#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ASMTL	8623	hgsc.bcm.edu	37	X	1537002	1537002	+	Silent	SNP	C	C	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chrX:1537002C>G	ENST00000381317.3	-	11	1418	c.1386G>C	c.(1384-1386)acG>acC	p.T462T	ASMTL_ENST00000416733.2_Silent_p.T386T|ASMTL_ENST00000381333.4_Silent_p.T446T|ASMTL_ENST00000534940.1_Silent_p.T404T	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	462	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGTGCACCCGTGCAGCCTG	0.582													c|||	3352	0.669329	0.3699	0.7161	5008	,	,		19444	0.8294		0.6859	False		,,,				2504	0.8589																0									,,	1770,2444		379,1012,716	82.0	99.0	93.0		1212,1338,1386	-2.9	0.5	X		93	5876,2566		2051,1774,396	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	2430,2786,1112	GG,GC,CC		30.3956,42.0028,39.586	,,	404/564,446/606,462/622	1537002	7646,5010	2107	4221	6328	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1386G>C	X.37:g.1537002C>G		Somatic		WXS	SOLID	Phase_I	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	CCDS43917.1																																																																																				0.582	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1		NM_004192	
C11orf85	283129	hgsc.bcm.edu	37	11	64717341	64717341	+	Splice_Site	SNP	C	C	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr11:64717341C>T	ENST00000301896.5	-	6	297		c.e6-1		C11orf85_ENST00000536065.1_Splice_Site|C11orf85_ENST00000432175.1_Splice_Site|C11orf85_ENST00000530444.1_Intron	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85											breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTGCTTTTATCTGGAAAATGG	0.413																																																	0													103.0	103.0	103.0					11																	64717341		2201	4297	6498	SO:0001630	splice_region_variant	283129			AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.224-1G>A	11.37:g.64717341C>T		Somatic		WXS	SOLID	Phase_I	B3KS99	Splice_Site	SNP	ENST00000301896.5	37	CCDS31603.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975518	0.74360	.	.	ENSG00000168070	ENST00000301896;ENST00000432175	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8361	0.85957	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C11orf85	64473917	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.246000	0.65411	2.659000	0.90383	0.644000	0.83932	.		0.413	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385477.1		NM_001037225	Intron
TTC6	319089	hgsc.bcm.edu	37	14	38293080	38293080	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr14:38293080A>T	ENST00000476979.1	+	9	1081	c.794A>T	c.(793-795)cAa>cTa	p.Q265L	TTC6_ENST00000267368.7_Missense_Mutation_p.Q265L|TTC6_ENST00000553443.1_Missense_Mutation_p.Q1631L|TTC6_ENST00000382320.3_Missense_Mutation_p.Q345L			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	265										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GCCACCAAGCAAGCACAGAAA	0.368																																																	0													128.0	119.0	122.0					14																	38293080		2203	4300	6503	SO:0001583	missense	0			BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.794A>T	14.37:g.38293080A>T	ENSP00000417788:p.Gln265Leu	Somatic		WXS	SOLID	Phase_I	Q3SY88|Q96CE6	Missense_Mutation	SNP	ENST00000476979.1	37		.	.	.	.	.	.	.	.	.	.	A	1.293	-0.607189	0.03717	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368;ENST00000382320	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	6.17	5.03	0.67393	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.208574	0.42053	D	0.000771	T	0.46288	0.1385	L	0.31804	0.96	0.36945	D	0.892566	B;B	0.31459	0.167;0.324	B;B	0.35114	0.196;0.129	T	0.56469	-0.7974	9	0.30854	T	0.27	-0.8047	10.8734	0.46896	0.9286:0.0:0.0714:0.0	.	1631;265	G3V3A5;Q86TZ1	.;TTC6_HUMAN	L	1631;265;265;345	ENSP00000451131:Q1631L;ENSP00000417788:Q265L;ENSP00000267368:Q265L;ENSP00000371757:Q345L	ENSP00000267368:Q265L	Q	+	2	0	TTC6	37362831	0.958000	0.32768	0.920000	0.36463	0.271000	0.26615	1.968000	0.40500	1.147000	0.42369	-0.290000	0.09829	CAA		0.368	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2		XM_002343299	
CHD5	26038	hgsc.bcm.edu;ucsc.edu	37	1	6228284	6228284	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr1:6228284C>T	ENST00000262450.3	-	2	232	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	CHD5_ENST00000378021.1_De_novo_Start_InFrame	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0	Interaction with ASNA1/TRC40.				tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V45M(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAAGGCTCACGGGCTCCACA	0.512																																																	1	Substitution - Missense(1)	breast(1)											165.0	166.0	166.0					1																	6228284		2203	4300	6503	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.133G>A	1.37:g.6228284C>T	ENSP00000262450:p.Val45Met	Somatic		WXS	SOLID	Phase_I	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873609	0.51695	.	.	ENSG00000116254	ENST00000262450	D	0.90504	-2.68	4.9	0.667	0.17907	.	0.437881	0.14928	U	0.290260	D	0.83138	0.5189	L	0.40543	1.245	0.53688	D	0.999976	B	0.21071	0.051	B	0.14023	0.01	T	0.72734	-0.4204	10	0.46703	T	0.11	-16.9959	5.2688	0.15613	0.0:0.491:0.3251:0.1839	.	45	Q8TDI0	CHD5_HUMAN	M	45	ENSP00000262450:V45M	ENSP00000262450:V45M	V	-	1	0	CHD5	6150871	0.059000	0.20769	0.800000	0.32199	0.934000	0.57294	0.075000	0.14686	0.076000	0.16826	0.313000	0.20887	GTG		0.512	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557	
CIITA	4261	hgsc.bcm.edu;ucsc.edu	37	16	10997702	10997702	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr16:10997702A>T	ENST00000324288.8	+	9	1020	c.887A>T	c.(886-888)gAc>gTc	p.D296V	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.D247V	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	296					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCAGCCACTGACCTGCCCAGC	0.622			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													110.0	99.0	103.0					16																	10997702		2197	4300	6497	SO:0001583	missense	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.887A>T	16.37:g.10997702A>T	ENSP00000316328:p.Asp296Val	Somatic		WXS	SOLID	Phase_I	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110106	0.56398	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.74737	-0.87;0.82	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000020	D	0.84465	0.5478	M	0.74258	2.255	0.50171	D	0.999858	D;D;P;D;P;D	0.76494	0.999;0.982;0.864;0.995;0.916;0.997	D;P;P;D;P;D	0.72982	0.979;0.642;0.452;0.92;0.721;0.921	D	0.86122	0.1569	10	0.72032	D	0.01	.	11.937	0.52878	1.0:0.0:0.0:0.0	.	296;247;296;296;248;296	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	V	296;247;248;296	ENSP00000316328:D296V;ENSP00000371257:D247V	ENSP00000316328:D296V	D	+	2	0	CIITA	10905203	1.000000	0.71417	0.988000	0.46212	0.759000	0.43091	3.920000	0.56446	2.076000	0.62316	0.533000	0.62120	GAC		0.622	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2		NM_000246	
DLEC1	9940	hgsc.bcm.edu	37	3	38139284	38139284	+	Missense_Mutation	SNP	G	G	C	rs183009787|rs34757481		TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr3:38139284G>C	ENST00000308059.6	+	18	2636	c.2615G>C	c.(2614-2616)cGc>cCc	p.R872P	DLEC1_ENST00000346219.3_Missense_Mutation_p.R872P|DLEC1_ENST00000452631.2_Missense_Mutation_p.R872P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGTCTGCTCCGCCTGGGGCAG	0.617																																																	0													63.0	70.0	68.0					3																	38139284		2109	4214	6323	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2615G>C	3.37:g.38139284G>C	ENSP00000308597:p.Arg872Pro	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999286	0.74818	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05258	3.48;3.47;3.71	5.16	4.28	0.50868	.	0.182425	0.36268	N	0.002686	T	0.15955	0.0384	M	0.71581	2.175	0.32399	N	0.55217	D;D;D	0.71674	0.996;0.998;0.996	P;P;P	0.61132	0.844;0.884;0.844	T	0.12630	-1.0540	10	0.30854	T	0.27	-17.4076	6.6353	0.22879	0.0911:0.0:0.7292:0.1798	.	872;872;872	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	P	872	ENSP00000308597:R872P;ENSP00000315914:R872P;ENSP00000410427:R872P	ENSP00000308597:R872P	R	+	2	0	DLEC1	38114288	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	2.503000	0.45407	1.153000	0.42468	0.462000	0.41574	CGC		0.617	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3		NM_007337	
FAM153C	653316	hgsc.bcm.edu	37	5	177473898	177473899	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr5:177473898_177473899delCT	ENST00000507848.1	+	10	500_501	c.299_300delCT	c.(298-300)cctfs	p.P100fs	FAM153C_ENST00000511189.1_Frame_Shift_Del_p.P129fs|FAM153C_ENST00000398106.2_Frame_Shift_Del_p.P100fs			Q494X1	F153C_HUMAN	family with sequence similarity 153, member C	100										kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCTGCACCTGCAGAAGAAG	0.52																																																	0																																										SO:0001589	frameshift_variant	653316			BC101338		5q35.3	2008-01-09				ENSG00000204677			33936	protein-coding gene	gene with protein product							Standard	NR_038353		Approved	NY-REN-7-like	uc011dge.2	Q494X1		ENST00000507848.1:c.299_300delCT	5.37:g.177473898_177473899delCT	ENSP00000424623:p.Pro100fs	Somatic		WXS	SOLID	Phase_I	A4IF33|B2RUV5|B7ZW12	Frame_Shift_Del	DEL	ENST00000507848.1	37																																																																																					0.520	FAM153C-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000373556.1		NM_001079527	
FAM187B	148109	hgsc.bcm.edu	37	19	35719577	35719577	+	Missense_Mutation	SNP	G	G	A	rs34873156	byFrequency	TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr19:35719577G>A	ENST00000324675.3	-	1	55	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	3			P -> S (in dbSNP:rs34873156). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CACAGCATGGGTGGCATGGTG	0.612													-|||	864	0.172524	0.112	0.2435	5008	,	,		16647	0.0159		0.3718	False		,,,				2504	0.1605																0								G	SER/PRO	590,3804		38,514,1645	25.0	28.0	27.0		7	-3.6	0.0	19	dbSNP_126	27	3231,5367		596,2039,1664	yes	missense	FAM187B	NM_152481.1	74	634,2553,3309	AA,AG,GG		37.5785,13.4274,29.4104	benign	3/370	35719577	3821,9171	2197	4299	6496	SO:0001583	missense	148109			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.7C>T	19.37:g.35719577G>A	ENSP00000323355:p.Pro3Ser	Somatic		WXS	SOLID	Phase_I	Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	CCDS12448.1	458	0.2097069597069597	65	0.13211382113821138	92	0.2541436464088398	14	0.024475524475524476	287	0.3786279683377309	G	2.096	-0.407252	0.04832	0.134274	0.375785	ENSG00000177558	ENST00000324675	T	0.21543	2.0	5.3	-3.6	0.04570	.	0.804889	0.11107	N	0.599034	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.46034	-0.9220	9	0.09338	T	0.73	-17.2885	2.0071	0.03480	0.128:0.3374:0.2819:0.2527	rs34873156;rs62111448	3	Q17R55	F187B_HUMAN	S	3	ENSP00000323355:P3S	ENSP00000323355:P3S	P	-	1	0	FAM187B	40411417	0.000000	0.05858	0.013000	0.15412	0.002000	0.02628	-1.237000	0.02922	-0.394000	0.07727	-1.105000	0.02106	CCC		0.612	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1		NM_152481	
FLII	2314	hgsc.bcm.edu	37	17	18156613	18156613	+	Splice_Site	SNP	A	A	C			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr17:18156613A>C	ENST00000327031.4	-	9	1239		c.e9+1		FLII_ENST00000578558.1_Splice_Site|FLII_ENST00000379450.4_Splice_Site|FLII_ENST00000579294.1_Splice_Site|FLII_ENST00000584444.1_5'Flank|FLII_ENST00000545457.2_Splice_Site	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)						multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCTGCCCAGCACCTGCAGAGA	0.577																																																	0													45.0	43.0	44.0					17																	18156613		2203	4300	6503	SO:0001630	splice_region_variant	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1013+1T>G	17.37:g.18156613A>C		Somatic		WXS	SOLID	Phase_I	B4DIL0|F5H407|J3QLG3	Splice_Site	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155552	0.57259	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1063	0.81225	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLII	18097338	1.000000	0.71417	0.995000	0.50966	0.446000	0.32137	8.928000	0.92853	2.205000	0.71048	0.528000	0.53228	.		0.577	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2		NM_002018	Intron
FSCB	84075	hgsc.bcm.edu	37	14	44973866	44973866	+	Silent	SNP	C	C	A	rs200610473		TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr14:44973866C>A	ENST00000340446.4	-	1	2616	c.2325G>T	c.(2323-2325)tcG>tcT	p.S775S	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	775			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CCAAAACAACCGATCCTAATT	0.418																																																	0													82.0	89.0	87.0					14																	44973866		2203	4300	6503	SO:0001819	synonymous_variant	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2325G>T	14.37:g.44973866C>A		Somatic		WXS	SOLID	Phase_I	Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	CCDS9679.1																																																																																				0.418	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1		NM_032135	
KBTBD12	166348	hgsc.bcm.edu;ucsc.edu	37	3	127642834	127642834	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr3:127642834C>G	ENST00000405109.1	+	2	1397	c.930C>G	c.(928-930)ttC>ttG	p.F310L	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.F310L|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	310										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAACCTATTTCATCTCATCTC	0.418																																																	0													131.0	126.0	128.0					3																	127642834		1920	4112	6032	SO:0001583	missense	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.930C>G	3.37:g.127642834C>G	ENSP00000385957:p.Phe310Leu	Somatic		WXS	SOLID	Phase_I	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444706	0.25987	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.64803	-0.12;-0.12	5.62	2.1	0.27182	Kelch-type beta propeller (1);	.	.	.	.	T	0.48059	0.1479	L	0.59436	1.845	0.34694	D	0.726063	P	0.44006	0.824	B	0.34418	0.182	T	0.54569	-0.8274	9	0.11485	T	0.65	.	9.5693	0.39418	0.0:0.7231:0.0:0.2769	.	310	Q3ZCT8	KBTBC_HUMAN	L	310	ENSP00000385957:F310L;ENSP00000385879:F310L	ENSP00000385957:F310L	F	+	3	2	KBTBD12	129125524	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.297000	0.43593	0.153000	0.19213	0.585000	0.79938	TTC		0.418	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1		NM_207335	
KCTD19	146212	hgsc.bcm.edu	37	16	67327642	67327642	+	Missense_Mutation	SNP	C	C	T	rs145649592	byFrequency	TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr16:67327642C>T	ENST00000304372.5	-	12	2078	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	675					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAAGCAGCCTCGCTTCCCAAG	0.617													C|||	14	0.00279553	0.0	0.0029	5008	,	,		17949	0.0		0.006	False		,,,				2504	0.0061																0								C	LYS/GLU	2,4160		0,2,2079	76.0	86.0	83.0		2023	4.9	0.9	16	dbSNP_134	83	43,8353		0,43,4155	yes	missense	KCTD19	NM_001100915.1	56	0,45,6234	TT,TC,CC		0.5121,0.0481,0.3583	probably-damaging	675/927	67327642	45,12513	2081	4198	6279	SO:0001583	missense	146212			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2023G>A	16.37:g.67327642C>T	ENSP00000305702:p.Glu675Lys	Somatic		WXS	SOLID	Phase_I	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	C	13.27	2.187741	0.38609	4.81E-4	0.005121	ENSG00000168676	ENST00000304372	T	0.58940	0.3	5.86	4.92	0.64577	.	0.101032	0.43747	D	0.000539	T	0.37945	0.1022	N	0.24115	0.695	0.27940	N	0.937539	D	0.67145	0.996	P	0.48063	0.565	T	0.31052	-0.9957	10	0.32370	T	0.25	-21.685	9.3289	0.38010	0.0:0.8369:0.0:0.1631	.	675	Q17RG1	KCD19_HUMAN	K	675	ENSP00000305702:E675K	ENSP00000305702:E675K	E	-	1	0	KCTD19	65885143	0.747000	0.28283	0.940000	0.37924	0.914000	0.54420	1.272000	0.33109	1.493000	0.48517	-0.244000	0.11960	GAG		0.617	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1		XM_085367	
GLTSCR1L	23506	hgsc.bcm.edu;ucsc.edu	37	6	42832830	42832830	+	Silent	SNP	G	G	T	rs140608307		TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr6:42832830G>T	ENST00000314073.5	+	13	3062	c.2886G>T	c.(2884-2886)tcG>tcT	p.S962S	GLTSCR1L_ENST00000394168.1_Silent_p.S962S			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	962																	TAGCAGATTCGCACTTGGAGA	0.498																																																	0													77.0	76.0	76.0					6																	42832830		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2886G>T	6.37:g.42832830G>T		Somatic		WXS	SOLID	Phase_I	A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	CCDS34451.1																																																																																				0.498	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3		NM_015349	
MAT2A	4144	hgsc.bcm.edu;ucsc.edu	37	2	85769804	85769804	+	Silent	SNP	T	T	C			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr2:85769804T>C	ENST00000306434.3	+	7	1008	c.885T>C	c.(883-885)gcT>gcC	p.A295A	MAT2A_ENST00000409017.1_Silent_p.A232A	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	295					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTTCAGCTGCTTATGCTGCTC	0.473																																																	0													132.0	133.0	133.0					2																	85769804		2203	4300	6503	SO:0001819	synonymous_variant	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.885T>C	2.37:g.85769804T>C		Somatic		WXS	SOLID	Phase_I	A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	ENST00000306434.3	37	CCDS1977.1																																																																																				0.473	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2		NM_005911	
MYCBPAP	84073	hgsc.bcm.edu;ucsc.edu	37	17	48600354	48600354	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr17:48600354A>C	ENST00000323776.5	+	11	1603	c.1441A>C	c.(1441-1443)Acc>Ccc	p.T481P	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.T444P	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGGCGAGAAAACCTCCTCAGA	0.517																																																	0													106.0	104.0	104.0					17																	48600354		2203	4300	6503	SO:0001583	missense	84073			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1441A>C	17.37:g.48600354A>C	ENSP00000323184:p.Thr481Pro	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000323776.5	37	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574808	0.45902	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.45668	0.89;0.89	5.83	3.61	0.41365	.	0.112239	0.64402	D	0.000014	T	0.55178	0.1904	M	0.72479	2.2	0.37464	D	0.915324	D	0.76494	0.999	D	0.64776	0.929	T	0.60424	-0.7266	10	0.59425	D	0.04	-9.7277	5.6724	0.17729	0.646:0.0:0.354:0.0	.	444	Q8TBZ2	MYBPP_HUMAN	P	481;444	ENSP00000323184:T481P;ENSP00000397209:T444P	ENSP00000323184:T481P	T	+	1	0	MYCBPAP	45955353	1.000000	0.71417	0.783000	0.31826	0.019000	0.09904	3.869000	0.56062	1.006000	0.39211	0.533000	0.62120	ACC		0.517	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1		NM_032133	
NAA15	80155	hgsc.bcm.edu;ucsc.edu	37	4	140282956	140282956	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr4:140282956G>A	ENST00000296543.5	+	14	1941	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N	NAA15_ENST00000398947.1_Missense_Mutation_p.D540N	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	540	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATCATATGTGGACTTATTAAA	0.333																																																	0													81.0	76.0	77.0					4																	140282956		1857	4087	5944	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1618G>A	4.37:g.140282956G>A	ENSP00000296543:p.Asp540Asn	Somatic		WXS	SOLID	Phase_I	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066568	0.76187	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.46819	0.86;0.86	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.61218	1.895	0.80722	D	1	B	0.20459	0.045	B	0.27608	0.081	T	0.41360	-0.9513	10	0.33141	T	0.24	-16.3388	20.5666	0.99351	0.0:0.0:1.0:0.0	.	540	Q9BXJ9	NAA15_HUMAN	N	540;414;540	ENSP00000296543:D540N;ENSP00000381920:D540N	ENSP00000296543:D540N	D	+	1	0	NAA15	140502406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.854000	0.98071	0.655000	0.94253	GAC		0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2		NM_057175	
PKHD1	5314	hgsc.bcm.edu	37	6	51524622	51524622	+	Silent	SNP	A	A	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr6:51524622A>G	ENST00000371117.3	-	61	10577	c.10302T>C	c.(10300-10302)acT>acC	p.T3434T		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3434					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAAACCACTAGTCACAGATA	0.408																																																	0													106.0	97.0	100.0					6																	51524622		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10302T>C	6.37:g.51524622A>G		Somatic		WXS	SOLID	Phase_I	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694	
RANGRF	29098	hgsc.bcm.edu	37	17	8193196	8193196	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr17:8193196T>G	ENST00000226105.6	+	5	795	c.503T>G	c.(502-504)tTt>tGt	p.F168C	SLC25A35_ENST00000396278.1_3'UTR|RANGRF_ENST00000580434.1_3'UTR|SLC25A35_ENST00000580340.1_Missense_Mutation_p.K279T|SLC25A35_ENST00000581320.1_5'Flank|RANGRF_ENST00000439238.3_3'UTR|SLC25A35_ENST00000380067.2_Missense_Mutation_p.K279T|SLC25A35_ENST00000579192.1_Missense_Mutation_p.K279T|RANGRF_ENST00000407006.4_3'UTR	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	168					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein localization to cell surface (GO:2000010)|protein exit from endoplasmic reticulum (GO:0032527)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization (GO:0003254)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	guanyl-nucleotide exchange factor activity (GO:0005085)|ion channel binding (GO:0044325)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)|sodium channel regulator activity (GO:0017080)			endometrium(1)	1						CTGGGTGACTTTGAACAGCTG	0.542																																																	0													145.0	143.0	144.0					17																	8193196		2203	4300	6503	SO:0001583	missense	29098			AF151070	CCDS11137.1, CCDS54086.1, CCDS54087.1	17p13	2014-05-09				ENSG00000108961			17679	protein-coding gene	gene with protein product	"""MOG1 homolog (S. cerevisiae)"""	607954				11290418	Standard	NM_016492		Approved	MOG1, HSPC165, HSPC236, RANGNRF	uc002gkv.3	Q9HD47		ENST00000226105.6:c.503T>G	17.37:g.8193196T>G	ENSP00000226105:p.Phe168Cys	Somatic		WXS	SOLID	Phase_I	D3DTR6|Q68DI3|Q9BR68|Q9HD48|Q9NRU9|Q9P001|Q9P0P2	Missense_Mutation	SNP	ENST00000226105.6	37	CCDS11137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.60|19.60	3.858233|3.858233	0.71834|0.71834	.|.	.|.	ENSG00000108961|ENSG00000125434	ENST00000226105|ENST00000380067	T|T	0.79247|0.80738	-1.25|-1.41	5.74|5.74	5.74|5.74	0.90152|0.90152	Mog1/PsbP, alpha/beta/alpha sandwich (1);Mog1/PsbP/DUF1795, alpha/beta/alpha sandwich (1);|.	.|1.162190	.|0.06123	.|N	.|0.669220	T|T	0.79873|0.79873	0.4521|0.4521	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D|B	0.76494|0.34290	0.999|0.447	D|B	0.73380|0.41332	0.98|0.354	T|T	0.66826|0.66826	-0.5825|-0.5825	9|10	0.46703|0.87932	T|D	0.11|0	1.0676|1.0676	12.436|12.436	0.55600|0.55600	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	168|279	Q9HD47|Q3KQZ1-4	MOG1_HUMAN|.	C|T	168|279	ENSP00000226105:F168C|ENSP00000369407:K279T	ENSP00000226105:F168C|ENSP00000369407:K279T	F|K	+|-	2|2	0|0	RANGRF|SLC25A35	8133921|8133921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.859000|3.859000	0.55987|0.55987	2.182000|2.182000	0.69389|0.69389	0.496000|0.496000	0.49642|0.49642	TTT|AAA		0.542	RANGRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442127.1		NM_016492	
RAPGEF6	51735	hgsc.bcm.edu	37	5	130815212	130815212	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr5:130815212A>G	ENST00000509018.1	-	16	2280	c.2075T>C	c.(2074-2076)cTa>cCa	p.L692P	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.L692P|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.L407P|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.L692P|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.L742P|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.L692P|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.L692P|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.L692P	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	692					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTACCTAAATAGCTTTGGAGG	0.373																																					Melanoma(168;435 1955 13113 13877 23213)												0													98.0	94.0	95.0					5																	130815212		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2075T>C	5.37:g.130815212A>G	ENSP00000421684:p.Leu692Pro	Somatic		WXS	SOLID	Phase_I	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047371	0.36085	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.26373	1.99;1.89;1.89;1.99;1.74;1.75;2.26;2.08	5.91	4.74	0.60224	Ras guanine nucleotide exchange factor, domain (1);	0.157587	0.43110	D	0.000618	T	0.12689	0.0308	N	0.05554	-0.025	0.80722	D	1	B;B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.001;0.001;0.002;0.001	B;B;B;B;B;B;B	0.12837	0.003;0.002;0.008;0.003;0.003;0.008;0.002	T	0.10428	-1.0630	10	0.26408	T	0.33	.	9.1515	0.36967	0.8608:0.0:0.1392:0.0	.	692;692;692;407;742;692;692	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	P	692;692;692;692;692;407;692;692;742	ENSP00000421684:L692P;ENSP00000309298:L692P;ENSP00000426081:L692P;ENSP00000296859:L692P;ENSP00000426910:L407P;ENSP00000311419:L692P;ENSP00000425389:L692P;ENSP00000426948:L742P	ENSP00000426948:L742P	L	-	2	0	RAPGEF6;FNIP1	130843111	1.000000	0.71417	0.391000	0.26233	0.976000	0.68499	5.385000	0.66231	1.052000	0.40392	0.533000	0.62120	CTA		0.373	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1		NM_016340	
RTCA	8634	hgsc.bcm.edu;ucsc.edu	37	1	100741273	100741273	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr1:100741273G>A	ENST00000370128.4	+	7	903	c.734G>A	c.(733-735)gGa>gAa	p.G245E	RTCA_ENST00000260563.4_Missense_Mutation_p.G258E	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	245					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										AATGGAAATGGAATAATGTGA	0.353																																																	0													92.0	95.0	94.0					1																	100741273		2203	4300	6503	SO:0001583	missense	0			Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.734G>A	1.37:g.100741273G>A	ENSP00000359146:p.Gly245Glu	Somatic		WXS	SOLID	Phase_I	Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473387	0.84640	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.23	5.23	0.72850	-terminal phosphate cyclase, subset, insert domain (2);-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase domain (1);RNA 3&apos (5);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.85542	2.76	0.80722	D	1	D;D	0.63046	0.99;0.992	D;D	0.70016	0.962;0.967	D	0.84711	0.0734	9	0.87932	D	0	-5.0086	18.8312	0.92141	0.0:0.0:1.0:0.0	.	258;245	O00442-2;O00442	.;RTC1_HUMAN	E	245;258	.	ENSP00000260563:G258E	G	+	2	0	RTCD1	100513861	1.000000	0.71417	0.996000	0.52242	0.759000	0.43091	9.209000	0.95087	2.453000	0.82957	0.655000	0.94253	GGA		0.353	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2			
SLC18A2	6571	hgsc.bcm.edu	37	10	119029905	119029905	+	Silent	SNP	G	G	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr10:119029905G>T	ENST00000298472.5	+	15	1514	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	457					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CAATTATTGGGATAATTGATA	0.388																																																	0													203.0	187.0	193.0					10																	119029905		2203	4300	6503	SO:0001819	synonymous_variant	6571			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1371G>T	10.37:g.119029905G>T		Somatic		WXS	SOLID	Phase_I	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	CCDS7599.1																																																																																				0.388	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1		NM_003054	
SLC22A15	55356	hgsc.bcm.edu	37	1	116534699	116534699	+	Silent	SNP	G	G	C			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr1:116534699G>C	ENST00000369503.4	+	2	265	c.135G>C	c.(133-135)acG>acC	p.T45T	SLC22A15_ENST00000369502.1_Silent_p.T45T	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	45					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTGGGGCCACGCCATCCTACC	0.557																																																	0													40.0	42.0	42.0					1																	116534699		2038	4189	6227	SO:0001819	synonymous_variant	55356			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.135G>C	1.37:g.116534699G>C		Somatic		WXS	SOLID	Phase_I	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Silent	SNP	ENST00000369503.4	37	CCDS44198.1																																																																																				0.557	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2		NM_018420	
SLITRK6	84189	hgsc.bcm.edu;ucsc.edu	37	13	86369855	86369855	+	Silent	SNP	C	C	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr13:86369855C>T	ENST00000400286.2	-	2	1387	c.789G>A	c.(787-789)aaG>aaA	p.K263K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	263	LRRCT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAATAGATTCCTTCTTTAGTC	0.403																																																	0													110.0	98.0	102.0					13																	86369855		1895	4114	6009	SO:0001819	synonymous_variant	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.789G>A	13.37:g.86369855C>T		Somatic		WXS	SOLID	Phase_I	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	CCDS41903.1																																																																																				0.403	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2		NM_032229	
SNED1	25992	hgsc.bcm.edu	37	2	241991875	241991875	+	Silent	SNP	G	G	A	rs57214830	byFrequency	TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr2:241991875G>A	ENST00000310397.8	+	15	2073	c.2073G>A	c.(2071-2073)cgG>cgA	p.R691R	SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Silent_p.R691R|SNED1_ENST00000401884.1_Silent_p.R691R|SNED1_ENST00000405547.3_Silent_p.R691R|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	691	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGGGACGCCGGTGCCAGGCAG	0.637													G|||	1286	0.256789	0.2126	0.245	5008	,	,		17592	0.4067		0.1928	False		,,,				2504	0.2362																0								G		800,3316		93,614,1351	43.0	49.0	47.0		2073	2.2	1.0	2	dbSNP_129	47	1433,6939		134,1165,2887	yes	coding-synonymous	SNED1	NM_001080437.1		227,1779,4238	AA,AG,GG		17.1166,19.4363,17.8812		691/1414	241991875	2233,10255	2058	4186	6244	SO:0001819	synonymous_variant	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2073G>A	2.37:g.241991875G>A		Somatic		WXS	SOLID	Phase_I	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1																																																																																				0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2		XM_059482	
TTC17	55761	hgsc.bcm.edu	37	11	43427495	43427495	+	Silent	SNP	A	A	C			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr11:43427495A>C	ENST00000039989.4	+	13	1769	c.1755A>C	c.(1753-1755)gcA>gcC	p.A585A	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.A585A	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	585					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATGACCATGCACGAAAAGTAA	0.418																																																	0													68.0	64.0	65.0					11																	43427495		2203	4300	6503	SO:0001819	synonymous_variant	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1755A>C	11.37:g.43427495A>C		Somatic		WXS	SOLID	Phase_I	G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	CCDS31466.1																																																																																				0.418	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2		NM_018259	
UHRF1BP1L	23074	hgsc.bcm.edu;ucsc.edu	37	12	100433530	100433530	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr12:100433530T>G	ENST00000279907.7	-	20	4331	c.4119A>C	c.(4117-4119)gaA>gaC	p.E1373D	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.E1023D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1373										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTTGACATTTTCTTTCAAAT	0.388																																																	0													88.0	76.0	80.0					12																	100433530		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4119A>C	12.37:g.100433530T>G	ENSP00000279907:p.Glu1373Asp	Somatic		WXS	SOLID	Phase_I	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.37|10.37	1.331924|1.331924	0.24167|0.24167	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000279907;ENST00000545232|ENST00000548712	T;T|.	0.09911|.	2.93;2.93|.	4.76|4.76	-0.455|-0.455	0.12193|0.12193	.|.	1.322250|.	0.04705|.	N|.	0.416679|.	T|T	0.13372|0.13372	0.0324|0.0324	N|N	0.04636|0.04636	-0.2|-0.2	0.23555|0.23555	N|N	0.997425|0.997425	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.28106|0.28106	-1.0054|-1.0054	10|5	0.11485|.	T|.	0.65|.	-3.9537|-3.9537	4.8412|4.8412	0.13491|0.13491	0.0:0.1939:0.3518:0.4543|0.0:0.1939:0.3518:0.4543	.|.	1373|.	A0JNW5|.	UH1BL_HUMAN|.	D|T	1373;1023|134	ENSP00000279907:E1373D;ENSP00000444824:E1023D|.	ENSP00000279907:E1373D|.	E|K	-|-	3|2	2|0	UHRF1BP1L|UHRF1BP1L	98957661|98957661	0.518000|0.518000	0.26234|0.26234	0.118000|0.118000	0.21660|0.21660	0.935000|0.935000	0.57460|0.57460	0.614000|0.614000	0.24314|0.24314	-0.010000|-0.010000	0.14271|0.14271	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.388	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1		NM_001006947	
UNC93A	54346	hgsc.bcm.edu;ucsc.edu	37	6	167705042	167705042	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr6:167705042A>G	ENST00000230256.3	+	1	240	c.65A>G	c.(64-66)tAt>tGt	p.Y22C	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.Y22C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTTACAGCCTATGGAGGTCTG	0.468																																																	0													179.0	164.0	169.0					6																	167705042		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.65A>G	6.37:g.167705042A>G	ENSP00000230256:p.Tyr22Cys	Somatic		WXS	SOLID	Phase_I	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.498828	0.26861	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.46451	0.87;0.87;0.87	5.57	1.7	0.24286	Major facilitator superfamily domain, general substrate transporter (1);	0.356815	0.29767	N	0.011251	T	0.50120	0.1597	M	0.87547	2.89	0.47949	D	0.999552	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.967	T	0.51474	-0.8701	10	0.62326	D	0.03	-22.5079	5.4334	0.16466	0.5395:0.0:0.0709:0.3896	.	22;22	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	C	22	ENSP00000421484:Y22C;ENSP00000230256:Y22C;ENSP00000355794:Y22C	ENSP00000230256:Y22C	Y	+	2	0	UNC93A	167625032	0.998000	0.40836	0.688000	0.30117	0.013000	0.08279	3.382000	0.52463	0.053000	0.16036	-0.261000	0.10672	TAT		0.468	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2		NM_018974	
ZNF343	79175	hgsc.bcm.edu;ucsc.edu	37	20	2464883	2464883	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr20:2464883T>A	ENST00000278772.4	-	6	1211	c.724A>T	c.(724-726)Aac>Tac	p.N242Y	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	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)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCTCTACAGTTGATTGCTCCA	0.463																																																	0													106.0	105.0	105.0					20																	2464883		2203	4300	6503	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.724A>T	20.37:g.2464883T>A	ENSP00000278772:p.Asn242Tyr	Somatic		WXS	SOLID	Phase_I	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837739	0.32513	.	.	ENSG00000088876	ENST00000278772	T	0.08634	3.07	2.55	2.55	0.30701	.	.	.	.	.	T	0.05273	0.0140	L	0.31371	0.925	0.41129	D	0.985871	P	0.42908	0.793	B	0.33846	0.171	T	0.39901	-0.9591	9	0.66056	D	0.02	.	7.0135	0.24875	0.0:0.0:0.0:1.0	.	242	Q6P1L6	ZN343_HUMAN	Y	242	ENSP00000278772:N242Y	ENSP00000278772:N242Y	N	-	1	0	ZNF343	2412883	0.000000	0.05858	0.012000	0.15200	0.377000	0.30045	0.269000	0.18589	1.432000	0.47375	0.482000	0.46254	AAC		0.463	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1		NM_024325	
ZNF717	100131827	hgsc.bcm.edu	37	3	75787812	75787813	+	Frame_Shift_Ins	INS	-	-	T	rs138918118|rs143242394		TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr3:75787812_75787813insT	ENST00000478296.1	-	4	1087_1088	c.811_812insA	c.(811-813)agcfs	p.S271fs	ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000477374.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.S314fs|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.S321fs			Q9BY31	ZN717_HUMAN	zinc finger protein 717	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GGACTTATAGCTGAACAATTTT	0.426																																																	0										368,754		140,88,333						-3.2	0.0		dbSNP_130	5	819,1629		327,165,732	no	frameshift	ZNF717	NM_001128223.1		467,253,1065	A1A1,A1R,RR		33.4559,32.7986,33.2493				1187,2383				SO:0001589	frameshift_variant	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.812dupA	3.37:g.75787813_75787813dupT	ENSP00000419377:p.Ser271fs	Somatic		WXS	SOLID	Phase_I		Frame_Shift_Ins	INS	ENST00000478296.1	37																																																																																					0.426	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2		NM_001128223	
