#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_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_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_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
GPRIN2	9721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	46998903	46998903	+	Missense_Mutation	SNP	C	C	T	rs201821942		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:46998903C>T	ENST00000374317.1	+	3	296	c.23C>T	c.(22-24)cCg>cTg	p.P8L	GPRIN2_ENST00000374314.4_Missense_Mutation_p.P8L	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	8										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CGCCCCGAGCCGGGTCCCTGG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		32033	0.0		0.001	False		,,,				2504	0.0					.											0													52.0	71.0	65.0					10																	46998903		2183	4269	6452	SO:0001583	missense	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.23C>T	10.37:g.46998903C>T	ENSP00000363436:p.Pro8Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	1.482	-0.557032	0.03967	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03745	3.82;3.82	5.33	2.39	0.29439	.	0.314820	0.23345	N	0.049188	T	0.02688	0.0081	L	0.38838	1.175	0.28702	N	0.904026	P	0.41420	0.749	B	0.35770	0.21	T	0.39035	-0.9633	10	0.11182	T	0.66	-6.6511	8.5351	0.33357	0.3107:0.5393:0.15:0.0	.	8	O60269	GRIN2_HUMAN	L	8	ENSP00000363436:P8L;ENSP00000363433:P8L	ENSP00000363433:P8L	P	+	2	0	GPRIN2	46418909	0.016000	0.18221	0.062000	0.19696	0.207000	0.24258	0.730000	0.26043	0.303000	0.22785	-0.181000	0.13052	CCG		0.642	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
RNF10	9921	hgsc.bcm.edu	37	12	120972755	120972755	+	Silent	SNP	G	G	A	rs374593114		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr12:120972755G>A	ENST00000325954.4	+	1	602	c.141G>A	c.(139-141)gaG>gaA	p.E47E	RNF10_ENST00000413266.2_Silent_p.E47E	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	47	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCCGGCGAGTCTAAACCCA	0.682																																						.											0								G		0,4224		0,0,2112	10.0	15.0	13.0		141	5.1	1.0	12		13	1,8351		0,1,4175	no	coding-synonymous	RNF10	NM_014868.4		0,1,6287	AA,AG,GG		0.012,0.0,0.0080		47/812	120972755	1,12575	2112	4176	6288	SO:0001819	synonymous_variant	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.141G>A	12.37:g.120972755G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	CCDS9201.1																																																																																				0.682	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4		
MYCBP2	23077	hgsc.bcm.edu;bcgsc.ca	37	13	77714270	77714270	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr13:77714270G>A	ENST00000544440.2	-	51	7333	c.7316C>T	c.(7315-7317)gCg>gTg	p.A2439V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A2477V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A2439V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCGAAGCCCCGCACTGTCCTT	0.418																																						.											0													69.0	67.0	68.0					13																	77714270		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7316C>T	13.37:g.77714270G>A	ENSP00000444596:p.Ala2439Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	33	5.222024	0.95139	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.34667	1.35;1.35;1.35	5.68	5.68	0.88126	.	0.057680	0.64402	N	0.000002	T	0.56529	0.1991	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.55704	-0.8099	10	0.66056	D	0.02	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	2439	O75592	MYCB2_HUMAN	V	2439;2477;2439	ENSP00000349892:A2439V;ENSP00000384288:A2477V;ENSP00000444596:A2439V	ENSP00000349892:A2439V	A	-	2	0	MYCBP2	76612271	1.000000	0.71417	0.989000	0.46669	0.839000	0.47603	9.476000	0.97823	2.673000	0.90976	0.650000	0.86243	GCG		0.418	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
METTL9	51108	hgsc.bcm.edu	37	16	21611112	21611112	+	Missense_Mutation	SNP	A	A	T	rs200797380		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr16:21611112A>T	ENST00000358154.3	+	1	316	c.58A>T	c.(58-60)Agg>Tgg	p.R20W	METTL9_ENST00000396014.4_Missense_Mutation_p.R20W	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	20										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GCTGGCGCGGAGGATGTGGAC	0.756																																						.											0								A	TRP/ARG,TRP/ARG	0,3834		0,0,1917	6.0	8.0	8.0		58,58	4.4	1.0	16		8	11,7793		0,11,3891	yes	missense,missense	METTL9	NM_001077180.1,NM_016025.3	101,101	0,11,5808	TT,TA,AA		0.141,0.0,0.0945	probably-damaging,probably-damaging	20/318,20/319	21611112	11,11627	1917	3902	5819	SO:0001583	missense	51108			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"""DORA reverse strand protein 1"""	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.58A>T	16.37:g.21611112A>T	ENSP00000350874:p.Arg20Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	A	17.97	3.519579	0.64634	0.0	0.00141	ENSG00000197006	ENST00000358154;ENST00000396014	.	.	.	4.43	4.43	0.53597	.	0.187364	0.45867	U	0.000328	T	0.50154	0.1599	N	0.24115	0.695	0.37282	D	0.907887	P;D	0.63046	0.939;0.992	B;P	0.55545	0.427;0.778	T	0.60372	-0.7276	9	0.87932	D	0	-4.0636	10.3188	0.43753	1.0:0.0:0.0:0.0	.	20;20	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	W	20	.	ENSP00000350874:R20W	R	+	1	2	METTL9	21518613	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.133000	0.31430	1.742000	0.51746	0.391000	0.25812	AGG		0.756	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025	
SLC5A10	125206	hgsc.bcm.edu	37	17	18918510	18918511	+	In_Frame_Ins	INS	-	-	CGGTACGGGGGTGGGGGC	rs62066653|rs56122861		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr17:18918510_18918511insCGGTACGGGGGTGGGGGC	ENST00000395645.3	+	11	1257_1258	c.1239_1240insCGGTACGGGGGTGGGGGC	c.(1240-1242)cgg>CGGTACGGGGGTGGGGGCcgg	p.414_414R>RYGGGGR	SLC5A10_ENST00000417251.2_In_Frame_Ins_p.378_378R>RYGGGGR|SLC5A10_ENST00000395643.2_In_Frame_Ins_p.387_387R>RYGGGGR|SLC5A10_ENST00000395647.2_In_Frame_Ins_p.430_430R>RYGGGGR|SLC5A10_ENST00000395642.1_In_Frame_Ins_p.347_347R>RYGGGGR|SLC5A10_ENST00000317977.6_In_Frame_Ins_p.347_347R>RYGGGGR	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	414					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGCTGGTGGGACGGTACGGGGG	0.644																																						.											0									,	879,3059		216,447,1306					,	-6.3	0.9		dbSNP_130	13	5584,1796		2403,778,509	no	coding-near-splice,coding-near-splice	SLC5A10	NM_152351.3,NM_001042450.1	,	2619,1225,1815	A1A1,A1R,RR		24.336,22.321,42.8963	,	,		6463,4855				SO:0001652	inframe_insertion	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	Exception_encountered	17.37:g.18918510_18918511insCGGTACGGGGGTGGGGGC	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	In_Frame_Ins	INS	ENST00000395645.3	37	CCDS42275.1																																																																																				0.644	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.N239D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGAACTGTTACACATGTAG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(1)											133.0	104.0	114.0					17																	7577566		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
GAPDHS	26330	hgsc.bcm.edu	37	19	36033313	36033313	+	Splice_Site	SNP	T	T	C	rs558746420	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:36033313T>C	ENST00000222286.4	+	5	656		c.e5+2		AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	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)			GCAGCTTCGGTAAGCTGGGGA	0.637																																						.											0													43.0	42.0	42.0					19																	36033313		2203	4300	6503	SO:0001630	splice_region_variant	26330			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.540+2T>C	19.37:g.36033313T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RC82|O60823|Q6JTT9|Q9HCU6	Splice_Site	SNP	ENST00000222286.4	37	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031348	0.75504	.	.	ENSG00000105679	ENST00000222286	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8058	0.52155	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAPDHS	40725153	1.000000	0.71417	0.798000	0.32154	0.842000	0.47809	7.479000	0.81095	2.115000	0.64714	0.379000	0.24179	.		0.637	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364	Intron
UGT3A1	133688	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	35957478	35957478	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:35957478A>T	ENST00000274278.3	-	5	1244	c.887T>A	c.(886-888)gTc>gAc	p.V296D	UGT3A1_ENST00000503189.1_Missense_Mutation_p.V296D|UGT3A1_ENST00000507113.1_Missense_Mutation_p.V262D|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	296						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCCACAAGGACAAACCCTGC	0.493																																						.											0													95.0	83.0	87.0					5																	35957478		2203	4300	6503	SO:0001583	missense	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.887T>A	5.37:g.35957478A>T	ENSP00000274278:p.Val296Asp	Somatic		WXS	Illumina HiSeq	Phase_I	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	13.85	2.360365	0.41801	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.72725	-0.68;-0.68;-0.68	3.28	3.28	0.37604	.	0.632758	0.14275	N	0.329919	D	0.87621	0.6223	H	0.95402	3.665	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.996	D;D;D	0.76071	0.981;0.98;0.987	D	0.88995	0.3417	10	0.87932	D	0	.	11.2924	0.49258	1.0:0.0:0.0:0.0	.	262;296;296	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	D	296;296;262	ENSP00000274278:V296D;ENSP00000427079:V296D;ENSP00000426100:V262D	ENSP00000274278:V296D	V	-	2	0	UGT3A1	35993235	0.878000	0.30173	0.994000	0.49952	0.137000	0.21094	4.441000	0.59981	1.431000	0.47355	0.383000	0.25322	GTC		0.493	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	
UPP1	7378	broad.mit.edu;hgsc.bcm.edu	37	7	48147910	48147911	+	Frame_Shift_Ins	INS	-	-	GGCT			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:48147910_48147911insGGCT	ENST00000331803.4	+	10	1512_1513	c.889_890insGGCT	c.(889-891)cggfs	p.-298fs	UPP1_ENST00000395564.4_Frame_Shift_Ins_p.-298fs|UPP1_ENST00000341253.4_Frame_Shift_Ins_p.-298fs|UPP1_ENST00000429491.2_Frame_Shift_Ins_p.-161fs|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1						cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.R297Q(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GAGGCCGCAGCGGCTGGTGAGC	0.594																																						.											1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	7378			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.890_893dupGGCT	7.37:g.48147911_48147914dupGGCT	ENSP00000330032:p.Leu298fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVM4|Q15362	Frame_Shift_Ins	INS	ENST00000331803.4	37	CCDS5507.1																																																																																				0.594	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364	
IQUB	154865	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	123119977	123119977	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:123119977C>G	ENST00000466202.1	-	8	1858	c.1282G>C	c.(1282-1284)Gct>Cct	p.A428P	IQUB_ENST00000324698.6_Missense_Mutation_p.A428P|IQUB_ENST00000434450.1_Missense_Mutation_p.A428P	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	428					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCCTTTCAGCTCCAGTAAAA	0.383																																						.											0													111.0	101.0	104.0					7																	123119977		2203	4299	6502	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1282G>C	7.37:g.123119977C>G	ENSP00000417769:p.Ala428Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301776	0.81136	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.50548	1.75;1.75;0.74	5.73	5.73	0.89815	.	0.048468	0.85682	D	0.000000	T	0.46908	0.1417	L	0.31752	0.955	0.53688	D	0.99997	P;P	0.47762	0.9;0.84	P;B	0.46940	0.532;0.405	T	0.38499	-0.9658	10	0.45353	T	0.12	.	19.4877	0.95037	0.0:1.0:0.0:0.0	.	428;428	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	P	428	ENSP00000417769:A428P;ENSP00000324882:A428P;ENSP00000388498:A428P	ENSP00000324882:A428P	A	-	1	0	IQUB	122907213	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.219000	0.51200	2.709000	0.92574	0.563000	0.77884	GCT		0.383	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
RP11-402P6.7	0	hgsc.bcm.edu	37	X	70937235	70937235	+	lincRNA	DEL	C	C	-			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chrX:70937235delC	ENST00000457716.1	+	0	0				CXorf49_ENST00000535490.1_lincRNA																							CAGGAAACGGCCCGGCACAGG	0.622																																						.											0																																												100130361																															X.37:g.70937235delC		Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000457716.1	37																																																																																					0.622	RP11-402P6.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058868.1		
RP11-402P6.11	0	hgsc.bcm.edu	37	X	70984038	70984038	+	lincRNA	DEL	G	G	-			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chrX:70984038delG	ENST00000439926.1	-	0	0				CXorf49B_ENST00000542739.1_lincRNA																							TGCCTGTGCCGGGCCGTTTCC	0.622																																						.											0																																												100130361																															X.37:g.70984038delG		Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000439926.1	37																																																																																					0.622	RP11-402P6.11-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057168.1		
NMT2	9397	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	10	15172216	15172216	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:15172216C>T	ENST00000378165.4	-	7	895	c.815G>A	c.(814-816)aGa>aAa	p.R272K	NMT2_ENST00000535341.1_Missense_Mutation_p.R259K|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Missense_Mutation_p.R84K|NMT2_ENST00000378150.1_Missense_Mutation_p.R259K	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	272					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CAGGTTCACTCTTCTAGTGAT	0.468																																					Melanoma(117;1345 1645 4130 12688 30625)	.											0													119.0	111.0	114.0					10																	15172216		2203	4300	6503	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.815G>A	10.37:g.15172216C>T	ENSP00000367407:p.Arg272Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193219	0.78902	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.56611	0.45	5.57	5.57	0.84162	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.94142	3.5	0.80722	D	1	B;B;B	0.22211	0.066;0.021;0.066	B;B;B	0.32090	0.14;0.063;0.14	T	0.74160	-0.3755	10	0.87932	D	0	-25.6325	19.98	0.97322	0.0:1.0:0.0:0.0	.	272;259;272	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	K	272;259;303;84;259	ENSP00000367407:R272K	ENSP00000367385:R303K	R	-	2	0	NMT2	15212222	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	AGA		0.468	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808	
MGA	23269	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	42052530	42052530	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr15:42052530A>G	ENST00000570161.1	+	19	7201	c.7201A>G	c.(7201-7203)Att>Gtt	p.I2401V	MGA_ENST00000566586.1_Missense_Mutation_p.I2192V|MGA_ENST00000389936.4_Missense_Mutation_p.I2362V|MGA_ENST00000545763.1_Missense_Mutation_p.I2192V|MGA_ENST00000219905.7_Missense_Mutation_p.I2401V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCTCCACCAATTCCTCTAAA	0.463																																						.											0													87.0	87.0	87.0					15																	42052530		1913	4128	6041	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7201A>G	15.37:g.42052530A>G	ENSP00000457035:p.Ile2401Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	a	5.324	0.245095	0.10077	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83591	-1.72;-1.73;-1.74	5.53	-11.1	0.00147	.	1.465370	0.04622	N	0.402182	T	0.58524	0.2128	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.49370	-0.8947	10	0.32370	T	0.25	.	4.9521	0.14019	0.5099:0.0734:0.2689:0.1478	.	1017;2192;2401	B4DVS1;F5H7K2;E7ENI0	.;.;.	V	2401;2362;2192	ENSP00000219905:I2401V;ENSP00000374586:I2362V;ENSP00000442467:I2192V	ENSP00000219905:I2401V	I	+	1	0	MGA	39839822	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.442000	0.01014	-2.453000	0.00541	-1.779000	0.00650	ATT		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
ZNF555	148254	broad.mit.edu;hgsc.bcm.edu	37	19	2853382	2853382	+	Missense_Mutation	SNP	G	G	A	rs557630264		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:2853382G>A	ENST00000334241.4	+	4	1457	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	ZNF555_ENST00000591539.1_Missense_Mutation_p.R439Q|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATATCTTTACGAAAACATATG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		24089	0.001		0.0	False		,,,				2504	0.0					.											0													60.0	52.0	54.0					19																	2853382		2203	4300	6503	SO:0001583	missense	148254			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1319G>A	19.37:g.2853382G>A	ENSP00000334853:p.Arg440Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572211	0.28092	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.04275	3.66	3.22	-0.334	0.12666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01870	0.0059	N	0.13168	0.305	0.09310	N	1	P;P	0.39157	0.662;0.638	B;B	0.24394	0.039;0.053	T	0.46775	-0.9167	9	0.21540	T	0.41	.	3.8104	0.08795	0.2611:0.4116:0.3272:0.0	.	440;439	Q8NEP9;A8KA89	ZN555_HUMAN;.	Q	440;439	ENSP00000334853:R440Q	ENSP00000334853:R440Q	R	+	2	0	ZNF555	2804382	0.000000	0.05858	0.001000	0.08648	0.814000	0.46013	-1.600000	0.02083	0.158000	0.19367	0.561000	0.74099	CGA		0.453	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791	
DNAJB2	3300	hgsc.bcm.edu	37	2	220149586	220149586	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr2:220149586G>T	ENST00000336576.5	+	9	1140	c.852G>T	c.(850-852)caG>caT	p.Q284H	DNAJB2_ENST00000392086.4_Intron	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	284					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGACGGCAGGGGCGGCCCA	0.662																																						.											0													17.0	19.0	18.0					2																	220149586		2199	4297	6496	SO:0001583	missense	3300				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.852G>T	2.37:g.220149586G>T	ENSP00000338019:p.Gln284His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708121	0.30322	.	.	ENSG00000135924	ENST00000336576	T	0.61627	0.09	4.79	2.83	0.33086	.	7739.210000	0.00166	N	0.000000	T	0.46367	0.1389	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	10	0.34782	T	0.22	.	9.4716	0.38847	0.0:0.1193:0.5069:0.3738	.	284	P25686	DNJB2_HUMAN	H	284	ENSP00000338019:Q284H	ENSP00000338019:Q284H	Q	+	3	2	DNAJB2	219857830	0.994000	0.37717	0.999000	0.59377	0.654000	0.38779	1.245000	0.32790	1.195000	0.43115	0.456000	0.33151	CAG		0.662	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2		
DNAH14	127602	broad.mit.edu	37	1	225477667	225477667	+	Silent	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:225477667T>C	ENST00000445597.2	+	35	6114	c.6114T>C	c.(6112-6114)ccT>ccC	p.P2038P	DNAH14_ENST00000439375.2_Silent_p.P2691P|DNAH14_ENST00000430092.1_Silent_p.P2691P			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2038					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ACCGAGTGCCTATATCTCACA	0.378																																						.											0													180.0	166.0	170.0					1																	225477667		692	1590	2282	SO:0001819	synonymous_variant	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.6114T>C	1.37:g.225477667T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Silent	SNP	ENST00000445597.2	37																																																																																					0.378	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166	
HNRNPU	3192	broad.mit.edu	37	1	245022136	245022136	+	Silent	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:245022136T>C	ENST00000283179.9	-	6	1288	c.1125A>G	c.(1123-1125)gaA>gaG	p.E375E	HNRNPU_ENST00000444376.2_Silent_p.E356E			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	375	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AAGAAAATTCTTCTTCACCTA	0.289																																					NSCLC(33;911 1010 3329 23631 49995)	.											0													69.0	69.0	69.0					1																	245022136		2202	4292	6494	SO:0001819	synonymous_variant	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1125A>G	1.37:g.245022136T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	CCDS41479.1																																																																																				0.289	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844	
MUC2	4583	broad.mit.edu	37	11	1092849	1092849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:1092849delG	ENST00000441003.2	+	30	4695	c.4668delG	c.(4666-4668)cagfs	p.Q1556fs	MUC2_ENST00000359061.5_Frame_Shift_Del_p.Q1557fs|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGGCACACAGACCCCAACAA	0.632																																						.											0													102.0	135.0	123.0					11																	1092849		1891	3510	5401	SO:0001589	frameshift_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4668delG	11.37:g.1092849delG	ENSP00000415183:p.Gln1556fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q14878	Frame_Shift_Del	DEL	ENST00000441003.2	37																																																																																					0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
KIRREL3	84623	broad.mit.edu	37	11	126396466	126396466	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:126396466C>T	ENST00000525144.2	-	3	499	c.250G>A	c.(250-252)Ggc>Agc	p.G84S	KIRREL3_ENST00000529097.2_Missense_Mutation_p.G84S|KIRREL3_ENST00000525704.2_Missense_Mutation_p.G84S	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	84	Ig-like C2-type 1.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AGAGCCAAGCCGTCCTTGATC	0.617																																						.											0													58.0	65.0	63.0					11																	126396466		2055	4185	6240	SO:0001583	missense	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.250G>A	11.37:g.126396466C>T	ENSP00000435466:p.Gly84Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216205	0.95104	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.37235	1.21;1.21;1.21	4.57	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	T	0.76558	-0.2915	10	0.72032	D	0.01	-14.5136	17.5449	0.87858	0.0:1.0:0.0:0.0	.	84;84;84	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	S	84	ENSP00000435466:G84S;ENSP00000434081:G84S;ENSP00000435094:G84S	ENSP00000435466:G84S	G	-	1	0	KIRREL3	125901676	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	7.289000	0.78701	2.343000	0.79666	0.655000	0.94253	GGC		0.617	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
CSNK1A1L	122011	broad.mit.edu	37	13	37678605	37678605	+	Silent	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr13:37678605A>G	ENST00000379800.3	-	1	1198	c.789T>C	c.(787-789)tgT>tgC	p.C263C		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCAGCCCACGACAGTAGTTCA	0.428																																						.											0													144.0	136.0	139.0					13																	37678605		2203	4300	6503	SO:0001819	synonymous_variant	122011			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.789T>C	13.37:g.37678605A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				0.428	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203	
MLH3	27030	broad.mit.edu	37	14	75513814	75513814	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:75513814T>C	ENST00000556740.1	-	1	2580	c.2545A>G	c.(2545-2547)Agt>Ggt	p.S849G	MLH3_ENST00000355774.2_Missense_Mutation_p.S849G|MLH3_ENST00000238662.7_Missense_Mutation_p.S849G|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.S849G			Q9UHC1	MLH3_HUMAN	mutL homolog 3	849					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTCATAGGACTTTCTCTCAAA	0.403								Mismatch excision repair (MMR)																														.											0													83.0	88.0	86.0					14																	75513814		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2545A>G	14.37:g.75513814T>C	ENSP00000452316:p.Ser849Gly	Somatic		WXS	Illumina HiSeq	Phase_I	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	9.918	1.211294	0.22289	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.88431	-2.13;-2.26;-2.38;-2.13	5.93	5.93	0.95920	.	0.106980	0.64402	D	0.000004	D	0.88411	0.6429	M	0.68952	2.095	0.80722	D	1	B;B	0.30851	0.231;0.297	B;B	0.34452	0.183;0.129	D	0.87668	0.2539	10	0.72032	D	0.01	-17.858	12.7684	0.57405	0.0:0.0:0.0:1.0	.	849;849	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	G	849	ENSP00000348020:S849G;ENSP00000238662:S849G;ENSP00000451540:S849G;ENSP00000452316:S849G	ENSP00000238662:S849G	S	-	1	0	MLH3	74583567	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.687000	0.46976	2.263000	0.75096	0.533000	0.62120	AGT		0.403	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
AHNAK2	113146	broad.mit.edu	37	14	105420878	105420878	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105420878G>T	ENST00000333244.5	-	7	1029	c.910C>A	c.(910-912)Ctc>Atc	p.L304I	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	304						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L304I(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACCGTGAGCTGGGCCTCT	0.652																																						.											1	Substitution - Missense(1)	lung(1)											30.0	33.0	32.0					14																	105420878		2131	4245	6376	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.910C>A	14.37:g.105420878G>T	ENSP00000353114:p.Leu304Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	17.88	3.496303	0.64186	.	.	ENSG00000185567	ENST00000333244	T	0.02763	4.17	4.87	-5.93	0.02254	.	2.205970	0.03813	U	0.266218	T	0.02230	0.0069	L	0.40543	1.245	0.09310	N	1	B	0.25312	0.123	B	0.22152	0.038	T	0.45440	-0.9261	10	0.20046	T	0.44	.	1.1649	0.01813	0.4134:0.1113:0.1404:0.3349	.	304	Q8IVF2	AHNK2_HUMAN	I	304	ENSP00000353114:L304I	ENSP00000353114:L304I	L	-	1	0	AHNAK2	104491923	0.000000	0.05858	0.001000	0.08648	0.384000	0.30261	-0.242000	0.08928	-0.771000	0.04608	0.650000	0.86243	CTC		0.652	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
ZNF20	7568	broad.mit.edu	37	19	12244276	12244276	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:12244276A>G	ENST00000334213.5	-	4	949	c.725T>C	c.(724-726)cTt>cCt	p.L242P	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	242					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)|kidney(1)|lung(6)	8						ATGTACTGGAAGGGTAGTGGA	0.378																																						.											0													89.0	93.0	91.0					19																	12244276		2153	4270	6423	SO:0001583	missense	7568			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.725T>C	19.37:g.12244276A>G	ENSP00000335437:p.Leu242Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.987020	0.35036	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.26660	1.72	0.94	0.94	0.19513	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46328	0.1387	M	0.89534	3.04	0.09310	N	0.999996	D	0.65815	0.995	P	0.56514	0.8	T	0.30446	-0.9978	9	0.87932	D	0	.	6.0337	0.19694	1.0:0.0:0.0:0.0	.	242	P17024	ZNF20_HUMAN	P	242	ENSP00000335437:L242P	ENSP00000292241:L242P	L	-	2	0	ZNF20	12105276	0.023000	0.18921	0.001000	0.08648	0.153000	0.21895	3.031000	0.49728	0.654000	0.30846	0.260000	0.18958	CTT		0.378	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143	
CRTC1	23373	broad.mit.edu	37	19	18879483	18879483	+	Silent	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:18879483C>T	ENST00000321949.8	+	10	1226	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P	CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Silent_p.P359P|CRTC1_ENST00000338797.6_Silent_p.P416P	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCCTGTTGCCCAGCGCCAGCC	0.756																																						.											0													9.0	9.0	9.0					19																	18879483		2174	4238	6412	SO:0001819	synonymous_variant	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1200C>T	19.37:g.18879483C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000321949.8	37	CCDS32963.1																																																																																				0.756	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021	
KYNU	8942	broad.mit.edu	37	2	143718278	143718278	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr2:143718278T>C	ENST00000264170.4	+	8	926	c.668T>C	c.(667-669)gTg>gCg	p.V223A	KYNU_ENST00000409512.1_Missense_Mutation_p.V223A|KYNU_ENST00000375773.2_Missense_Mutation_p.V223A	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTCAGTGGGGTGCATTTTTAC	0.428																																						.											0													143.0	139.0	140.0					2																	143718278		2203	4300	6503	SO:0001583	missense	8942			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.668T>C	2.37:g.143718278T>C	ENSP00000264170:p.Val223Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.906706	0.72868	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.56776	0.44;0.44;0.44	5.35	5.35	0.76521	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.467479	0.21519	N	0.073244	T	0.77425	0.4128	M	0.90019	3.08	0.80722	D	1	D;P	0.55800	0.973;0.785	D;P	0.69824	0.966;0.852	T	0.82341	-0.0505	10	0.87932	D	0	.	15.3368	0.74263	0.0:0.0:0.0:1.0	.	223;223	Q16719;Q9BVW3	KYNU_HUMAN;.	A	223	ENSP00000264170:V223A;ENSP00000364928:V223A;ENSP00000386731:V223A	ENSP00000264170:V223A	V	+	2	0	KYNU	143434748	1.000000	0.71417	0.907000	0.35723	0.507000	0.33981	7.639000	0.83342	2.156000	0.67533	0.524000	0.50904	GTG		0.428	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	
PTPRA	5786	broad.mit.edu;bcgsc.ca	37	20	2998555	2998555	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr20:2998555A>G	ENST00000216877.6	+	12	1410	c.1010A>G	c.(1009-1011)aAg>aGg	p.K337R	PTPRA_ENST00000425918.2_Missense_Mutation_p.K357R|PTPRA_ENST00000358719.4_Missense_Mutation_p.K202R|PTPRA_ENST00000399903.2_Missense_Mutation_p.K346R|PTPRA_ENST00000318266.5_Missense_Mutation_p.K337R|PTPRA_ENST00000356147.3_Missense_Mutation_p.K337R|PTPRA_ENST00000380393.3_Missense_Mutation_p.K346R	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	346	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGGAGAGAAAGGAGGTAAGT	0.453																																						.											0													99.0	90.0	93.0					20																	2998555		2203	4300	6503	SO:0001583	missense	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1010A>G	20.37:g.2998555A>G	ENSP00000216877:p.Lys337Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.895360	0.91962	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.93	5.93	0.95920	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	T	0.28566	0.0707	L	0.49455	1.56	0.80722	D	1	P;D;P	0.61697	0.834;0.99;0.85	P;D;P	0.71870	0.512;0.975;0.51	T	0.00473	-1.1718	10	0.72032	D	0.01	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	357;346;337	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	R	346;337;346;202;357;337;337	ENSP00000369756:K346R;ENSP00000216877:K337R;ENSP00000382787:K346R;ENSP00000351559:K202R;ENSP00000393553:K357R;ENSP00000314568:K337R;ENSP00000348468:K337R	ENSP00000216877:K337R	K	+	2	0	PTPRA	2946555	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.204000	0.77872	2.281000	0.76405	0.533000	0.62120	AAG		0.453	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3		
SYCP2	10388	broad.mit.edu	37	20	58452519	58452519	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr20:58452519delT	ENST00000357552.3	-	33	3296	c.3071delA	c.(3070-3072)aacfs	p.N1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.N1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATCTTTATAGTTTTTTTTTGT	0.328																																						.											0													58.0	61.0	60.0					20																	58452519		2200	4295	6495	SO:0001589	frameshift_variant	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3071delA	20.37:g.58452519delT	ENSP00000350162:p.Asn1024fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	ENST00000357552.3	37	CCDS13482.1																																																																																				0.328	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
ENTHD1	150350	broad.mit.edu	37	22	40161248	40161248	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr22:40161248A>T	ENST00000325157.6	-	6	1449	c.1199T>A	c.(1198-1200)aTc>aAc	p.I400N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	400								p.I400N(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGTCTTGAGGATTTTATCATC	0.418																																						.											1	Substitution - Missense(1)	kidney(1)											89.0	87.0	88.0					22																	40161248		2203	4300	6503	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1199T>A	22.37:g.40161248A>T	ENSP00000317431:p.Ile400Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	1.041	-0.678824	0.03378	.	.	ENSG00000176177	ENST00000325157	T	0.42900	0.96	5.91	-1.79	0.07932	.	4.854570	0.00397	N	0.000047	T	0.17662	0.0424	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09378	-1.0677	10	0.23302	T	0.38	0.181	4.1611	0.10284	0.2446:0.291:0.0:0.4644	.	400	Q8IYW4	ENTD1_HUMAN	N	400	ENSP00000317431:I400N	ENSP00000317431:I400N	I	-	2	0	ENTHD1	38491194	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-1.009000	0.03660	-0.427000	0.07350	-0.339000	0.08088	ATC		0.418	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512	
DAZL	1618	broad.mit.edu	37	3	16638275	16638275	+	Silent	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr3:16638275A>G	ENST00000399444.2	-	6	773	c.480T>C	c.(478-480)ccT>ccC	p.P160P	DAZL_ENST00000250863.8_Silent_p.P180P	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	160					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ACTGAGTTATAGGATTCATCG	0.383																																						.											0													189.0	184.0	186.0					3																	16638275		2052	4207	6259	SO:0001819	synonymous_variant	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"""RNA binding motif (RRM) containing"""	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.480T>C	3.37:g.16638275A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O15396|Q5HYB4|Q92909	Silent	SNP	ENST00000399444.2	37	CCDS43059.1																																																																																				0.383	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351	
LEKR1	389170	broad.mit.edu	37	3	156745919	156745919	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr3:156745919A>G	ENST00000470811.1	+	13	1819	c.484A>G	c.(484-486)Aga>Gga	p.R162G	LEKR1_ENST00000356539.4_Missense_Mutation_p.R466G			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	162										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGGCGCTACAAGAGATCTAAG	0.343																																						.											0													55.0	58.0	57.0					3																	156745919		2203	4300	6503	SO:0001583	missense	389170			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.484A>G	3.37:g.156745919A>G	ENSP00000418214:p.Arg162Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000470811.1	37		.	.	.	.	.	.	.	.	.	.	A	11.02	1.515270	0.27123	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.44881	0.91;0.91	5.48	2.93	0.34026	.	0.575833	0.16682	N	0.203903	T	0.31575	0.0801	L	0.51422	1.61	0.22819	N	0.998697	B	0.34015	0.435	B	0.30495	0.116	T	0.11941	-1.0567	10	0.27785	T	0.31	-5.3815	7.0189	0.24902	0.5714:0.2895:0.0:0.1392	.	162	Q6ZMV7	LEKR1_HUMAN	G	162;466	ENSP00000418214:R162G;ENSP00000348936:R466G	ENSP00000348936:R466G	R	+	1	2	LEKR1	158228613	0.055000	0.20627	0.992000	0.48379	0.984000	0.73092	0.717000	0.25851	0.883000	0.36040	0.533000	0.62120	AGA		0.343	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316	
HTT	3064	broad.mit.edu	37	4	3234985	3234985	+	Silent	SNP	C	C	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:3234985C>G	ENST00000355072.5	+	61	8506	c.8361C>G	c.(8359-8361)ctC>ctG	p.L2787L	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2787					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACGGCGTCCTCTATGTGCTGG	0.642																																						.											0													99.0	111.0	107.0					4																	3234985		2121	4228	6349	SO:0001819	synonymous_variant	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8361C>G	4.37:g.3234985C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.642	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
RASGRF2	5924	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	80504195	80504195	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:80504195A>G	ENST00000265080.4	+	22	3161	c.3094A>G	c.(3094-3096)Atg>Gtg	p.M1032V	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1032	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCAGGGGTGGATGAAGCTGGA	0.413																																						.											0													72.0	69.0	70.0					5																	80504195		2203	4300	6503	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3094A>G	5.37:g.80504195A>G	ENSP00000265080:p.Met1032Val	Somatic		WXS	Illumina HiSeq	Phase_I	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131835	0.77662	.	.	ENSG00000113319	ENST00000265080	T	0.29397	1.57	5.67	5.67	0.87782	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.102022	0.85682	D	0.000000	T	0.49081	0.1536	L	0.50919	1.6	0.58432	D	0.999999	P	0.50369	0.934	D	0.63488	0.915	T	0.44862	-0.9300	10	0.56958	D	0.05	.	15.5751	0.76373	1.0:0.0:0.0:0.0	.	1032	O14827	RGRF2_HUMAN	V	1032	ENSP00000265080:M1032V	ENSP00000265080:M1032V	M	+	1	0	RASGRF2	80539951	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.233000	0.95337	2.161000	0.67846	0.528000	0.53228	ATG		0.413	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
EYA1	2138	broad.mit.edu	37	8	72129213	72129213	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr8:72129213C>T	ENST00000340726.3	-	13	1825	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R	EYA1_ENST00000388743.2_Missense_Mutation_p.G395R|EYA1_ENST00000388740.3_Missense_Mutation_p.G363R|EYA1_ENST00000419131.1_Missense_Mutation_p.G361R|EYA1_ENST00000303824.7_Missense_Mutation_p.G390R|EYA1_ENST00000388742.4_Missense_Mutation_p.G396R|EYA1_ENST00000388741.2_Missense_Mutation_p.G362R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	396					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGGTCCTGTCCGTTATCATCT	0.338																																						.											0													137.0	129.0	132.0					8																	72129213		2203	4300	6503	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1186G>A	8.37:g.72129213C>T	ENSP00000342626:p.Gly396Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418716	0.83559	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.91351	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-2.83	5.34	5.34	0.76211	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.95114	0.8417	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.985;0.989;0.998;0.998	D	0.95168	0.8287	10	0.87932	D	0	-13.6874	19.2408	0.93881	0.0:1.0:0.0:0.0	.	390;323;363;396;361	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	R	396;396;364;363;390;362;395;361	ENSP00000373394:G396R;ENSP00000342626:G396R;ENSP00000373392:G363R;ENSP00000303221:G390R;ENSP00000373393:G362R;ENSP00000373395:G395R;ENSP00000410176:G361R	ENSP00000303221:G390R	G	-	1	0	EYA1	72291767	1.000000	0.71417	0.951000	0.38953	0.912000	0.54170	7.516000	0.81772	2.785000	0.95823	0.655000	0.94253	GGA		0.338	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
RC3H2	54542	broad.mit.edu	37	9	125620200	125620200	+	Splice_Site	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:125620200A>G	ENST00000373670.1	-	12	3055		c.e12+1		RC3H2_ENST00000423239.2_Splice_Site|RC3H2_ENST00000357244.2_Splice_Site			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2						B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACCTTTCTTACATCCGCACG	0.423																																						.											0													114.0	115.0	115.0					9																	125620200		1979	4148	6127	SO:0001630	splice_region_variant	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2454+1T>C	9.37:g.125620200A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Splice_Site	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.301389	0.60195	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8629	0.63571	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RC3H2	124660021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.339000	0.72969	2.206000	0.71126	0.533000	0.62120	.		0.423	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	Intron
HAVCR1	26762	ucsc.edu	37	5	156479568	156479568	+	Silent	SNP	C	C	T	rs386693994|rs139041445|rs6149307|rs10068551|rs141023871|rs77147640	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:156479568C>T	ENST00000339252.3	-	3	1009	c.477G>A	c.(475-477)acG>acA	p.T159T	HAVCR1_ENST00000522693.1_Silent_p.T159T|HAVCR1_ENST00000523175.1_Silent_p.T159T|HAVCR1_ENST00000544197.1_Silent_p.T159T|HAVCR1_ENST00000425854.1_Silent_p.T159T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.T160_V161insT(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAACAGTCGTCATTGGAA	0.488														70	0.0139776	0.0499	0.0058	5008	,	,		22483	0.0		0.0	False		,,,				2504	0.0					.											1	Insertion - In frame(1)	ovary(1)											463.0	356.0	392.0					5																	156479568		2125	4230	6355	SO:0001819	synonymous_variant	26762			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.477G>A	5.37:g.156479568C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O43656	Silent	SNP	ENST00000339252.3	37	CCDS43392.1																																																																																				0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1		
HERPUD2	64224	ucsc.edu	37	7	35678074	35678074	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:35678074T>C	ENST00000396081.1	-	5	1307	c.503A>G	c.(502-504)gAc>gGc	p.D168G	HERPUD2_ENST00000311350.3_Missense_Mutation_p.D168G|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	168					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AAATTGGTTGTCTACATTTCT	0.418																																						.											0													63.0	61.0	61.0					7																	35678074		2203	4300	6503	SO:0001583	missense	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.503A>G	7.37:g.35678074T>C	ENSP00000379390:p.Asp168Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	T	8.314	0.822852	0.16678	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517	T;T;T;T	0.28666	2.79;2.79;1.6;1.98	5.04	3.71	0.42584	.	0.554792	0.20697	N	0.087357	T	0.07007	0.0178	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	10	0.19147	T	0.46	-10.5907	1.6233	0.02718	0.2894:0.2009:0.0:0.5097	.	168	Q9BSE4	HERP2_HUMAN	G	168;168;104;142	ENSP00000379390:D168G;ENSP00000310729:D168G;ENSP00000415475:D104G;ENSP00000391015:D142G	ENSP00000310729:D168G	D	-	2	0	HERPUD2	35644599	0.563000	0.26594	0.709000	0.30452	0.988000	0.76386	2.230000	0.42999	2.008000	0.58898	0.533000	0.62120	GAC		0.418	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	
HNRNPA0	10949	ucsc.edu;bcgsc.ca	37	5	137089608	137089608	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:137089608A>G	ENST00000314940.4	-	1	431	c.148T>C	c.(148-150)Ttt>Ctt	p.F50L		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	50	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGAAGCCAAAGCAACGGGAG	0.657																																						.											0													51.0	52.0	52.0					5																	137089608		2203	4300	6503	SO:0001583	missense	10949			U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.148T>C	5.37:g.137089608A>G	ENSP00000316042:p.Phe50Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	A	35	5.486893	0.96323	.	.	ENSG00000177733	ENST00000314940	T	0.09350	2.99	4.93	4.93	0.64822	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.41373	0.1156	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.54132	-0.8339	10	0.87932	D	0	.	14.5742	0.68235	1.0:0.0:0.0:0.0	.	50	Q13151	ROA0_HUMAN	L	50	ENSP00000316042:F50L	ENSP00000316042:F50L	F	-	1	0	HNRNPA0	137117507	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.261000	0.95576	1.853000	0.53794	0.374000	0.22700	TTT		0.657	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805	
MYO7A	4647	ucsc.edu	37	11	76895792	76895792	+	Intron	SNP	T	T	G	rs111033223|rs12291062|rs143953991	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:76895792T>G	ENST00000409709.3	+	27	3775				MYO7A_ENST00000409893.1_Nonstop_Mutation_p.*1179G|MYO7A_ENST00000409619.2_Intron|MYO7A_ENST00000458637.2_Intron	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CACCAGGGCCTGAAAGTCTTT	0.597																																						.											0													12.0	14.0	14.0					11																	76895792		1891	3781	5672	SO:0001627	intron_variant	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3503+32T>G	11.37:g.76895792T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	3.277	-0.147957	0.06627	.	.	ENSG00000137474	ENST00000409893	.	.	.	4.38	-0.736	0.11133	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8881	0.09107	0.0:0.3197:0.1923:0.488	rs12291062	.	.	.	G	1179	.	.	X	+	1	0	MYO7A	76573440	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-0.037000	0.12164	-0.094000	0.12374	0.408000	0.27601	TGA		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
NEFH	4744	ucsc.edu;mdanderson.org	37	22	29885594	29885594	+	Silent	SNP	A	A	T	rs79235463|rs200984527|rs267607533	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr22:29885594A>T	ENST00000310624.6	+	4	1998	c.1965A>T	c.(1963-1965)ccA>ccT	p.P655P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	661	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCAAGTCCCCAGAGAAGGAAG	0.552																																						.											0													83.0	92.0	89.0					22																	29885594		2203	4300	6503	SO:0001819	synonymous_variant	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1965A>T	22.37:g.29885594A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																				0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
PANK3	79646	ucsc.edu	37	5	167988433	167988433	+	Missense_Mutation	SNP	T	T	A	rs77612793	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:167988433T>A	ENST00000239231.6	-	5	1217	c.901A>T	c.(901-903)Att>Ttt	p.I301F	PANK3_ENST00000520504.1_5'UTR|MIR103A1_ENST00000362165.1_RNA	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	301					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.I301F(2)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ACAGAACCAATGTTATTGGTG	0.333													T|||	528	0.105431	0.0484	0.1138	5008	,	,		18239	0.1369		0.1392	False		,,,				2504	0.1094					.											2	Substitution - Missense(2)	NS(1)|skin(1)											63.0	64.0	64.0					5																	167988433		2203	4300	6503	SO:0001583	missense	79646			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.901A>T	5.37:g.167988433T>A	ENSP00000239231:p.Ile301Phe	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.819248	0.90873	.	.	ENSG00000120137	ENST00000239231	D	0.99769	-6.7	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	H	0.95950	3.745	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96634	0.9469	10	0.87932	D	0	-14.7534	13.8724	0.63626	0.0:0.0:0.0:1.0	.	301	Q9H999	PANK3_HUMAN	F	301	ENSP00000239231:I301F	ENSP00000239231:I301F	I	-	1	0	PANK3	167921011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.308000	0.72820	1.870000	0.54199	0.454000	0.30748	ATT		0.333	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594	
PAOX	196743	ucsc.edu;bcgsc.ca	37	10	135193598	135193598	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:135193598A>G	ENST00000278060.5	+	2	360	c.277A>G	c.(277-279)Aag>Gag	p.K93E	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000357296.3_Missense_Mutation_p.K93E|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000480071.2_Missense_Mutation_p.K93E	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	231					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GCTGGGGGAGAAGGAGCTGTC	0.701																																						.											0													30.0	33.0	32.0					10																	135193598		2192	4298	6490	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.277A>G	10.37:g.135193598A>G	ENSP00000278060:p.Lys93Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	A	7.816	0.716827	0.15306	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	D;D;D	0.92149	-2.98;-2.98;-2.98	4.88	3.7	0.42460	.	0.308493	0.34088	N	0.004266	D	0.82917	0.5141	N	0.25094	0.71	0.80722	D	1	B;B;B	0.22683	0.017;0.073;0.003	B;B;B	0.31390	0.021;0.129;0.007	T	0.69209	-0.5205	10	0.08179	T	0.78	-25.1848	4.8478	0.13523	0.7108:0.1921:0.0971:0.0	.	93;93;93	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	E	93	ENSP00000278060:K93E;ENSP00000349847:K93E;ENSP00000435514:K93E	ENSP00000278060:K93E	K	+	1	0	PAOX	135043588	0.026000	0.19158	0.952000	0.39060	0.536000	0.34869	1.138000	0.31491	0.675000	0.31264	0.460000	0.39030	AAG		0.701	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911	
TPP2	7174	ucsc.edu	37	13	103288039	103288039	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr13:103288039A>G	ENST00000376065.4	+	12	1532	c.1496A>G	c.(1495-1497)cAt>cGt	p.H499R	TPP2_ENST00000376052.3_Missense_Mutation_p.H499R	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	499	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCAAGGACATGGTATTATT	0.323																																						.											0													95.0	97.0	96.0					13																	103288039		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1496A>G	13.37:g.103288039A>G	ENSP00000365233:p.His499Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352501	0.61293	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.87809	-2.3;-2.3	5.83	5.83	0.93111	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.140126	0.64402	D	0.000004	D	0.82337	0.5015	L	0.39020	1.185	0.80722	D	1	P	0.38677	0.642	B	0.37550	0.253	T	0.81152	-0.1063	10	0.30078	T	0.28	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	499	P29144	TPP2_HUMAN	R	499	ENSP00000365233:H499R;ENSP00000365220:H499R	ENSP00000365220:H499R	H	+	2	0	TPP2	102086040	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.211000	0.89754	2.231000	0.72958	0.460000	0.39030	CAT		0.323	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
ACIN1	22985	mdanderson.org	37	14	23548793	23548793	+	Missense_Mutation	SNP	C	C	T	rs80007670	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:23548793C>T	ENST00000262710.1	-	6	2252	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	ACIN1_ENST00000605057.1_Missense_Mutation_p.R584H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R602H|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.R642H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	642	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGAACGTGAACGTGACCTTGA	0.478																																						.											0								C	HIS/ARG,HIS/ARG,HIS/ARG	6,4400	6.2+/-15.9	0,6,2197	258.0	226.0	237.0		1925,1805,1925	3.2	0.8	14	dbSNP_131	237	24,8576	11.9+/-42.8	0,24,4276	yes	missense,missense,missense	ACIN1	NM_001164814.1,NM_001164815.1,NM_014977.3	29,29,29	0,30,6473	TT,TC,CC		0.2791,0.1362,0.2307	probably-damaging,probably-damaging,probably-damaging	642/1329,602/1302,642/1342	23548793	30,12976	2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1925G>A	14.37:g.23548793C>T	ENSP00000262710:p.Arg642His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	9	0.004120879120879121	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	4	0.005277044854881266	C	14.59	2.580077	0.46006	0.001362	0.002791	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.29917	2.39;1.55;2.39	5.05	3.18	0.36537	.	0.000000	0.40144	N	0.001165	T	0.20170	0.0485	L	0.27053	0.805	0.26413	N	0.976231	D;D;D	0.67145	0.992;0.986;0.996	P;P;P	0.51582	0.674;0.475;0.572	T	0.04440	-1.0951	10	0.59425	D	0.04	-4.3727	7.238	0.26079	0.0:0.7908:0.0:0.2092	.	642;642;602	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	H	642;602;642	ENSP00000262710:R642H;ENSP00000405677:R602H;ENSP00000451328:R642H	ENSP00000262710:R642H	R	-	2	0	ACIN1	22618633	0.984000	0.35163	0.847000	0.33407	0.542000	0.35054	0.703000	0.25646	0.669000	0.31146	-0.216000	0.12614	CGT		0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
AHNAK2	113146	mdanderson.org	37	14	105411957	105411957	+	Silent	SNP	G	G	A	rs373797895		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105411957G>A	ENST00000333244.5	-	7	9950	c.9831C>T	c.(9829-9831)gaC>gaT	p.D3277D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3277						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTCGACGTCCACCTCCA	0.612																																						.											0													110.0	81.0	90.0					14																	105411957		1923	4091	6014	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9831C>T	14.37:g.105411957G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	mdanderson.org	37	14	105411971	105411971	+	Missense_Mutation	SNP	T	T	C	rs28737397	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105411971T>C	ENST00000333244.5	-	7	9936	c.9817A>G	c.(9817-9819)Agc>Ggc	p.S3273G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3273						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCCATGCTGGGCTGAGAC	0.632													.|||	1310	0.261581	0.1369	0.3069	5008	,	,		15097	0.0843		0.4851	False		,,,				2504	0.3507					.											0								C	GLY/SER	34,3684		2,30,1827	104.0	79.0	87.0		9817	1.5	0.1	14	dbSNP_125	87	457,6761		37,383,3189	no	missense	AHNAK2	NM_138420.2	56	39,413,5016	CC,CT,TT		6.3314,0.9145,4.4898	benign	3273/5796	105411971	491,10445	1859	3609	5468	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9817A>G	14.37:g.105411971T>C	ENSP00000353114:p.Ser3273Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	222	0.10164835164835165	21	0.042682926829268296	49	0.13535911602209943	8	0.013986013986013986	144	0.18997361477572558	N	2.209	-0.381113	0.05000	0.009145	0.063314	ENSG00000185567	ENST00000333244	T	0.00682	5.86	3.87	1.45	0.22620	.	.	.	.	.	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B	0.20261	0.043	B	0.20184	0.028	T	0.33497	-0.9866	8	0.22706	T	0.39	.	6.2963	0.21087	0.0:0.2172:0.0:0.7828	rs28737397	3273	Q8IVF2	AHNK2_HUMAN	G	3273	ENSP00000353114:S3273G	ENSP00000353114:S3273G	S	-	1	0	AHNAK2	104483016	0.007000	0.16637	0.102000	0.21198	0.005000	0.04900	0.903000	0.28475	0.023000	0.15187	-0.502000	0.04539	AGC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
CYP2D6	1565	mdanderson.org	37	22	42523636	42523636	+	Splice_Site	SNP	C	C	A	rs1135831|rs3915951		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr22:42523636C>A	ENST00000360608.5	-	7	1100	c.986G>T	c.(985-987)cGc>cTc	p.R329L	NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|CYP2D6_ENST00000389970.3_Splice_Site_p.R329L|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Splice_Site_p.R278L|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	329			R -> L (in dbSNP:rs3915951).		alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.R278L(5)|p.R329L(4)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TTGGACACGGCCTGGACAGAC	0.602																																						.											9	Substitution - Missense(9)	prostate(6)|large_intestine(2)|NS(1)											73.0	56.0	62.0					22																	42523636		2201	4299	6500	SO:0001630	splice_region_variant	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.986-1G>T	22.37:g.42523636C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669463	0.47677	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.79940	-1.32;-1.32;4.99	4.93	3.91	0.45181	.	.	.	.	.	T	0.76435	0.3987	M	0.67953	2.075	0.41700	D	0.989391	B;B;B	0.15473	0.004;0.013;0.002	B;B;B	0.26693	0.013;0.072;0.013	T	0.72174	-0.4370	9	0.48119	T	0.1	.	5.5275	0.16967	0.1599:0.672:0.0:0.1681	rs3915951	329;278;329	C1ID54;Q6NXU8;Q6NWU0	.;.;.	L	329;329;275;278;278	ENSP00000353820:R329L;ENSP00000374620:R329L;ENSP00000351927:R278L	ENSP00000351927:R278L	R	-	2	0	CYP2D6	40853580	0.444000	0.25649	0.954000	0.39281	0.844000	0.47949	0.448000	0.21726	1.070000	0.40811	0.555000	0.69702	CGC		0.602	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		Missense_Mutation
DSPP	1834	mdanderson.org	37	4	88536448	88536448	+	Silent	SNP	C	C	T	rs111205175		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536448C>T	ENST00000282478.7	+	4	2667	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D878D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	878	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgacagcagtgata	0.498																																						.											0													70.0	84.0	79.0					4																	88536448		1633	2930	4563	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2634C>T	4.37:g.88536448C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
DSPP	1834	mdanderson.org	37	4	88536451	88536451	+	Silent	SNP	C	C	T	rs111205176|rs149201255		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536451C>T	ENST00000282478.7	+	4	2670	c.2637C>T	c.(2635-2637)agC>agT	p.S879S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S879S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	879	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgacagcagtgatagca	0.493																																						.											0													71.0	84.0	80.0					4																	88536451		1629	2928	4557	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2637C>T	4.37:g.88536451C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.493	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
DSPP	1834	mdanderson.org	37	4	88536457	88536457	+	Silent	SNP	T	T	C	rs141186173|rs111205177|rs199994008	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536457T>C	ENST00000282478.7	+	4	2676	c.2643T>C	c.(2641-2643)gaT>gaC	p.D881D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D881D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	881	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.D881_S882insSSD(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgatagcagtgaca	0.498																																						.											1	Insertion - In frame(1)	ovary(1)											73.0	87.0	82.0					4																	88536457		1618	2922	4540	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2643T>C	4.37:g.88536457T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
DSPP	1834	mdanderson.org	37	4	88536460	88536460	+	Silent	SNP	C	C	T	rs199691318		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:88536460C>T	ENST00000282478.7	+	4	2679	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S882S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	882	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgatagcagtgacagca	0.498																																						.											0													73.0	87.0	82.0					4																	88536460		1617	2929	4546	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2646C>T	4.37:g.88536460C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
EP400	57634	mdanderson.org	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						.											2	Substitution - coding silent(2)	kidney(2)											52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
FAM71E2	284418	mdanderson.org	37	19	55869903	55869903	+	Missense_Mutation	SNP	T	T	G	rs386811061|rs67988285|rs28712579|rs67168196	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:55869903T>G	ENST00000424985.3	-	9	2526	c.2333A>C	c.(2332-2334)cAg>cCg	p.Q778P	CTD-2105E13.6_ENST00000591954.3_Missense_Mutation_p.S328R	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	778			Missing (in dbSNP:rs35996821). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.							NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						GCCCCATGGCTGCTCCTTCAT	0.637																																						.											0													14.0	16.0	15.0					19																	55869903		674	1516	2190	SO:0001583	missense	284418			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2333A>C	19.37:g.55869903T>G	ENSP00000398617:p.Gln778Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q8ND99	Missense_Mutation	SNP	ENST00000424985.3	37		.	.	.	.	.	.	.	.	.	.	N	7.666	0.686039	0.14973	.	.	ENSG00000180043	ENST00000424985	T	0.12569	2.67	2.14	-0.739	0.11120	.	.	.	.	.	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40136	-0.9579	9	0.27082	T	0.32	.	2.8909	0.05676	0.0:0.1725:0.2597:0.5677	.	778	Q8N5Q1	F71E2_HUMAN	P	778	ENSP00000398617:Q778P	ENSP00000398617:Q778P	Q	-	2	0	FAM71E2	60561715	0.002000	0.14202	0.000000	0.03702	0.032000	0.12392	0.000000	0.12993	-0.296000	0.08947	0.000000	0.15137	CAG		0.637	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409063.4	NM_001145402	
FLVCR2	55640	mdanderson.org	37	14	76045417	76045418	+	Missense_Mutation	DNP	GG	GG	CA	rs143304751	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:76045417_76045418GG>CA	ENST00000238667.4	+	1	458_459	c.102_103GG>CA	c.(100-105)tcGGtc>tcCAtc	p.V35I	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	35	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCAGCGTCTCGGTCCATCCCAG	0.644																																						.											0																																										SO:0001583	missense	55640			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	Exception_encountered	14.37:g.76045417_76045418delinsCA	ENSP00000238667:p.Val35Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	DNP	ENST00000238667.4	37	CCDS9844.1																																																																																				0.644	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791	
HLA-DRB1	3123	mdanderson.org	37	6	32549587	32549587	+	Silent	SNP	T	T	G	rs2308761	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr6:32549587T>G	ENST00000360004.5	-	3	504	c.399A>C	c.(397-399)tcA>tcC	p.S133S		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	133	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCTGGGTCTTTGAAGGATATA	0.512										Multiple Myeloma(14;0.17)																												.											0													59.0	74.0	69.0					6																	32549587		1510	2709	4219	SO:0001819	synonymous_variant	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.399A>C	6.37:g.32549587T>G		Somatic		WXS	Illumina HiSeq	Phase_I	P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																				0.512	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124	
HSP90AA1	3320	mdanderson.org	37	14	102551272	102551272	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:102551272C>T	ENST00000216281.8	-	5	932	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E365K|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E64K	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	243					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	tctttttcttcttctttgtct	0.388																																						.											0													53.0	50.0	51.0					14																	102551272		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.727G>A	14.37:g.102551272C>T	ENSP00000216281:p.Glu243Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	11.94	1.788323	0.31593	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	3.73	3.73	0.42828	.	0.841759	0.10114	N	0.714232	T	0.42854	0.1221	L	0.37466	1.105	0.42720	D	0.993678	B;B;B	0.11235	0.0;0.004;0.001	B;B;B	0.13407	0.004;0.009;0.004	T	0.17806	-1.0357	10	0.21014	T	0.42	-20.443	11.761	0.51903	0.0:1.0:0.0:0.0	.	64;365;243	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	K	243;365;64;174	ENSP00000216281:E243K;ENSP00000335153:E365K;ENSP00000396189:E64K;ENSP00000450712:E174K	ENSP00000216281:E243K	E	-	1	0	HSP90AA1	101621025	0.901000	0.30685	0.981000	0.43875	0.591000	0.36615	2.204000	0.42761	2.040000	0.60383	0.591000	0.81541	GAA		0.388	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348	
KIR3DL1	3811	mdanderson.org	37	19	55324635	55324635	+	Intron	SNP	T	T	C	rs649216	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:55324635T>C	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000396284.2_Silent_p.F252F|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000359085.4_Silent_p.F254F|KIR2DL4_ENST00000357494.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000463062.1_3'UTR			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.F254F(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCATCCTCTTTACCATCCTTC	0.502													c|||	2958	0.590655	0.6528	0.5605	5008	,	,		6076	0.8056		0.4871	False		,,,				2504	0.4131					.											2	Substitution - coding silent(2)	prostate(2)											121.0	187.0	166.0					19																	55324635		1991	4152	6143	SO:0001627	intron_variant	3805			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4354T>C	19.37:g.55324635T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37																																																																																					0.502	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289	
KRTAP10-2	386679	mdanderson.org	37	21	45970772	45970772	+	Silent	SNP	A	A	G	rs76021731|rs67692969|rs71199610	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr21:45970772A>G	ENST00000391621.1	-	1	616	c.570T>C	c.(568-570)ccT>ccC	p.P190P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGCAGCAGACAGGCTTGCAGC	0.607																																						.											0													111.0	112.0	112.0					21																	45970772		2192	4282	6474	SO:0001819	synonymous_variant	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.570T>C	21.37:g.45970772A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																				0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1		
KRTAP10-2	386679	mdanderson.org	37	21	45970774	45970774	+	Missense_Mutation	SNP	G	G	A	rs76536096|rs67692969|rs71199610	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr21:45970774G>A	ENST00000391621.1	-	1	614	c.568C>T	c.(568-570)Cct>Tct	p.P190S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGCAGACAGGCTTGCAGCAG	0.607																																						.											0													110.0	112.0	111.0					21																	45970774		2192	4279	6471	SO:0001583	missense	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.568C>T	21.37:g.45970774G>A	ENSP00000375479:p.Pro190Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	9.523	1.108901	0.20714	.	.	ENSG00000205445	ENST00000391621	T	0.01705	4.68	3.28	0.222	0.15288	.	.	.	.	.	T	0.02083	0.0065	L	0.49455	1.56	0.09310	N	1	B	0.26672	0.156	B	0.24394	0.053	T	0.42310	-0.9459	9	0.62326	D	0.03	.	4.9369	0.13944	0.2108:0.1755:0.6137:0.0	.	190	P60368	KR102_HUMAN	S	190	ENSP00000375479:P190S	ENSP00000375479:P190S	P	-	1	0	KRTAP10-2	44795202	0.105000	0.21958	0.000000	0.03702	0.002000	0.02628	1.284000	0.33249	-0.177000	0.10690	0.462000	0.41574	CCT		0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1		
KRTAP5-8	57830	mdanderson.org	37	11	71249605	71249605	+	Silent	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:71249605C>T	ENST00000398534.3	+	1	535	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	168	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CCAGCTGCTGCAAGCCCTGCT	0.592																																						.											0													134.0	144.0	141.0					11																	71249605		2200	4294	6494	SO:0001819	synonymous_variant	57830			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.504C>T	11.37:g.71249605C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																				0.592	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046	
LURAP1L	286343	mdanderson.org	37	9	12775889	12775889	+	Missense_Mutation	SNP	A	A	G	rs3750501	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:12775889A>G	ENST00000319264.3	+	1	870	c.175A>G	c.(175-177)Agc>Ggc	p.S59G	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	62	Gly-rich.																ctgcagtagcagcagcagcTA	0.697													A|||	3412	0.68131	0.4947	0.8372	5008	,	,		10003	0.7679		0.8241	False		,,,				2504	0.5869					.											0													6.0	5.0	5.0					9																	12775889		1946	3629	5575	SO:0001583	missense	286343			AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.175A>G	9.37:g.12775889A>G	ENSP00000321026:p.Ser59Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	CCDS6473.1	1604	0.7344322344322345	244	0.4959349593495935	298	0.8232044198895028	440	0.7692307692307693	622	0.820580474934037	A	10.39	1.336728	0.24253	.	.	ENSG00000153714	ENST00000319264	T	0.48522	0.81	5.19	1.22	0.21188	.	1.487020	0.03885	N	0.277674	T	0.00012	0.0000	N	0.22421	0.69	0.44117	P	0.003106000000000053	B	0.09022	0.002	B	0.09377	0.004	T	0.38156	-0.9674	9	0.12430	T	0.62	.	4.2654	0.10761	0.5757:0.1693:0.255:0.0	rs3750501	62	Q8IV03	CI150_HUMAN	G	59	ENSP00000321026:S59G	ENSP00000321026:S59G	S	+	1	0	C9orf150	12765889	0.840000	0.29493	0.997000	0.53966	0.601000	0.36947	1.087000	0.30865	0.824000	0.34613	-0.381000	0.06696	AGC		0.697	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403	
MTX1	4580	mdanderson.org	37	1	155178782	155178782	+	Missense_Mutation	SNP	A	A	T	rs760077	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:155178782A>T	ENST00000368376.3	+	1	293	c.187A>T	c.(187-189)Act>Tct	p.T63S	RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000541990.1_5'Flank|THBS3_ENST00000457183.2_5'Flank|MTX1_ENST00000316721.4_Missense_Mutation_p.T63S|MTX1_ENST00000609421.1_5'Flank|THBS3_ENST00000368378.3_5'Flank|THBS3_ENST00000486260.1_5'UTR	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	63			T -> S (in dbSNP:rs760077). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGCCGTGACACTCCGAGGCG	0.761													T|||	3339	0.666733	0.6331	0.7608	5008	,	,		8727	0.7738		0.6054	False		,,,				2504	0.5982					.											0								T	SER/THR,SER/THR	2914,1394		1026,862,266	7.0	11.0	10.0		187,187	-2.4	0.0	1	dbSNP_86	10	5140,3348		1612,1916,716	yes	missense,missense	MTX1	NM_002455.3,NM_198883.2	58,58	2638,2778,982	TT,TA,AA		39.4439,32.3584,37.0585	benign,benign	63/467,63/436	155178782	8054,4742	2154	4244	6398	SO:0001583	missense	4580				CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.187A>T	1.37:g.155178782A>T	ENSP00000357360:p.Thr63Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	CCDS1100.1	1515	0.6936813186813187	314	0.6382113821138211	252	0.6961325966850829	474	0.8286713286713286	475	0.6266490765171504	T	10.85	1.466570	0.26335	0.676416	0.605561	ENSG00000173171	ENST00000368376;ENST00000316721	T;T	0.27890	1.64;1.64	4.25	-2.39	0.06602	.	0.398228	0.18519	N	0.138831	T	0.01320	0.0043	N	0.01168	-0.975	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22591	-1.0212	9	0.02654	T	1	-7.2218	0.3438	0.00338	0.2917:0.2744:0.1499:0.2841	rs760077;rs57404131	63;63	Q13505-2;Q13505	.;MTX1_HUMAN	S	63	ENSP00000357360:T63S;ENSP00000317106:T63S	ENSP00000317106:T63S	T	+	1	0	MTX1	153445406	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	-0.293000	0.08320	-0.656000	0.05380	-0.257000	0.10917	ACT		0.761	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883	
MUC16	94025	mdanderson.org	37	19	9005616	9005616	+	Missense_Mutation	SNP	G	G	T	rs78831402		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:9005616G>T	ENST00000397910.4	-	46	39993	c.39790C>A	c.(39790-39792)Cac>Aac	p.H13264N	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13266	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGCTGTGGGTCAGCTGG	0.562																																						.											0													168.0	152.0	157.0					19																	9005616		2047	4181	6228	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39790C>A	19.37:g.9005616G>T	ENSP00000381008:p.His13264Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.713	-0.268436	0.05716	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.35605	1.3	3.14	0.596	0.17496	SEA (1);	.	.	.	.	T	0.40645	0.1125	.	.	.	.	.	.	B;P	0.39044	0.001;0.656	B;P	0.48627	0.005;0.584	T	0.53837	-0.8382	7	0.87932	D	0	-0.3413	7.148	0.25593	0.0:0.0:0.5152:0.4848	.	20909;13264	Q8WXI7;B5ME49	MUC16_HUMAN;.	N	13264;395	ENSP00000381008:H13264N	ENSP00000381008:H13264N	H	-	1	0	MUC16	8866616	0.001000	0.12720	0.028000	0.17463	0.040000	0.13550	0.565000	0.23578	0.601000	0.29879	-0.373000	0.07131	CAC		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	mdanderson.org	37	19	9018508	9018508	+	Missense_Mutation	SNP	T	T	G	rs74488264		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:9018508T>G	ENST00000397910.4	-	24	37869	c.37666A>C	c.(37666-37668)Aag>Cag	p.K12556Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12558	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTCATACTTCAGGTTGGTG	0.512																																						.											0													234.0	198.0	209.0					19																	9018508		1978	4180	6158	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37666A>C	19.37:g.9018508T>G	ENSP00000381008:p.Lys12556Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.033	0.762173	0.15914	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	2.01	-4.02	0.04034	.	.	.	.	.	T	0.05547	0.0146	N	0.00138	-2.015	.	.	.	B	0.20052	0.041	B	0.09377	0.004	T	0.32534	-0.9903	8	0.87932	D	0	.	2.4995	0.04630	0.3117:0.0:0.2615:0.4268	.	12556	B5ME49	.	Q	12556	ENSP00000381008:K12556Q	ENSP00000381008:K12556Q	K	-	1	0	MUC16	8879508	0.000000	0.05858	0.008000	0.14137	0.336000	0.28762	-1.612000	0.02061	-0.971000	0.03564	0.164000	0.16699	AAG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC6	4588	mdanderson.org	37	11	1016606	1016606	+	Silent	SNP	T	T	C	rs148905794		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:1016606T>C	ENST00000421673.2	-	31	6245	c.6195A>G	c.(6193-6195)acA>acG	p.T2065T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2065	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGGTCACTGTCATTGGTG	0.572																																						.											0													242.0	260.0	254.0					11																	1016606		2181	4269	6450	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6195A>G	11.37:g.1016606T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
NCOA3	8202	mdanderson.org	37	20	46279863	46279863	+	Silent	SNP	G	G	A	rs578139784|rs112826888|rs573532891	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr20:46279863G>A	ENST00000371998.3	+	20	3980	c.3789G>A	c.(3787-3789)caG>caA	p.Q1263Q	NCOA3_ENST00000341724.6_Silent_p.Q1189Q|NCOA3_ENST00000372004.3_Silent_p.Q1259Q|NCOA3_ENST00000371997.3_Silent_p.Q1254Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1263	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcaac	0.567													G|||	14	0.00279553	0.0076	0.0014	5008	,	,		14322	0.003		0.0	False		,,,				2504	0.0					.											0													58.0	62.0	60.0					20																	46279863		2203	4300	6503	SO:0001819	synonymous_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3789G>A	20.37:g.46279863G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
NRD1	4898	mdanderson.org	37	1	52306079	52306079	+	Missense_Mutation	SNP	T	T	A	rs62648104		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:52306079T>A	ENST00000354831.7	-	2	638	c.449A>T	c.(448-450)gAg>gTg	p.E150V	NRD1_ENST00000544028.1_Missense_Mutation_p.E18V|NRD1_ENST00000352171.7_Missense_Mutation_p.E150V|NRD1_ENST00000539524.1_Missense_Mutation_p.E18V|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ttcttcttcctccacctcctc	0.378																																						.											0													163.0	138.0	146.0					1																	52306079		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.449A>T	1.37:g.52306079T>A	ENSP00000346890:p.Glu150Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	3.056	-0.194350	0.06259	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.38240	1.31;3.15;1.15;1.22	5.25	2.92	0.33932	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.525899	0.19688	N	0.108344	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23650	0.062;0.089;0.01	B;B;B	0.17098	0.017;0.007;0.007	T	0.14755	-1.0461	10	0.38643	T	0.18	-0.0317	5.1939	0.15225	0.0:0.1704:0.2022:0.6274	rs62648104	150;150;150	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	V	150;150;18;150;18	ENSP00000262679:E150V;ENSP00000346890:E150V;ENSP00000444416:E18V;ENSP00000442262:E18V	ENSP00000262679:E150V	E	-	2	0	NRD1	52078667	0.129000	0.22400	0.012000	0.15200	0.145000	0.21501	0.870000	0.28010	0.317000	0.23160	0.454000	0.30748	GAG		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
PRLHR	2834	mdanderson.org	37	10	120353899	120353899	+	Silent	SNP	C	C	A	rs116062593	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:120353899C>A	ENST00000369169.1	-	1	857	c.858G>T	c.(856-858)gtG>gtT	p.V286V	PRLHR_ENST00000239032.2_Silent_p.V286V			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	286					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGACGGCGAACACCACCACGA	0.692													C|||	71	0.0141773	0.0144	0.0058	5008	,	,		15832	0.0		0.0139	False		,,,				2504	0.0348					.											0								C		41,4361		0,41,2160	30.0	33.0	32.0		858	2.4	1.0	10	dbSNP_132	32	115,8467		0,115,4176	no	coding-synonymous	PRLHR	NM_004248.2		0,156,6336	AA,AC,CC		1.34,0.9314,1.2015		286/371	120353899	156,12828	2201	4291	6492	SO:0001819	synonymous_variant	2834			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.858G>T	10.37:g.120353899C>A		Somatic		WXS	Illumina HiSeq	Phase_I	O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	CCDS7606.1																																																																																				0.692	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248	
PRSS3	5646	mdanderson.org	37	9	33794840	33794840	+	Intron	SNP	G	G	A	rs10117993	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:33794840G>A	ENST00000361005.5	+	2	211				PRSS3_ENST00000429677.3_Intron|PRSS3_ENST00000342836.4_Silent_p.A17A|PRSS3_ENST00000379405.3_5'Flank|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GGAGGAGTGCGCCATTGGTTT	0.498													G|||	318	0.0634984	0.2337	0.013	5008	,	,		20986	0.0		0.0	False		,,,				2504	0.0					.											0																																										SO:0001627	intron_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1801G>A	9.37:g.33794840G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.498	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	
RBM23	55147	mdanderson.org	37	14	23371268	23371268	+	Silent	SNP	A	A	G	rs56708790	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:23371268A>G	ENST00000359890.3	-	12	1362	c.1167T>C	c.(1165-1167)gcT>gcC	p.A389A	RBM23_ENST00000555209.1_Silent_p.A139A|RBM23_ENST00000346528.5_Silent_p.A355A|RBM23_ENST00000399922.2_Silent_p.A373A|RBM23_ENST00000542016.2_Silent_p.A219A	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	389	Ala-rich.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		cggcggcggcagcagcagcag	0.552													A|||	195	0.0389377	0.0053	0.0778	5008	,	,		16698	0.0179		0.0676	False		,,,				2504	0.0491					.											0								A	,,	54,3898		1,52,1923	34.0	35.0	35.0		1167,1065,1119	-2.4	0.4	14	dbSNP_129	35	529,7793		7,515,3639	yes	coding-synonymous,coding-synonymous,coding-synonymous	RBM23	NM_001077351.1,NM_001077352.1,NM_018107.4	,,	8,567,5562	GG,GA,AA		6.3566,1.3664,4.7499	,,	389/440,355/406,373/424	23371268	583,11691	1976	4161	6137	SO:0001819	synonymous_variant	55147			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1167T>C	14.37:g.23371268A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Silent	SNP	ENST00000359890.3	37	CCDS41921.1	252	0.11538461538461539	8	0.016260162601626018	50	0.13812154696132597	73	0.12762237762237763	121	0.15963060686015831	A	0.768	-0.766868	0.02974	0.013664	0.063566	ENSG00000100461	ENST00000553884	.	.	.	3.36	-2.38	0.06622	.	.	.	.	.	T	0.00300	0.0009	.	.	.	0.53005	D	0.999961	.	.	.	.	.	.	T	0.04294	-1.0962	4	.	.	.	.	8.3885	0.32514	0.37:0.0:0.63:0.0	rs56708790;rs61730800	.	.	.	R	164	.	.	C	-	1	0	RBM23	22441108	0.115000	0.22152	0.443000	0.26883	0.195000	0.23768	0.047000	0.14056	-0.453000	0.07076	0.402000	0.26972	TGC		0.552	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3		
RRP7A	27341	mdanderson.org	37	22	42910760	42910760	+	Silent	SNP	A	A	G	rs28430278	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr22:42910760A>G	ENST00000323013.6	-	5	501	c.486T>C	c.(484-486)tcT>tcC	p.S162S	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	162							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GGTCGGGCACAGAGTCTGCGT	0.647													A|||	129	0.0257588	0.0817	0.013	5008	,	,		21046	0.005		0.005	False		,,,				2504	0.002					.											0													40.0	43.0	42.0					22																	42910760		2201	4299	6500	SO:0001819	synonymous_variant	27341			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.486T>C	22.37:g.42910760A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	ENST00000323013.6	37	CCDS14036.1																																																																																				0.647	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703	
FAM171A1	221061	bcgsc.ca	37	10	15254967	15254967	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:15254967T>C	ENST00000378116.4	-	8	2626	c.2620A>G	c.(2620-2622)Agc>Ggc	p.S874G	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	874						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGCCAGGGGCTTTTCTTGTCT	0.527																																						.											0													145.0	143.0	144.0					10																	15254967		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2620A>G	10.37:g.15254967T>C	ENSP00000367356:p.Ser874Gly	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045416	0.75846	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.40225	1.04	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.69221	-0.5202	10	0.72032	D	0.01	-27.741	15.0682	0.72014	0.0:0.0:0.0:1.0	.	874	Q5VUB5	F1711_HUMAN	G	874;873	ENSP00000367356:S874G	ENSP00000367356:S874G	S	-	1	0	FAM171A1	15294973	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.843000	0.86859	2.137000	0.66172	0.460000	0.39030	AGC		0.527	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709	
MTA1	9112	bcgsc.ca	37	14	105932850	105932850	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105932850T>C	ENST00000331320.7	+	17	1926	c.1712T>C	c.(1711-1713)gTc>gCc	p.V571A	RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Missense_Mutation_p.V571A|MTA1_ENST00000435036.2_Missense_Mutation_p.V107A|MTA1_ENST00000405646.1_Missense_Mutation_p.V554A	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	571					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTGGCCCCCGTCATCAACAAC	0.697																																						.											0													17.0	19.0	18.0					14																	105932850		2178	4275	6453	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1712T>C	14.37:g.105932850T>C	ENSP00000333633:p.Val571Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.735576	0.30774	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036	T;T;T;T;T	0.44881	1.5;1.57;1.49;1.49;0.91	5.12	5.12	0.69794	.	0.152498	0.45361	D	0.000378	T	0.29914	0.0748	L	0.29908	0.895	0.49389	D	0.999785	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.09122	-1.0689	10	0.15952	T	0.53	-42.1318	12.8585	0.57899	0.0:0.0:0.0:1.0	.	363;571	Q59FW1;Q13330	.;MTA1_HUMAN	A	480;571;571;554;363;107	ENSP00000333633:V571A;ENSP00000385702:V571A;ENSP00000384180:V554A;ENSP00000394106:V363A;ENSP00000389425:V107A	ENSP00000333633:V571A	V	+	2	0	MTA1	105003895	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	4.901000	0.63259	1.930000	0.55929	0.459000	0.35465	GTC		0.697	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15		
FHOD1	29109	bcgsc.ca	37	16	67271285	67271285	+	Splice_Site	SNP	T	T	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr16:67271285T>C	ENST00000258201.4	-	9	1097	c.850A>G	c.(850-852)Acg>Gcg	p.T284A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	284	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCCGCCAGCGTCTGGAGGGCG	0.647																																						.											0													53.0	55.0	54.0					16																	67271285		2198	4300	6498	SO:0001630	splice_region_variant	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.850-1A>G	16.37:g.67271285T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315632	0.60524	.	.	ENSG00000135723	ENST00000258201	T	0.24908	1.83	5.36	5.36	0.76844	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.111140	0.64402	D	0.000014	T	0.45736	0.1357	L	0.52905	1.665	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.37244	-0.9714	10	0.54805	T	0.06	.	14.4938	0.67670	0.0:0.0:0.0:1.0	.	284	Q9Y613	FHOD1_HUMAN	A	284	ENSP00000258201:T284A	ENSP00000258201:T284A	T	-	1	0	FHOD1	65828786	1.000000	0.71417	0.985000	0.45067	0.224000	0.24922	6.173000	0.71937	2.154000	0.67381	0.533000	0.62120	ACG		0.647	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2		Missense_Mutation
TANGO6	79613	bcgsc.ca	37	16	68961955	68961955	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr16:68961955A>G	ENST00000261778.1	+	13	2624	c.2612A>G	c.(2611-2613)aAa>aGa	p.K871R	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	871						integral component of membrane (GO:0016021)											AGAGAAGCAAAAGCCCTTGAG	0.483																																						.											0													31.0	29.0	30.0					16																	68961955		1898	4138	6036	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2612A>G	16.37:g.68961955A>G	ENSP00000261778:p.Lys871Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475124	0.26511	.	.	ENSG00000103047	ENST00000261778	T	0.64991	-0.13	5.37	3.02	0.34903	Armadillo-like helical (1);Armadillo-type fold (1);	0.443179	0.27433	N	0.019385	T	0.30854	0.0778	N	0.04508	-0.205	0.23336	N	0.997886	B	0.02656	0.0	B	0.04013	0.001	T	0.14504	-1.0470	10	0.13853	T	0.58	-3.9361	3.9605	0.09409	0.6643:0.0:0.1851:0.1506	.	871	Q9C0B7	TMCO7_HUMAN	R	871	ENSP00000261778:K871R	ENSP00000261778:K871R	K	+	2	0	TMCO7	67519456	0.127000	0.22367	0.584000	0.28653	0.998000	0.95712	1.029000	0.30140	0.317000	0.23160	0.533000	0.62120	AAA		0.483	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2	
TCEB3C	162699	bcgsc.ca	37	18	44555147	44555147	+	Missense_Mutation	SNP	T	T	G	rs139717358	byFrequency	TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr18:44555147T>G	ENST00000330682.2	-	1	1302	c.1067A>C	c.(1066-1068)gAa>gCa	p.E356A	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	356	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGGGACCCCTTCCACGTCGCC	0.647																																						.											0								T	,ALA/GLU	71,3171		0,71,1550	233.0	223.0	226.0		,1067	-1.6	0.0	18	dbSNP_134	226	595,6065		0,595,2735	no	intron,missense	KATNAL2,TCEB3C	NM_031303.2,NM_145653.3	,107	0,666,4285	GG,GT,TT		8.9339,2.19,6.7259	,benign	,356/547	44555147	666,9236	1621	3330	4951	SO:0001583	missense	162699			AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1067A>C	18.37:g.44555147T>G	ENSP00000328232:p.Glu356Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000330682.2	37	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	t	5.286	0.238258	0.10023	0.0219	0.089339	ENSG00000183791	ENST00000330682	T	0.29397	1.57	1.6	-1.61	0.08399	.	0.408249	0.20310	N	0.094854	T	0.00580	0.0019	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.10382	-1.0632	10	0.62326	D	0.03	-1.0576	6.2705	0.20951	0.0:0.6512:0.0:0.3488	.	356	Q8NG57	ELOA3_HUMAN	A	356	ENSP00000328232:E356A	ENSP00000328232:E356A	E	-	2	0	TCEB3C	42809145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.045000	0.12003	-0.528000	0.06366	-1.744000	0.00683	GAA		0.647	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653	
ZNF814	730051	bcgsc.ca	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					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)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																						.											2	Substitution - Missense(2)	prostate(2)											58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051				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.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
NOBOX	135935	bcgsc.ca	37	7	144096937	144096937	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:144096937C>T	ENST00000467773.1	-	6	1066	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	NOBOX_ENST00000483238.1_Missense_Mutation_p.R324Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.R239Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	356					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCACTTGGCCCGGCGATTCTG	0.542																																						.											0													78.0	82.0	80.0					7																	144096937		1955	4150	6105	SO:0001583	missense	135935					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1067G>A	7.37:g.144096937C>T	ENSP00000419457:p.Arg356Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.544899	0.86022	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.99298	-5.48;-5.71;-5.48	5.55	4.67	0.58626	Homeodomain-related (1);Homeobox (2);	0.324668	0.29987	N	0.010695	D	0.99510	0.9825	M	0.93241	3.395	0.32825	D	0.503226	D	0.89917	1.0	D	0.91635	0.999	D	0.98597	1.0657	10	0.87932	D	0	-35.0972	12.3015	0.54876	0.0:0.918:0.0:0.082	.	356	O60393	NOBOX_HUMAN	Q	324;356;239;113	ENSP00000419565:R324Q;ENSP00000419457:R356Q;ENSP00000223140:R239Q	ENSP00000223140:R239Q	R	-	2	0	NOBOX	143727870	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	5.277000	0.65586	1.352000	0.45808	0.650000	0.86243	CGG		0.542	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	
PCMTD1	115294	bcgsc.ca	37	8	52733143	52733143	+	Missense_Mutation	SNP	A	A	G	rs111785933		TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr8:52733143A>G	ENST00000360540.5	-	7	1248	c.842T>C	c.(841-843)gTt>gCt	p.V281A	PCMTD1_ENST00000544451.1_Missense_Mutation_p.V205A|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.V281A	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	281						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTCTGTTTAACTCTCTTTCT	0.393																																						.											0													172.0	174.0	174.0					8																	52733143		2203	4300	6503	SO:0001583	missense	115294				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.842T>C	8.37:g.52733143A>G	ENSP00000353739:p.Val281Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	4.043	0.005592	0.07866	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.46063	0.88;0.88;0.88	5.97	4.75	0.60458	.	0.260164	0.36972	N	0.002316	T	0.32556	0.0833	L	0.42245	1.32	0.29355	N	0.865105	B;B;B	0.18863	0.009;0.008;0.031	B;B;B	0.18263	0.015;0.005;0.021	T	0.15780	-1.0425	10	0.15066	T	0.55	-33.7683	11.4736	0.50284	0.6809:0.3191:0.0:0.0	.	151;205;281	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	A	281;205;281	ENSP00000353739:V281A;ENSP00000444026:V205A;ENSP00000428099:V281A	ENSP00000353739:V281A	V	-	2	0	PCMTD1	52895696	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.794000	0.69067	2.281000	0.76405	0.533000	0.62120	GTT		0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
SYK	6850	bcgsc.ca	37	9	93650875	93650875	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:93650875A>G	ENST00000375754.4	+	13	1949	c.1801A>G	c.(1801-1803)Atg>Gtg	p.M601V	SYK_ENST00000375746.1_Missense_Mutation_p.M601V|SYK_ENST00000375751.4_Missense_Mutation_p.M578V|SYK_ENST00000375747.1_Missense_Mutation_p.M578V	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCCAAGAGAGATGTACGATCT	0.488			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	.		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0													126.0	102.0	110.0					9																	93650875		2203	4300	6503	SO:0001583	missense	6850			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1801A>G	9.37:g.93650875A>G	ENSP00000364907:p.Met601Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000375754.4	37	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	A	9.236	1.037182	0.19669	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.22	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.084773	0.85682	D	0.000000	T	0.49490	0.1560	N	0.01473	-0.845	0.58432	D	0.999994	B;B	0.13594	0.004;0.008	B;B	0.15870	0.008;0.014	T	0.49476	-0.8936	10	0.10111	T	0.7	.	6.6524	0.22969	0.8219:0.0:0.1781:0.0	.	578;601	P43405-2;P43405	.;KSYK_HUMAN	V	601;578;578;601	ENSP00000364907:M601V;ENSP00000364904:M578V;ENSP00000364899:M578V;ENSP00000364898:M601V	ENSP00000364898:M601V	M	+	1	0	SYK	92690696	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	2.699000	0.47077	2.082000	0.62665	0.455000	0.32223	ATG		0.488	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1		
UPP1	7378	bcgsc.ca	37	7	48147911	48147912	+	Frame_Shift_Ins	INS	-	-	GGCT			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:48147911_48147912insGGCT	ENST00000331803.4	+	10	1513_1514	c.890_891insGGCT	c.(889-894)cggctgfs	p.L298fs	UPP1_ENST00000395564.4_Frame_Shift_Ins_p.L298fs|UPP1_ENST00000341253.4_Frame_Shift_Ins_p.L298fs|UPP1_ENST00000429491.2_Frame_Shift_Ins_p.L161fs|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	298					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.R297Q(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AGGCCGCAGCGGCTGGTGAGCT	0.599																																						.											1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	7378			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	Exception_encountered	7.37:g.48147911_48147912insGGCT	ENSP00000330032:p.Leu298fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVM4|Q15362	Frame_Shift_Ins	INS	ENST00000331803.4	37	CCDS5507.1																																																																																				0.599	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364	
