CENPI_ENST00000423383.1_Silent_p.G364G|CENPI_ENST00000218507.5_Silent_p.G364G	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	364					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CTCAGATGGGCTCAGTGCTAA	0.393																																					p.G364G													.	.			0			c.C1092A												192.0	161.0	171.0					X																	100383722		2203	4300	6503	SO:0001819	synonymous_variant	2491	exon11			GATGGGCTCAGTG	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1092C>A	X.37:g.100383722C>A			33	0	0		41	0.07	3	NM_006733	10	0.00	0	Q5JWZ9|Q96ED0	Silent	SNP	ENST00000372927.1	37	CCDS14479.1																																																																																					0.393	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057519.1		NM_006733	
RGAG1	57529	mdanderson.org	37	X	109694903	109694903	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrX:109694903C>T	ENST00000465301.2	+	3	1304	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	RGAG1_ENST00000540313.1_Missense_Mutation_p.A353V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	353										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTAATGACGGCCCTACCCTCT	0.537																																					p.A353V													.	.			0			c.C1058T												218.0	208.0	211.0					X																	109694903		2203	4300	6503	SO:0001583	missense	57529	exon3			TGACGGCCCTACC	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1058C>T	X.37:g.109694903C>T	ENSP00000419786:p.Ala353Val		53	0	0		51	0.06	3	NM_020769	2	0.00	0	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411476	0.62399	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.55052	0.54;0.54	4.42	3.54	0.40534	.	0.437633	0.16947	N	0.193077	T	0.54398	0.1856	L	0.32530	0.975	0.09310	N	1	D	0.59767	0.986	P	0.58130	0.833	T	0.42832	-0.9428	9	.	.	.	-1.5446	11.4054	0.49894	0.0:0.8198:0.1802:0.0	.	353	Q8NET4	RGAG1_HUMAN	V	353	ENSP00000419786:A353V;ENSP00000441452:A353V	.	A	+	2	0	RGAG1	109581559	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.896000	0.28377	1.187000	0.43000	0.600000	0.82982	GCC			0.537	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057906.2		NM_020769	
KDM5D	8284	bcgsc.ca	37	Y	21878489	21878489	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrY:21878489G>T	ENST00000317961.4	-	14	2100	c.1829C>A	c.(1828-1830)gCt>gAt	p.A610D	KDM5D_ENST00000541639.1_Missense_Mutation_p.A641D|KDM5D_ENST00000382806.2_Missense_Mutation_p.A553D	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	610	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CACCCAGTCAGCAGTACAAAA	0.448																																					p.A641D													.	KDM5D	40		0			c.C1922A												66.0	66.0	66.0					Y																	21878489		601	1944	2545	SO:0001583	missense	8284	exon15			CAGTCAGCAGTAC	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.1829C>A	Y.37:g.21878489G>T	ENSP00000322408:p.Ala610Asp		103	0	0		52	0.08	4	NM_001146705	10	0.00	0	A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	CCDS14794.1																																																																																					0.448	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088790.1		NM_004653	
PLCD3	113026	mdanderson.org	37	17	43194020	43194020	+	Silent	SNP	G	G	T			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:43194020G>T	ENST00000322765.5	-	8	1505	c.1392C>A	c.(1390-1392)ccC>ccA	p.P464P	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	464	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GCAGCTCCTCGGGATTTGGGG	0.687																																					.													PLCD3_ENST00000322765,NS,carcinoma,0,2	PLCD3_ENST00000322765	0	2	0			.												38.0	44.0	42.0					17																	43194020		2075	4198	6273	SO:0001819	synonymous_variant	113026	.			CTCCTCGGGATTT	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1392C>A	17.37:g.43194020G>T			63	0	0		47	0.06	3	.	30	0.00	0	Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37																																																																																						0.687	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_133373	
