#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_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_default_gene_name	i_deletion_substructures	i_domain	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_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADAM15	8751	genome.wustl.edu	37	1	155034080	155034080	+	Intron	SNP	C	C	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:155034080C>A	ENST00000356955.2	+	20	2453				EFNA3_ENST00000505139.1_5'Flank|ADAM15_ENST00000368410.2_Intron|EFNA4_ENST00000427683.2_5'Flank|ADAM15_ENST00000449910.2_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000472434.1_Intron|ADAM15_ENST00000271836.6_Intron|EFNA3_ENST00000556931.1_5'Flank|EFNA4_ENST00000359751.4_5'Flank|ADAM15_ENST00000531455.1_Intron|EFNA4_ENST00000368409.3_5'Flank|ADAM15_ENST00000359280.4_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000368413.1_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15						angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GATCGGGGTGCCCCTCAGCCT	0.612											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2352+115C>A	1.37:g.155034080C>A		Somatic	1767	WXS	Illumina HiSeq	Phase_IV	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	RNA	SNP	-	NULL	ENST00000356955.2	37	NULL	CCDS1087.1	1																																																																																			ADAM15	-	-		0.612	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	C	NM_003815		155034080	+1	no_errors	ENST00000461234	ensembl	human	known	70_37	rna	SNP	1.000	A
ARFIP1	27236	genome.wustl.edu	37	4	153831234	153831234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr4:153831234C>T	ENST00000451320.2	+	9	1149	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	ARFIP1_ENST00000429148.2_Nonsense_Mutation_p.Q149*|ARFIP1_ENST00000356064.3_Nonsense_Mutation_p.Q297*|ARFIP1_ENST00000353617.2_Nonsense_Mutation_p.Q329*|ARFIP1_ENST00000405727.2_Nonsense_Mutation_p.Q297*			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	329	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					ATTGCACAATCAGCTGGTCCT	0.388																																																	0													143.0	138.0	140.0					4																	153831234		2203	4300	6503	SO:0001587	stop_gained	27236			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.985C>T	4.37:g.153831234C>T	ENSP00000395083:p.Gln329*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M2X4|Q3SYL4|Q9Y2X6	Nonsense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.Q329*	ENST00000451320.2	37	c.985	CCDS34080.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.720549	0.96839	.	.	ENSG00000164144	ENST00000451320;ENST00000429148;ENST00000353617;ENST00000405727;ENST00000356064	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.0037	20.1001	0.97870	0.0:1.0:0.0:0.0	.	.	.	.	X	329;149;329;297;297	.	ENSP00000296557:Q329X	Q	+	1	0	ARFIP1	154050684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.760000	0.94817	0.655000	0.94253	CAG	ARFIP1	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom		0.388	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFIP1	HGNC	protein_coding	OTTHUMT00000365032.1	C	NM_014447		153831234	+1	no_errors	ENST00000353617	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ATXN2L	11273	genome.wustl.edu	37	16	28843711	28843711	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr16:28843711C>T	ENST00000336783.4	+	11	1674	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P509S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P503S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P503S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P503S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P503S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P503S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	503					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCCCTGGCCCCCACAGATGG	0.498																																																	0													81.0	88.0	86.0					16																	28843711		2197	4300	6497	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1507C>T	16.37:g.28843711C>T	ENSP00000338718:p.Pro503Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.P503S	ENST00000336783.4	37	c.1507	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	11.82	1.753762	0.31046	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.44881	0.92;0.92;0.91;0.91;0.91	5.46	4.5	0.54988	.	0.158098	0.43579	D	0.000548	T	0.23014	0.0556	N	0.12182	0.205	0.51233	D	0.999912	B;B;B;B;B;B;B;B	0.14012	0.001;0.009;0.001;0.003;0.001;0.001;0.001;0.005	B;B;B;B;B;B;B;B	0.12156	0.003;0.007;0.001;0.002;0.003;0.003;0.001;0.005	T	0.07712	-1.0758	10	0.18276	T	0.48	-11.8559	10.7944	0.46451	0.0:0.8504:0.0:0.1496	.	503;503;503;503;503;503;503;503	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	S	503	ENSP00000341459:P503S;ENSP00000378917:P503S;ENSP00000338718:P503S;ENSP00000372133:P503S;ENSP00000315650:P503S	ENSP00000315650:P503S	P	+	1	0	ATXN2L	28751212	0.709000	0.27886	1.000000	0.80357	0.984000	0.73092	0.891000	0.28309	2.567000	0.86603	0.491000	0.48974	CCC	ATXN2L	-	NULL		0.498	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	C	NM_007245		28843711	+1	no_errors	ENST00000395547	ensembl	human	known	70_37	missense	SNP	0.903	T
BAZ2A	11176	genome.wustl.edu	37	12	57009107	57009107	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr12:57009107G>A	ENST00000551812.1	-	3	620	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	BAZ2A_ENST00000179765.5_Missense_Mutation_p.R141W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R143W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R141W	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	143					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTCCCAGCCCGAAGGTTAGTG	0.542																																																	0													71.0	70.0	71.0					12																	57009107		1904	4113	6017	SO:0001583	missense	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.427C>T	12.37:g.57009107G>A	ENSP00000446880:p.Arg143Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R143W	ENST00000551812.1	37	c.427	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488219	0.64074	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	4.75	4.75	0.60458	.	0.427051	0.22396	N	0.060613	T	0.22126	0.0533	N	0.14661	0.345	0.31489	N	0.666223	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.67548	0.929;0.952;0.897	T	0.04900	-1.0919	10	0.87932	D	0	.	10.6739	0.45774	0.0:0.0:0.8093:0.1907	.	143;141;143	B7Z8F7;F8VU39;Q9UIF9	.;.;BAZ2A_HUMAN	W	143;141;143;141	ENSP00000368754:R143W;ENSP00000179765:R141W;ENSP00000446880:R143W;ENSP00000447941:R141W	ENSP00000179765:R141W	R	-	1	2	BAZ2A	55295374	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	1.380000	0.34351	2.631000	0.89168	0.655000	0.94253	CGG	BAZ2A	-	NULL		0.542	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	G	NM_013449		57009107	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	missense	SNP	1.000	A
MYRF	745	genome.wustl.edu	37	11	61546883	61546883	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:61546883C>T	ENST00000278836.5	+	15	2258	c.2162C>T	c.(2161-2163)tCg>tTg	p.S721L	MYRF_ENST00000327797.1_Missense_Mutation_p.S365L|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.S712L|MYRF_ENST00000389602.4_Missense_Mutation_p.S112L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	721					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACCGGCAGCTCGGGCGCCTTC	0.662																																																	0													13.0	14.0	14.0					11																	61546883		1995	3905	5900	SO:0001583	missense	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2162C>T	11.37:g.61546883C>T	ENSP00000278836:p.Ser721Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43582|Q9P1Q6	Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.S721L	ENST00000278836.5	37	c.2162	CCDS44622.1	11	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813705	0.70912	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797;ENST00000389602	T;T;T;T	0.46819	1.36;1.39;0.86;1.33	4.52	4.52	0.55395	.	0.604027	0.17240	N	0.181599	T	0.45478	0.1344	M	0.61703	1.905	0.47778	D	0.999518	B;B;B	0.34313	0.448;0.301;0.2	B;B;B	0.27380	0.058;0.079;0.03	T	0.52593	-0.8555	10	0.54805	T	0.06	-10.019	16.0024	0.80306	0.0:1.0:0.0:0.0	.	112;712;721	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	L	721;712;365;112	ENSP00000278836:S721L;ENSP00000265460:S712L;ENSP00000333261:S365L;ENSP00000374253:S112L	ENSP00000265460:S712L	S	+	2	0	C11orf9	61303459	0.985000	0.35326	0.940000	0.37924	0.950000	0.60333	2.379000	0.44318	2.517000	0.84864	0.655000	0.94253	TCG	C11orf9	-	NULL		0.662	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf9	HGNC	protein_coding	OTTHUMT00000398519.2	C	NM_013279		61546883	+1	no_errors	ENST00000278836	ensembl	human	known	70_37	missense	SNP	0.996	T
BRMS1	25855	genome.wustl.edu	37	11	66105270	66105270	+	3'UTR	SNP	T	T	C			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:66105270T>C	ENST00000359957.3	-	0	984				RIN1_ENST00000311320.4_5'Flank|RIN1_ENST00000424433.2_5'Flank|BRMS1_ENST00000425825.2_Missense_Mutation_p.T248A|RIN1_ENST00000530056.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1						apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GGCCTGTGGGTCCGCCTGTCT	0.652																																					GBM(7;55 307 2662 20856 28942)												0													45.0	50.0	49.0					11																	66105270		2200	4295	6495	SO:0001624	3_prime_UTR_variant	25855			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.*83A>G	11.37:g.66105270T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAI2	Missense_Mutation	SNP	pfam_Sds3	p.T248A	ENST00000359957.3	37	c.742	CCDS8135.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.272|2.272	-0.366785|-0.366785	0.05069|0.05069	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000524699|ENST00000425825	.|.	.|.	.|.	2.24|2.24	1.08|1.08	0.20341|0.20341	.|.	.|.	.|.	.|.	.|.	T|T	0.18257|0.18257	0.0438|0.0438	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999993|0.999993	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.30446|0.30446	-0.9978|-0.9978	5|8	.|0.10111	.|T	.|0.7	.|.	4.0405|4.0405	0.09750|0.09750	0.0:0.1809:0.0:0.8191|0.0:0.1809:0.0:0.8191	.|.	.|248	.|G5E9I4	.|.	G|A	224|248	.|.	.|ENSP00000396052:T248A	D|T	-|-	2|1	0|0	BRMS1|BRMS1	65861846|65861846	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.004000|0.004000	0.04260|0.04260	-0.445000|-0.445000	0.06845|0.06845	0.310000|0.310000	0.22990|0.22990	0.374000|0.374000	0.22700|0.22700	GAC|ACC	BRMS1	-	NULL		0.652	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1	HGNC	protein_coding	OTTHUMT00000392958.2	T	NM_015399		66105270	-1	no_errors	ENST00000425825	ensembl	human	known	70_37	missense	SNP	0.004	C
NUTM1	256646	genome.wustl.edu	37	15	34640436	34640436	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr15:34640436G>C	ENST00000333756.4	+	2	438	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	NUTM1_ENST00000537011.1_Missense_Mutation_p.E123Q|NUTM1_ENST00000438749.3_Missense_Mutation_p.E113Q	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	95	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGTCAAGACAGAAGGGGGGTC	0.587																																																	0													65.0	63.0	64.0					15																	34640436		2201	4298	6499	SO:0001583	missense	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.283G>C	15.37:g.34640436G>C	ENSP00000329448:p.Glu95Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	NULL	p.E95Q	ENST00000333756.4	37	c.283	CCDS32190.1	15	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631157	0.67015	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.25250	1.81;1.81;1.81	5.69	5.69	0.88448	Nuclear Testis  protein, N-terminal (1);	0.212373	0.33199	N	0.005167	T	0.47801	0.1465	M	0.70275	2.135	0.26874	N	0.967682	D;D;D	0.64830	0.994;0.992;0.994	P;P;P	0.62740	0.906;0.848;0.906	T	0.41680	-0.9495	10	0.45353	T	0.12	.	15.3253	0.74157	0.0:0.0:1.0:0.0	.	113;123;95	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	Q	123;113;95;95	ENSP00000444896:E123Q;ENSP00000407031:E113Q;ENSP00000329448:E95Q	ENSP00000329448:E95Q	E	+	1	0	C15orf55	32427728	1.000000	0.71417	0.867000	0.34043	0.534000	0.34807	3.324000	0.52022	2.692000	0.91855	0.655000	0.94253	GAA	C15orf55	-	NULL		0.587	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf55	HGNC	protein_coding	OTTHUMT00000418026.1	G	NM_175741		34640436	+1	no_errors	ENST00000333756	ensembl	human	known	70_37	missense	SNP	0.928	C
C3orf67	200844	genome.wustl.edu	37	3	58817516	58817516	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:58817516C>A	ENST00000482387.1	-	10	1792	c.1696G>T	c.(1696-1698)Gct>Tct	p.A566S	RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.A440S|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	566										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GAGGTCCCAGCATCCTCCAGT	0.527																																																	0													213.0	161.0	179.0					3																	58817516		2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1696G>T	3.37:g.58817516C>A	ENSP00000417122:p.Ala566Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.A566S	ENST00000482387.1	37	c.1696		3	.	.	.	.	.	.	.	.	.	.	C	9.000	0.979855	0.18812	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.16597	2.34;2.33	5.92	-11.8	0.00035	.	0.815458	0.11340	N	0.574135	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.16453	-1.0402	9	.	.	.	0.089	2.7753	0.05346	0.1412:0.3363:0.1415:0.3809	.	440;566	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	S	440;566	ENSP00000295966:A440S;ENSP00000417122:A566S	.	A	-	1	0	C3orf67	58792556	0.000000	0.05858	0.000000	0.03702	0.782000	0.44232	-2.467000	0.00993	-1.820000	0.01215	-0.470000	0.05040	GCT	C3orf67	-	NULL		0.527	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	C	NM_198463		58817516	-1	no_errors	ENST00000482387	ensembl	human	known	70_37	missense	SNP	0.000	A
CD300C	10871	genome.wustl.edu	37	17	72540766	72540766	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:72540766C>G	ENST00000330793.1	-	2	742	c.382G>C	c.(382-384)Gag>Cag	p.E128Q		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	128	Ig-like V-type.|Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGACACCTCAACCTCGACA	0.577																																					Esophageal Squamous(66;421 1121 20537 25337 27468)												0													135.0	119.0	124.0					17																	72540766		2203	4300	6503	SO:0001583	missense	10871			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.382G>C	17.37:g.72540766C>G	ENSP00000329507:p.Glu128Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.E128Q	ENST00000330793.1	37	c.382	CCDS11701.1	17	.	.	.	.	.	.	.	.	.	.	C	8.624	0.892098	0.17613	.	.	ENSG00000167850	ENST00000330793	T	0.04156	3.69	4.33	-3.0	0.05480	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.727610	0.03315	N	0.191014	T	0.04679	0.0127	N	0.20574	0.59	0.09310	N	1	P	0.34462	0.454	B	0.40199	0.322	T	0.42982	-0.9419	10	0.19590	T	0.45	.	9.0946	0.36632	0.0:0.3289:0.0:0.6711	.	128	Q08708	CLM6_HUMAN	Q	128	ENSP00000329507:E128Q	ENSP00000329507:E128Q	E	-	1	0	CD300C	70052361	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.569000	0.02142	-0.375000	0.07955	-0.378000	0.06908	GAG	CD300C	-	smart_Ig_sub,pfscan_Ig-like		0.577	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300C	HGNC	protein_coding	OTTHUMT00000145084.1	C	NM_006678		72540766	-1	no_errors	ENST00000330793	ensembl	human	known	70_37	missense	SNP	0.000	G
CD46	4179	genome.wustl.edu	37	1	207967032	207967032	+	3'UTR	SNP	G	G	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:207967032G>T	ENST00000358170.2	+	0	1545				CD46_ENST00000357714.1_3'UTR|CD46_ENST00000322875.4_3'UTR|CD46_ENST00000354848.1_3'UTR|CD46_ENST00000367042.1_3'UTR|CD46_ENST00000367047.1_3'UTR|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000441839.2_3'UTR|CD46_ENST00000367041.1_3'UTR|CD46_ENST00000361067.1_3'UTR|CD46_ENST00000360212.2_3'UTR|CD46_ENST00000322918.5_3'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein						adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GAGTGCAACTGTGGCTTAGCT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	4179			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.*210G>T	1.37:g.207967032G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	RNA	SNP	-	NULL	ENST00000358170.2	37	NULL	CCDS1485.1	1																																																																																			CD46	-	-		0.373	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	G	NM_172361		207967032	+1	no_errors	ENST00000469535	ensembl	human	known	70_37	rna	SNP	0.000	T
CDH17	1015	genome.wustl.edu	37	8	95164278	95164278	+	Silent	SNP	A	A	C			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr8:95164278A>C	ENST00000027335.3	-	13	1738	c.1614T>G	c.(1612-1614)ccT>ccG	p.P538P	CDH17_ENST00000441892.2_Silent_p.P324P|CDH17_ENST00000450165.2_Silent_p.P538P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAAACACTAGAGGCTCAGGAT	0.403																																																	0													111.0	105.0	107.0					8																	95164278		2203	4300	6503	SO:0001819	synonymous_variant	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1614T>G	8.37:g.95164278A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15336|Q2M2E0	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P538	ENST00000027335.3	37	c.1614	CCDS6260.1	8																																																																																			CDH17	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	A	NM_004063		95164278	-1	no_errors	ENST00000027335	ensembl	human	known	70_37	silent	SNP	0.996	C
CERS6	253782	genome.wustl.edu	37	2	169629051	169629051	+	3'UTR	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr2:169629051G>A	ENST00000305747.6	+	0	4621				CERS6-AS1_ENST00000600693.1_RNA|CERS6-AS1_ENST00000425636.2_RNA|CERS6-AS1_ENST00000609766.1_RNA|CERS6-AS1_ENST00000594941.1_RNA|CERS6-AS1_ENST00000599755.1_RNA|CERS6_ENST00000392687.4_3'UTR|CERS6-AS1_ENST00000609665.1_RNA|CERS6-AS1_ENST00000607993.1_RNA|CERS6-AS1_ENST00000599361.1_RNA	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6						ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTGTTTGTCAGCCTCCTGTTC	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	100861402			BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.*2879G>A	2.37:g.169629051G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32M63|Q8N617	RNA	SNP	-	NULL	ENST00000305747.6	37	NULL	CCDS2228.1	2																																																																																			CERS6-AS1	-	-		0.428	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS6-AS1	HGNC	protein_coding	OTTHUMT00000255235.2	G	NM_203463		169629051	-1	no_errors	ENST00000425636	ensembl	human	known	70_37	rna	SNP	0.000	A
CLCN1	1180	genome.wustl.edu	37	7	143029958	143029958	+	Missense_Mutation	SNP	G	G	A	rs139158852	byFrequency	TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr7:143029958G>A	ENST00000343257.2	+	12	1480	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	465					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.V465I(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCTCTTCTTCGTCATGAAGGT	0.502																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	170.0	152.0	158.0		1393	-8.0	0.0	7	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLCN1	NM_000083.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	465/989	143029958	2,13004	2203	4300	6503	SO:0001583	missense	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1393G>A	7.37:g.143029958G>A	ENSP00000339867:p.Val465Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2H5|Q2M202	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.V465I	ENST00000343257.2	37	c.1393	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	G	0.390	-0.924078	0.02377	2.27E-4	1.16E-4	ENSG00000188037	ENST00000343257	D	0.94723	-3.5	5.76	-7.96	0.01144	Chloride channel, core (2);	0.539393	0.21340	N	0.076146	T	0.81777	0.4894	N	0.21545	0.675	0.21782	N	0.999549	B	0.15141	0.012	B	0.18263	0.021	T	0.76214	-0.3041	10	0.05525	T	0.97	.	5.5257	0.16957	0.2024:0.2907:0.4215:0.0854	.	465	P35523	CLCN1_HUMAN	I	465	ENSP00000339867:V465I	ENSP00000339867:V465I	V	+	1	0	CLCN1	142740080	0.000000	0.05858	0.003000	0.11579	0.188000	0.23474	-1.717000	0.01876	-1.670000	0.01468	-1.892000	0.00534	GTC	CLCN1	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core		0.502	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	G	NM_000083		143029958	+1	no_errors	ENST00000343257	ensembl	human	known	70_37	missense	SNP	0.000	A
CLTB	1212	genome.wustl.edu	37	5	175819939	175819939	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr5:175819939C>T	ENST00000310418.4	-	6	731	c.526G>A	c.(526-528)Gag>Aag	p.E176K	CLTB_ENST00000345807.2_Missense_Mutation_p.E158K	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	176					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)	p.E176*(1)		lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		AAAGCCTCCTCGGATGCCCTG	0.592																																																	1	Substitution - Nonsense(1)	lung(1)											206.0	191.0	196.0					5																	175819939		2203	4300	6503	SO:0001583	missense	1212			M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.526G>A	5.37:g.175819939C>T	ENSP00000309415:p.Glu176Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53Y37|Q6FHW1	Missense_Mutation	SNP	pfam_Clathrin_L-chain,superfamily_RuBisCO_lsu_C	p.E176K	ENST00000310418.4	37	c.526	CCDS4403.1	5	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523711	0.85600	.	.	ENSG00000175416	ENST00000310418;ENST00000345807	.	.	.	5.14	5.14	0.70334	.	0.050789	0.85682	D	0.000000	T	0.79293	0.4421	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.969;0.972	T	0.81261	-0.1013	9	0.59425	D	0.04	.	18.6625	0.91475	0.0:1.0:0.0:0.0	.	158;176	P09497-2;P09497	.;CLCB_HUMAN	K	176;158	.	ENSP00000309415:E176K	E	-	1	0	CLTB	175752545	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.792000	0.85828	2.394000	0.81467	0.650000	0.86243	GAG	CLTB	-	pfam_Clathrin_L-chain		0.592	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLTB	HGNC	protein_coding	OTTHUMT00000253153.1	C			175819939	-1	no_errors	ENST00000310418	ensembl	human	known	70_37	missense	SNP	1.000	T
COG2	22796	genome.wustl.edu	37	1	230819156	230819157	+	Intron	DEL	AA	AA	-	rs35756888|rs5781595	byFrequency	TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:230819156_230819157delAA	ENST00000366669.4	+	11	1281				COG2_ENST00000535166.1_Intron|COG2_ENST00000546013.1_Intron|COG2_ENST00000366668.3_Intron|COG2_ENST00000534989.1_Intron	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2						Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ttgttcagttaaaaaaaaaaaa	0.371																																																	0																																										SO:0001627	intron_variant	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1167-163AA>-	1.37:g.230819166_230819167delAA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86U99	RNA	DEL	-	NULL	ENST00000366669.4	37	NULL	CCDS1584.1	1																																																																																			COG2	-	-		0.371	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	AA	NM_007357		230819157	+1	no_errors	ENST00000494371	ensembl	human	known	70_37	rna	DEL	0.000:0.000	-
CPB1	1360	genome.wustl.edu	37	3	148577823	148577823	+	3'UTR	SNP	C	C	G			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:148577823C>G	ENST00000491148.1	+	0	1622				CPB1_ENST00000498639.1_3'UTR|CPB1_ENST00000282957.4_3'UTR|RP11-680B3.2_ENST00000488190.1_RNA			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)							extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCAAAATTCTCATTTTTCATT	0.398																																																	0													36.0	37.0	37.0					3																	148577823		2202	4299	6501	SO:0001624	3_prime_UTR_variant	1360			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.*34C>G	3.37:g.148577823C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O60834|Q53XJ0|Q96BQ8	RNA	SNP	-	NULL	ENST00000491148.1	37	NULL	CCDS33874.1	3																																																																																			CPB1	-	-		0.398	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1	C	NM_001871		148577823	+1	no_errors	ENST00000476847	ensembl	human	putative	70_37	rna	SNP	0.000	G
CRIM1	51232	genome.wustl.edu	37	2	36739535	36739535	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr2:36739535G>C	ENST00000280527.2	+	10	2145	c.1778G>C	c.(1777-1779)aGa>aCa	p.R593T	RP11-78I14.1_ENST00000609765.1_RNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	593					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGCAAGTGCAGAGGTAAGTGT	0.517																																																	0													123.0	117.0	119.0					2																	36739535		2203	4300	6503	SO:0001583	missense	51232			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1778G>C	2.37:g.36739535G>C	ENSP00000280527:p.Arg593Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.R593T	ENST00000280527.2	37	c.1778	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267059	0.59540	.	.	ENSG00000150938	ENST00000280527	T	0.04706	3.57	5.71	5.71	0.89125	Proteinase inhibitor I14/I15, hirudin/antistatin (1);Proteinase inhibitor I15, antistasin (1);	0.049459	0.85682	D	0.000000	T	0.09202	0.0227	M	0.78049	2.395	0.47547	D	0.999458	P	0.40144	0.704	B	0.35182	0.197	T	0.32052	-0.9921	10	0.17369	T	0.5	-14.5238	18.846	0.92208	0.0:0.0:1.0:0.0	.	593	Q9NZV1	CRIM1_HUMAN	T	593	ENSP00000280527:R593T	ENSP00000280527:R593T	R	+	2	0	CRIM1	36593039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.922000	0.56462	2.687000	0.91594	0.655000	0.94253	AGA	CRIM1	-	superfamily_Prot_inh_I14/15_hirudin/antisn		0.517	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	G	NM_016441		36739535	+1	no_errors	ENST00000280527	ensembl	human	known	70_37	missense	SNP	1.000	C
DDB1	1642	genome.wustl.edu	37	11	61070628	61070628	+	Splice_Site	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:61070628C>T	ENST00000301764.7	-	23	3230		c.e23-1		DDB1_ENST00000538470.1_5'UTR|DDB1_ENST00000450997.2_Splice_Site|DDB1_ENST00000451943.2_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCGAGCAATCTTAAAACAGA	0.438								Nucleotide excision repair (NER)																																									0													106.0	99.0	101.0					11																	61070628		2203	4299	6502	SO:0001630	splice_region_variant	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2833-1G>A	11.37:g.61070628C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	SNP	-	e23-1	ENST00000301764.7	37	c.2833-1	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184273	0.78677	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000539332	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6942	0.91594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDB1	60827204	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.802000	0.85969	2.426000	0.82243	0.491000	0.48974	.	DDB1	-	-		0.438	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	C	NM_001923	Intron	61070628	-1	no_errors	ENST00000301764	ensembl	human	known	70_37	splice_site	SNP	1.000	T
DENND4C	55667	genome.wustl.edu	37	9	19369939	19369939	+	Missense_Mutation	SNP	A	A	G	rs542086159		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr9:19369939A>G	ENST00000380432.2	+	26	4807	c.4774A>G	c.(4774-4776)Atc>Gtc	p.I1592V	DENND4C_ENST00000602925.1_Missense_Mutation_p.I1828V|DENND4C_ENST00000434457.2_Missense_Mutation_p.I1877V|RP11-513M16.7_ENST00000609609.1_RNA			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1592					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTTAAACCCATCAACCTACT	0.368													A|||	1	0.000199681	0.0	0.0	5008	,	,		13082	0.0		0.0	False		,,,				2504	0.001																0													95.0	86.0	89.0					9																	19369939		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4774A>G	9.37:g.19369939A>G	ENSP00000369797:p.Ile1592Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.I1592V	ENST00000380432.2	37	c.4774		9	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754027	0.49362	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.25250	1.82;1.81	5.07	5.07	0.68467	.	0.106585	0.64402	D	0.000007	T	0.26048	0.0635	L	0.39514	1.22	0.49687	D	0.999816	B;B;B	0.26400	0.057;0.115;0.148	B;B;B	0.34590	0.142;0.186;0.089	T	0.05194	-1.0900	9	.	.	.	-0.1727	14.9862	0.71351	1.0:0.0:0.0:0.0	.	922;774;1592	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	V	1592;1065;774;922;1065;774;589	ENSP00000305795:I1065V;ENSP00000443804:I922V	.	I	+	1	0	DENND4C	19359939	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	7.798000	0.85924	2.132000	0.65825	0.528000	0.53228	ATC	DENND4C	-	NULL		0.368	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		A	NM_017925		19369939	+1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	1.000	G
DUOX2	50506	genome.wustl.edu	37	15	45398750	45398750	+	Nonsense_Mutation	SNP	C	C	A	rs139161034	byFrequency	TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr15:45398750C>A	ENST00000603300.1	-	16	2123	c.1921G>T	c.(1921-1923)Gaa>Taa	p.E641*	DUOX2_ENST00000389039.6_Nonsense_Mutation_p.E641*	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	641					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGGCTGCTTCCTTCTTCACG	0.552																																																	0													206.0	195.0	199.0					15																	45398750		2198	4298	6496	SO:0001587	stop_gained	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1921G>T	15.37:g.45398750C>A	ENSP00000475084:p.Glu641*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.E641*	ENST00000603300.1	37	c.1921	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.486998	0.98832	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.19	2.21	0.28008	.	0.657418	0.16300	N	0.220481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-2.5588	6.4263	0.21772	0.0:0.682:0.1546:0.1634	.	.	.	.	X	641	.	ENSP00000373691:E641X	E	-	1	0	DUOX2	43186042	0.840000	0.29493	0.000000	0.03702	0.217000	0.24651	0.384000	0.20668	0.262000	0.21774	0.557000	0.71058	GAA	DUOX2	-	NULL		0.552	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		C	NM_014080		45398750	-1	no_errors	ENST00000389039	ensembl	human	known	70_37	nonsense	SNP	0.098	A
EIF2AK1	27102	genome.wustl.edu	37	7	6084230	6084230	+	Silent	SNP	G	G	T	rs138001475		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr7:6084230G>T	ENST00000199389.6	-	7	839	c.693C>A	c.(691-693)acC>acA	p.T231T	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.T107T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTATCCACGCGGTGTGATAGC	0.473																																																	0													106.0	88.0	94.0					7																	6084230		2203	4300	6503	SO:0001819	synonymous_variant	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.693C>A	7.37:g.6084230G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T231	ENST00000199389.6	37	c.693	CCDS5345.1	7																																																																																			EIF2AK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.473	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	G	NM_014413		6084230	-1	no_errors	ENST00000199389	ensembl	human	known	70_37	silent	SNP	0.135	T
MT-ND1	4535	genome.wustl.edu	37	M	1216	1216	+	5'Flank	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chrM:1216C>T	ENST00000361390.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGTTCTGTAATCGATAAACC	0.483																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1216C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.23	-	-		0.483	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		C	YP_003024026		1216	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	T
MT-ND1	4535	genome.wustl.edu	37	M	1411	1411	+	5'Flank	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chrM:1411G>A	ENST00000361390.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGAAACTTAAGGGTCGAAGG	0.488																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1411G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.23	-	-		0.488	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		G	YP_003024026		1411	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	A
RP11-43F13.4	0	genome.wustl.edu	37	5	1004310	1004310	+	lincRNA	SNP	G	G	T	rs3083863|rs60001138|rs113972325|rs61651856|rs201642892		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr5:1004310G>T	ENST00000606540.1	+	0	0				AC116351.2_ENST00000408317.1_RNA																							AGGGGACgtgggtgtgtgtgt	0.592																																																	0																																												0																															5.37:g.1004310G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000606540.1	37	NULL		5																																																																																			AC116351.2	-	-		0.592	RP11-43F13.4-001	KNOWN	basic	lincRNA	ENSG00000221244	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000470457.1	G			1004310	+1	no_errors	ENST00000408317	ensembl	human	novel	70_37	rna	SNP	0.034	T
MIER2	54531	genome.wustl.edu	37	19	306093	306094	+	3'UTR	INS	-	-	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:306093_306094insA	ENST00000264819.4	-	0	2244_2245				CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TTCCTGAAGTGGAGACGATGGG	0.658																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.*597->T	19.37:g.306093_306094insA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULM7	RNA	INS	-	NULL	ENST00000264819.4	37	NULL	CCDS32855.1	19																																																																																			CTD-3113P16.5	-	-		0.658	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267124	Clone_based_vega_gene	protein_coding	OTTHUMT00000451784.1	-	XM_041843		306094	+1	no_errors	ENST00000591533	ensembl	human	known	70_37	rna	INS	1.000:0.981	A
FMN2	56776	genome.wustl.edu	37	1	240256097	240256097	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:240256097G>A	ENST00000319653.9	+	1	918	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	230					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCAGGGCGCCGAGGAGCCTGC	0.721																																																	0													7.0	9.0	8.0					1																	240256097		2151	4205	6356	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.688G>A	1.37:g.240256097G>A	ENSP00000318884:p.Glu230Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.E230K	ENST00000319653.9	37	c.688	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585257	0.28268	.	.	ENSG00000155816	ENST00000319653	T	0.29917	1.55	4.34	2.22	0.28083	.	0.458425	0.20523	N	0.090680	T	0.23249	0.0562	L	0.47716	1.5	0.09310	N	0.999997	B	0.22211	0.066	B	0.14023	0.01	T	0.13656	-1.0501	10	0.34782	T	0.22	.	7.8647	0.29530	0.0:0.1773:0.6397:0.1829	.	230	Q9NZ56	FMN2_HUMAN	K	230	ENSP00000318884:E230K	ENSP00000318884:E230K	E	+	1	0	FMN2	238322720	0.916000	0.31088	0.897000	0.35233	0.921000	0.55340	1.518000	0.35877	0.917000	0.36895	0.456000	0.33151	GAG	FMN2	-	NULL		0.721	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	G	XM_371352		240256097	+1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.093	A
FN3KRP	79672	genome.wustl.edu	37	17	80684800	80684800	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:80684800C>G	ENST00000269373.6	+	6	756	c.683C>G	c.(682-684)tCt>tGt	p.S228C	RP11-388C12.5_ENST00000570919.1_lincRNA|FN3KRP_ENST00000535965.1_Missense_Mutation_p.S178C	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	228							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GAGGATTCCTCTGGGCCGGTG	0.542																																																	0													67.0	70.0	69.0					17																	80684800		2203	4300	6503	SO:0001583	missense	79672			AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.683C>G	17.37:g.80684800C>G	ENSP00000269373:p.Ser228Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q969F4|Q9H0U7	Missense_Mutation	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.S228C	ENST00000269373.6	37	c.683	CCDS11817.1	17	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601564	0.46423	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.53423	0.62;0.62	5.82	4.79	0.61399	Protein kinase-like domain (1);	0.596342	0.19457	N	0.113797	T	0.65984	0.2744	M	0.77103	2.36	0.09310	N	1	D	0.53312	0.959	P	0.59115	0.852	T	0.60367	-0.7277	10	0.66056	D	0.02	-20.5003	15.3587	0.74453	0.1402:0.8597:0.0:0.0	.	228	Q9HA64	KT3K_HUMAN	C	228;178	ENSP00000269373:S228C;ENSP00000444994:S178C	ENSP00000269373:S228C	S	+	2	0	FN3KRP	78278089	0.603000	0.26924	0.230000	0.23976	0.354000	0.29330	2.036000	0.41165	2.761000	0.94854	0.655000	0.94253	TCT	FN3KRP	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase		0.542	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3KRP	HGNC	protein_coding	OTTHUMT00000439219.1	C	NM_024619		80684800	+1	no_errors	ENST00000269373	ensembl	human	known	70_37	missense	SNP	0.011	G
FOXP1	27086	genome.wustl.edu	37	3	71090577	71090577	+	Silent	SNP	T	T	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:71090577T>A	ENST00000318789.4	-	11	1296	c.771A>T	c.(769-771)acA>acT	p.T257T	FOXP1_ENST00000498215.1_Silent_p.T257T|FOXP1_ENST00000475937.1_Silent_p.T257T|FOXP1_ENST00000468577.1_Silent_p.T257T|FOXP1_ENST00000484350.1_Silent_p.T181T|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000491238.1_Silent_p.T259T|FOXP1_ENST00000493089.1_Silent_p.T257T	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	257					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGGAGACACATGTCGTGGTCA	0.488			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													292.0	245.0	261.0					3																	71090577		2203	4300	6503	SO:0001819	synonymous_variant	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.771A>T	3.37:g.71090577T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T257	ENST00000318789.4	37	c.771	CCDS2914.1	3																																																																																			FOXP1	-	NULL		0.488	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	T	NM_032682		71090577	-1	no_errors	ENST00000318789	ensembl	human	known	70_37	silent	SNP	0.997	A
GABRE	2564	genome.wustl.edu	37	X	151123327	151123327	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chrX:151123327T>A	ENST00000370328.3	-	9	1420	c.1367A>T	c.(1366-1368)tAc>tTc	p.Y456F	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	456					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATGCAGAAGTACTTCTTAAA	0.597																																																	0													52.0	50.0	50.0					X																	151123327		2203	4300	6503	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1367A>T	X.37:g.151123327T>A	ENSP00000359353:p.Tyr456Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Y456F	ENST00000370328.3	37	c.1367	CCDS14703.1	X	.	.	.	.	.	.	.	.	.	.	T	6.567	0.472946	0.12461	.	.	ENSG00000102287	ENST00000370328	D	0.85171	-1.95	5.68	2.98	0.34508	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.280531	0.25050	N	0.033535	T	0.76941	0.4058	N	0.10760	0.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.74768	-0.3553	10	0.02654	T	1	.	4.0767	0.09908	0.5249:0.1053:0.0:0.3698	.	456	P78334	GBRE_HUMAN	F	456	ENSP00000359353:Y456F	ENSP00000359353:Y456F	Y	-	2	0	GABRE	150873983	1.000000	0.71417	0.073000	0.20177	0.711000	0.40976	2.721000	0.47260	0.650000	0.30769	0.486000	0.48141	TAC	GABRE	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.597	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	T	NM_004961, NM_021990, NM_021984		151123327	-1	no_errors	ENST00000370328	ensembl	human	known	70_37	missense	SNP	0.990	A
GAD1	2571	genome.wustl.edu	37	2	171678647	171678647	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr2:171678647C>G	ENST00000358196.3	+	3	683	c.133C>G	c.(133-135)Ctc>Gtc	p.L45V	GAD1_ENST00000375272.1_Missense_Mutation_p.L45V|GAD1_ENST00000344257.5_Missense_Mutation_p.L45V|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	45					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AAAACTGGGGCTCAAGATCTG	0.662																																																	0													53.0	46.0	48.0					2																	171678647		2203	4300	6503	SO:0001583	missense	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.133C>G	2.37:g.171678647C>G	ENSP00000350928:p.Leu45Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L45V	ENST00000358196.3	37	c.133	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.275128	0.40194	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;T;T;T	0.78707	-1.2;2.39;0.52;0.52;-1.07;-1.06	5.18	5.18	0.71444	.	0.224693	0.46442	D	0.000295	T	0.61185	0.2327	N	0.22421	0.69	0.42899	D	0.994222	B;B	0.33171	0.0;0.4	B;B	0.28011	0.002;0.085	T	0.62077	-0.6930	10	0.02654	T	1	-11.8315	17.0382	0.86482	0.0:1.0:0.0:0.0	.	45;45	Q99259;Q99259-3	DCE1_HUMAN;.	V	45	ENSP00000402366:L45V;ENSP00000350928:L45V;ENSP00000364421:L45V;ENSP00000341167:L45V;ENSP00000405917:L45V;ENSP00000394255:L45V	ENSP00000341167:L45V	L	+	1	0	GAD1	171386893	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.471000	0.60182	2.696000	0.92011	0.561000	0.74099	CTC	GAD1	-	NULL		0.662	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	C			171678647	+1	no_errors	ENST00000358196	ensembl	human	known	70_37	missense	SNP	0.999	G
GOLGA4	2803	genome.wustl.edu	37	3	37360696	37360697	+	Intron	INS	-	-	T	rs532989212		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:37360696_37360697insT	ENST00000361924.2	+	12	1919				GOLGA4_ENST00000356847.4_Intron|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4						Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GTAAGTGACTATTTTTTTTTTT	0.416																																																	0																																										SO:0001627	intron_variant	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1545+11->T	3.37:g.37360707_37360707dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	RNA	INS	-	NULL	ENST00000361924.2	37	NULL	CCDS2666.1	3																																																																																			GOLGA4	-	-		0.416	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	-	NM_002078		37360697	+1	no_errors	ENST00000435830	ensembl	human	known	70_37	rna	INS	0.000:0.005	T
GOLGB1	2804	genome.wustl.edu	37	3	121417605	121417605	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:121417605T>C	ENST00000340645.5	-	13	1875	c.1750A>G	c.(1750-1752)Agg>Ggg	p.R584G	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R589G	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	584					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R584G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCTCAGCCCTTTTTCCCTGG	0.363																																																	1	Substitution - Missense(1)	prostate(1)											82.0	85.0	84.0					3																	121417605		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1750A>G	3.37:g.121417605T>C	ENSP00000341848:p.Arg584Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.R584G	ENST00000340645.5	37	c.1750	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	5.981	0.364872	0.11296	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23348	2.49;2.49;1.91	5.43	4.25	0.50352	.	0.457306	0.22595	N	0.058022	T	0.25901	0.0631	L	0.57536	1.79	0.09310	N	1	P;P;P;P;B	0.39480	0.493;0.675;0.675;0.675;0.287	B;B;B;B;B	0.39379	0.079;0.298;0.154;0.154;0.053	T	0.09530	-1.0670	10	0.35671	T	0.21	.	9.7072	0.40222	0.0:0.0:0.339:0.661	.	509;548;589;589;584	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	G	584;589;548;396	ENSP00000341848:R584G;ENSP00000377275:R589G;ENSP00000418231:R548G	ENSP00000341848:R584G	R	-	1	2	GOLGB1	122900295	0.528000	0.26314	0.695000	0.30226	0.589000	0.36550	1.134000	0.31442	1.033000	0.39918	0.533000	0.62120	AGG	GOLGB1	-	NULL		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	T	NM_004487		121417605	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.177	C
GTPBP1	9567	genome.wustl.edu	37	22	39112679	39112679	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr22:39112679G>A	ENST00000216044.5	+	4	741	c.508G>A	c.(508-510)Gat>Aat	p.D170N		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	170	G1. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGGCAACGTGGATGCTGGCAA	0.532																																																	0													36.0	38.0	37.0					22																	39112679		2203	4300	6503	SO:0001583	missense	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.508G>A	22.37:g.39112679G>A	ENSP00000216044:p.Asp170Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IC67	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.D170N	ENST00000216044.5	37	c.508	CCDS13977.2	22	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863063	0.91511	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.81078	-1.45;-1.45	5.27	4.22	0.49857	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90965	0.4815	10	0.56958	D	0.05	.	15.6103	0.76710	0.0:0.1382:0.8618:0.0	.	170	O00178	GTPB1_HUMAN	N	170;89	ENSP00000216044:D170N;ENSP00000442881:D89N	ENSP00000216044:D170N	D	+	1	0	GTPBP1	37442625	1.000000	0.71417	0.997000	0.53966	0.844000	0.47949	7.905000	0.87416	1.145000	0.42336	0.563000	0.77884	GAT	GTPBP1	-	pfam_EF_GTP-bd_dom		0.532	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	HGNC	protein_coding	OTTHUMT00000075532.1	G	NM_004286		39112679	+1	no_errors	ENST00000216044	ensembl	human	known	70_37	missense	SNP	1.000	A
HMGN2	3151	genome.wustl.edu	37	1	26801752	26801752	+	3'UTR	SNP	T	T	A	rs549673440	byFrequency	TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:26801752T>A	ENST00000361427.5	+	0	480				HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2							chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TTTTTTTTTTTAAAAGCTATG	0.313													T|||	28	0.00559105	0.0166	0.0014	5008	,	,		17116	0.002		0.0	False		,,,				2504	0.0031																0																																										SO:0001624	3_prime_UTR_variant	3151			BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.*113T>A	1.37:g.26801752T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VGD5|Q6FGI5|Q96C64	RNA	SNP	-	NULL	ENST00000361427.5	37	NULL	CCDS283.1	1																																																																																			HMGN2	-	-		0.313	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN2	HGNC	protein_coding	OTTHUMT00000009901.1	T	NM_005517		26801752	+1	no_errors	ENST00000460563	ensembl	human	known	70_37	rna	SNP	1.000	A
HYOU1	10525	genome.wustl.edu	37	11	118922845	118922845	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:118922845G>A	ENST00000404233.3	-	11	1286	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	HYOU1_ENST00000529972.1_Missense_Mutation_p.R388W|HYOU1_ENST00000543287.1_Missense_Mutation_p.R301W|HYOU1_ENST00000525859.1_Missense_Mutation_p.R388W	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	388					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTGGGGACCCGAGTGGCCCCA	0.602																																																	0													81.0	81.0	81.0					11																	118922845		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1162C>T	11.37:g.118922845G>A	ENSP00000384144:p.Arg388Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R388W	ENST00000404233.3	37	c.1162	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847274	0.91277	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	5.26	5.26	0.73747	Heat shock protein 70, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.34279	0.0892	H	0.98111	4.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.57642	-0.7776	10	0.87932	D	0	-22.5266	19.0611	0.93093	0.0:0.0:1.0:0.0	.	379;432;388;388	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	W	388;379;388;388;237;388;431;301;388	ENSP00000384144:R388W;ENSP00000437313:R388W;ENSP00000433397:R388W;ENSP00000442727:R301W;ENSP00000431874:R388W	ENSP00000278752:R379W	R	-	1	2	HYOU1	118428055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.924000	0.70054	2.735000	0.93741	0.655000	0.94253	CGG	HYOU1	-	pfam_Hsp_70_fam,prints_Hsp_70_fam		0.602	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	G	NM_006389		118922845	-1	no_errors	ENST00000404233	ensembl	human	known	70_37	missense	SNP	1.000	A
IL17C	27189	genome.wustl.edu	37	16	88705500	88705500	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr16:88705500G>A	ENST00000244241.4	+	2	167	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	40					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTACTCGGCTGAGGAACTGCC	0.677																																																	0													58.0	67.0	64.0					16																	88705500		1991	4151	6142	SO:0001583	missense	27189			AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.118G>A	16.37:g.88705500G>A	ENSP00000244241:p.Glu40Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIG8|Q9HC75	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.E40K	ENST00000244241.4	37	c.118	CCDS42217.1	16	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964522	0.53507	.	.	ENSG00000124391	ENST00000244241	T	0.49720	0.77	5.04	4.06	0.47325	.	0.290888	0.28354	N	0.015641	T	0.45013	0.1321	L	0.34521	1.04	0.27107	N	0.962466	P	0.51791	0.948	P	0.48738	0.588	T	0.38845	-0.9642	10	0.56958	D	0.05	-12.3697	13.2055	0.59793	0.0:0.1604:0.8396:0.0	.	40	Q9P0M4	IL17C_HUMAN	K	40	ENSP00000244241:E40K	ENSP00000244241:E40K	E	+	1	0	IL17C	87233001	0.962000	0.33011	0.039000	0.18376	0.082000	0.17680	2.462000	0.45049	1.074000	0.40909	0.555000	0.69702	GAG	IL17C	-	pfam_Interleukin-17		0.677	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17C	HGNC	protein_coding	OTTHUMT00000422575.1	G	NM_013278		88705500	+1	no_errors	ENST00000244241	ensembl	human	known	70_37	missense	SNP	0.777	A
INPP5D	3635	genome.wustl.edu	37	2	234112927	234112927	+	Missense_Mutation	SNP	G	G	A	rs201032928		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr2:234112927G>A	ENST00000359570.5	+	28	3095	c.3095G>A	c.(3094-3096)cGg>cAg	p.R1032Q	RN7SL32P_ENST00000580514.1_RNA|INPP5D_ENST00000455936.2_Missense_Mutation_p.R796Q|INPP5D_ENST00000450745.1_Missense_Mutation_p.R796Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1044	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AAAATGCCGCGGAAGGAACCC	0.642																																					NSCLC(82;1215 1426 16163 20348 41018)												0								G	GLN/ARG,GLN/ARG	0,3824		0,0,1912	35.0	45.0	42.0		2391,2391	3.0	0.4	2		42	4,8228		0,4,4112	yes	missense,missense	INPP5D	NM_001017915.1,NM_005541.3	43,43	0,4,6024	AA,AG,GG		0.0486,0.0,0.0332	possibly-damaging,possibly-damaging	1044/1190,1043/1189	234112927	4,12052	1912	4116	6028	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.3095G>A	2.37:g.234112927G>A	ENSP00000352575:p.Arg1032Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.R1032Q	ENST00000359570.5	37	c.3095		2	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241063	0.58995	0.0	4.86E-4	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96745	-4.07;-4.1;-4.1;-4.11;-4.11;-4.11	4.83	2.99	0.34606	.	0.376195	0.27856	N	0.017577	D	0.93245	0.7848	.	.	.	0.24107	N	0.995856	P;P	0.50443	0.935;0.893	P;B	0.44623	0.455;0.267	D	0.86258	0.1653	9	0.31617	T	0.26	.	7.9029	0.29744	0.0867:0.1615:0.7518:0.0	.	1043;1044	Q92835-2;Q92835	.;SHIP1_HUMAN	Q	1032;796;796;665;665;665	ENSP00000352575:R1032Q;ENSP00000407916:R796Q;ENSP00000404610:R796Q;ENSP00000400151:R665Q;ENSP00000397421:R665Q;ENSP00000405338:R665Q	ENSP00000352575:R1032Q	R	+	2	0	INPP5D	233777666	1.000000	0.71417	0.433000	0.26760	0.940000	0.58332	4.462000	0.60121	0.527000	0.28560	0.655000	0.94253	CGG	INPP5D	-	NULL		0.642	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		G	NM_001017915		234112927	+1	no_errors	ENST00000359570	ensembl	human	known	70_37	missense	SNP	0.963	A
ITGA5	3678	genome.wustl.edu	37	12	54797013	54797013	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr12:54797013C>A	ENST00000293379.4	-	18	2133	c.1872G>T	c.(1870-1872)agG>agT	p.R624S	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	624					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GTAGGGCTGGCCTGAGGCCGT	0.587																																																	0													143.0	154.0	150.0					12																	54797013		2203	4300	6503	SO:0001583	missense	3678				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1872G>T	12.37:g.54797013C>A	ENSP00000293379:p.Arg624Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96HA5	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R624S	ENST00000293379.4	37	c.1872	CCDS8880.1	12	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189402	0.38707	.	.	ENSG00000161638	ENST00000293379	T	0.44083	0.93	5.16	-0.342	0.12635	Integrin alpha-2 (1);	0.620936	0.16632	N	0.206007	T	0.32793	0.0841	L	0.55481	1.735	0.39893	D	0.973794	B	0.33171	0.4	B	0.36504	0.226	T	0.15178	-1.0446	10	0.51188	T	0.08	.	2.6904	0.05119	0.1275:0.5113:0.1248:0.2365	.	624	P08648	ITA5_HUMAN	S	624	ENSP00000293379:R624S	ENSP00000293379:R624S	R	-	3	2	ITGA5	53083280	0.536000	0.26378	0.301000	0.25044	0.584000	0.36387	0.106000	0.15354	0.015000	0.14971	0.484000	0.47621	AGG	ITGA5	-	pfam_Integrin_alpha-2		0.587	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA5	HGNC	protein_coding	OTTHUMT00000406174.1	C			54797013	-1	no_errors	ENST00000293379	ensembl	human	known	70_37	missense	SNP	0.730	A
KAT6B	23522	genome.wustl.edu	37	10	76790423	76790423	+	Silent	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr10:76790423C>T	ENST00000287239.4	+	18	6330	c.5841C>T	c.(5839-5841)tcC>tcT	p.S1947S	KAT6B_ENST00000372724.1_Silent_p.S1655S|KAT6B_ENST00000372711.1_Silent_p.S1764S|KAT6B_ENST00000372725.1_Silent_p.S1655S|KAT6B_ENST00000372714.1_Silent_p.S1655S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1947	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ATGGGCGCTCCCAGACTGTAG	0.542																																																	0													91.0	91.0	91.0					10																	76790423		2203	4300	6503	SO:0001819	synonymous_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5841C>T	10.37:g.76790423C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S1947	ENST00000287239.4	37	c.5841	CCDS7345.1	10																																																																																			KAT6B	-	NULL		0.542	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	C	NM_012330		76790423	+1	no_errors	ENST00000287239	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNH4	23415	genome.wustl.edu	37	17	40330492	40330492	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:40330492G>A	ENST00000264661.3	-	3	646	c.314C>T	c.(313-315)tCa>tTa	p.S105L	KCNH4_ENST00000607371.1_Missense_Mutation_p.S105L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	105	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCAAAAGGCTGAGCCTGTAGG	0.532																																					NSCLC(117;707 1703 2300 21308 31858)												0													43.0	36.0	38.0					17																	40330492		2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.314C>T	17.37:g.40330492G>A	ENSP00000264661:p.Ser105Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.S105L	ENST00000264661.3	37	c.314	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253875	0.39896	.	.	ENSG00000089558	ENST00000264661	D	0.99680	-6.38	4.99	4.99	0.66335	PAS-associated, C-terminal (1);PAS fold-3 (1);PAS (1);	0.000000	0.34067	N	0.004299	D	0.99162	0.9710	M	0.77616	2.38	0.41796	D	0.989899	B	0.28026	0.198	B	0.33799	0.17	D	0.99945	1.1462	10	0.34782	T	0.22	.	13.8362	0.63410	0.0757:0.0:0.9243:0.0	.	105	Q9UQ05	KCNH4_HUMAN	L	105	ENSP00000264661:S105L	ENSP00000264661:S105L	S	-	2	0	KCNH4	37584018	0.992000	0.36948	0.954000	0.39281	0.808000	0.45660	2.149000	0.42244	2.584000	0.87258	0.563000	0.77884	TCA	KCNH4	-	pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,smart_PAC,prints_K_chnl_volt-dep_ELK,pfscan_PAS-assoc_C,tigrfam_PAS		0.532	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	G	NM_012285		40330492	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	missense	SNP	0.846	A
KCTD15	79047	genome.wustl.edu	37	19	34302236	34302236	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:34302236G>A	ENST00000430256.3	+	5	880	c.472G>A	c.(472-474)Gag>Aag	p.E158K	KCTD15_ENST00000588881.1_Missense_Mutation_p.E158K|KCTD15_ENST00000589786.1_Missense_Mutation_p.E158K|KCTD15_ENST00000284006.6_Missense_Mutation_p.E158K			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	158					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					GCAGGAGCAGGAGCAGCGGCG	0.692																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)												0																																										SO:0001583	missense	79047			AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"""potassium channel tetramerisation domain containing 15"""			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.472G>A	19.37:g.34302236G>A	ENSP00000394390:p.Glu158Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K600|Q9BVI6	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E158K	ENST00000430256.3	37	c.472	CCDS46039.1	19	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803135	0.70682	.	.	ENSG00000153885	ENST00000430256;ENST00000284006;ENST00000422820	T;T	0.44482	0.92;0.92	5.02	5.02	0.67125	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	L	0.54323	1.7	0.80722	D	1	B;B	0.19706	0.038;0.016	B;B	0.14023	0.01;0.009	T	0.20672	-1.0268	10	0.26408	T	0.33	.	17.3334	0.87272	0.0:0.0:1.0:0.0	.	158;158	Q96SI1;Q96SI1-2	KCD15_HUMAN;.	K	158;158;161	ENSP00000394390:E158K;ENSP00000284006:E158K	ENSP00000284006:E158K	E	+	1	0	KCTD15	38994076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.403000	0.97302	2.339000	0.79563	0.591000	0.81541	GAG	KCTD15	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.692	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD15	HGNC	protein_coding	OTTHUMT00000451462.2	G	NM_024076		34302236	+1	no_errors	ENST00000430256	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA0319L	79932	genome.wustl.edu	37	1	35906654	35906654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:35906654G>A	ENST00000325722.3	-	20	3190	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Nonsense_Mutation_p.R423*	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	986						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R986R(4)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTACCTGCTCGGGAGGTTGGC	0.542																																																	4	Substitution - coding silent(4)	lung(4)											140.0	129.0	133.0					1																	35906654		2203	4300	6503	SO:0001587	stop_gained	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2956C>T	1.37:g.35906654G>A	ENSP00000318406:p.Arg986*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Nonsense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.R986*	ENST00000325722.3	37	c.2956	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841592	0.51057	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	.	.	.	4.73	2.67	0.31697	.	0.468547	0.21526	N	0.073127	.	.	.	.	.	.	0.48087	D	0.999581	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-7.1625	9.9892	0.41860	0.0:0.0:0.521:0.479	.	.	.	.	X	986;423;986	.	ENSP00000318406:R986X	R	-	1	2	KIAA0319L	35679241	1.000000	0.71417	0.531000	0.27976	0.030000	0.12068	3.684000	0.54671	1.199000	0.43173	-0.310000	0.09108	CGA	KIAA0319L	-	NULL		0.542	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	G	NM_024874		35906654	-1	no_errors	ENST00000325722	ensembl	human	known	70_37	nonsense	SNP	0.422	A
KRTAP11-1	337880	genome.wustl.edu	37	21	32253413	32253413	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr21:32253413G>A	ENST00000332378.4	-	1	461	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	144	4 X 10 AA approximate repeats.					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GACCCCACAGGCTGGCTGGCA	0.597																																																	0													59.0	61.0	60.0					21																	32253413		2203	4300	6503	SO:0001583	missense	337880			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.431C>T	21.37:g.32253413G>A	ENSP00000330720:p.Ala144Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4I8	Missense_Mutation	SNP	pfam_PMG	p.A144V	ENST00000332378.4	37	c.431	CCDS13608.1	21	.	.	.	.	.	.	.	.	.	.	G	3.319	-0.139158	0.06669	.	.	ENSG00000182591	ENST00000332378	T	0.03094	4.05	5.25	2.46	0.29980	.	0.422284	0.21335	N	0.076226	T	0.03564	0.0102	L	0.39633	1.23	0.26801	N	0.969195	B	0.13145	0.007	B	0.17098	0.017	T	0.43426	-0.9392	10	0.18710	T	0.47	-4.1135	8.9124	0.35561	0.2484:0.0:0.7516:0.0	.	144	Q8IUC1	KR111_HUMAN	V	144	ENSP00000330720:A144V	ENSP00000330720:A144V	A	-	2	0	KRTAP11-1	31175284	0.236000	0.23804	0.887000	0.34795	0.775000	0.43874	1.815000	0.38981	0.320000	0.23234	-0.142000	0.14014	GCC	KRTAP11-1	-	pfam_PMG		0.597	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP11-1	HGNC	protein_coding	OTTHUMT00000128225.1	G			32253413	-1	no_errors	ENST00000332378	ensembl	human	known	70_37	missense	SNP	0.981	A
LIFR	3977	genome.wustl.edu	37	5	38511901	38511901	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr5:38511901T>C	ENST00000263409.4	-	6	889	c.727A>G	c.(727-729)Aac>Gac	p.N243D	LIFR_ENST00000453190.2_Missense_Mutation_p.N243D|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	243					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAAGAAATGTTCTTCACAGGG	0.348			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													59.0	59.0	59.0					5																	38511901		2203	4300	6503	SO:0001583	missense	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.727A>G	5.37:g.38511901T>C	ENSP00000263409:p.Asn243Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6LCD9	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.N243D	ENST00000263409.4	37	c.727	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	T	14.00	2.403682	0.42613	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.29142	1.58;1.58	5.7	5.7	0.88788	.	0.380659	0.27861	N	0.017555	T	0.26195	0.0639	L	0.50919	1.6	0.31431	N	0.673184	B	0.25743	0.133	B	0.18263	0.021	T	0.22626	-1.0211	10	0.14252	T	0.57	-14.1854	12.3548	0.55169	0.0:0.0:0.0:1.0	.	243	P42702	LIFR_HUMAN	D	243	ENSP00000263409:N243D;ENSP00000398368:N243D	ENSP00000263409:N243D	N	-	1	0	LIFR	38547658	0.996000	0.38824	0.983000	0.44433	0.889000	0.51656	4.481000	0.60250	2.183000	0.69458	0.477000	0.44152	AAC	LIFR	-	NULL		0.348	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	T	NM_002310		38511901	-1	no_errors	ENST00000263409	ensembl	human	known	70_37	missense	SNP	0.886	C
LRCH1	23143	genome.wustl.edu	37	13	47315857	47315857	+	Silent	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr13:47315857C>T	ENST00000389798.3	+	19	2258	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L	LRCH1_ENST00000311191.6_Intron|LRCH1_ENST00000389797.3_Silent_p.L722L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	687	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTGGCACTCGGGGAGAAAG	0.512																																																	0													315.0	322.0	320.0					13																	47315857		2203	4300	6503	SO:0001819	synonymous_variant	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2061C>T	13.37:g.47315857C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.L687	ENST00000389798.3	37	c.2061	CCDS31972.1	13																																																																																			LRCH1	-	superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.512	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	C	NM_015116		47315857	+1	no_errors	ENST00000389798	ensembl	human	known	70_37	silent	SNP	0.969	T
MDP1	145553	genome.wustl.edu	37	14	24683549	24683549	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr14:24683549C>G	ENST00000288087.7	-	5	481	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	TM9SF1_ENST00000556387.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank|MDP1_ENST00000396833.2_Intron|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.E141Q|MDP1_ENST00000532557.1_Intron|CHMP4A_ENST00000530996.1_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	124						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						TTCCGCCTCTCATCATCAAAG	0.468																																																	0													141.0	135.0	137.0					14																	24683549		2203	4300	6503	SO:0001583	missense	145553			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.370G>C	14.37:g.24683549C>G	ENSP00000288087:p.Glu124Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86Y84|Q8NAD9	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC	p.E124Q	ENST00000288087.7	37	c.370	CCDS9620.1	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458438	0.84317	.	.	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97328	-4.34;-4.34	5.0	5.0	0.66597	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	0.000000	0.30383	U	0.009754	D	0.97676	0.9238	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96607	0.9449	10	0.31617	T	0.26	-17.2219	13.6713	0.62427	0.0:1.0:0.0:0.0	.	124	Q86V88	MGDP1_HUMAN	Q	124;141	ENSP00000288087:E124Q;ENSP00000431482:E141Q	ENSP00000288087:E124Q	E	-	1	0	MDP1;NEDD8-MDP1	23753389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.092000	0.57707	2.607000	0.88179	0.655000	0.94253	GAG	MDP1	-	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC		0.468	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MDP1	HGNC	protein_coding	OTTHUMT00000257367.1	C	NM_138476		24683549	-1	no_errors	ENST00000288087	ensembl	human	known	70_37	missense	SNP	1.000	G
MDS2	259283	genome.wustl.edu	37	1	23953539	23953540	+	5'Flank	DEL	GA	GA	-	rs146024280		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:23953539_23953540delGA	ENST00000374555.3	+	0	0				MDS2_ENST00000477916.1_3'UTR			Q8NDY4	MDS2_HUMAN	myelodysplastic syndrome 2 translocation associated							extracellular space (GO:0005615)				breast(1)|ovary(2)	3						AAAGGGAGGGGAGAGAGAGAGA	0.535			T	ETV6	MDS																																			Dom	yes		1	1p36	259283	myelodysplastic syndrome 2		L	0																																										SO:0001631	upstream_gene_variant	259283			AJ310434		1p36	2008-02-05			ENSG00000197880	ENSG00000197880			29633	protein-coding gene	gene with protein product		607305				12203785	Standard	NR_027042		Approved		uc001bhi.3	Q8NDY4	OTTHUMG00000002927		1.37:g.23953549_23953550delGA	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000374555.3	37	NULL		1																																																																																			MDS2	-	-		0.535	MDS2-001	KNOWN	basic|appris_principal	protein_coding	MDS2	HGNC	protein_coding	OTTHUMT00000008172.1	GA	NM_148895		23953540	+1	no_errors	ENST00000477916	ensembl	human	known	70_37	rna	DEL	0.001:0.001	-
MRPL37	51253	genome.wustl.edu	37	1	54683899	54683899	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:54683899C>G	ENST00000360840.5	+	7	1326	c.1249C>G	c.(1249-1251)Cta>Gta	p.L417V	MRPL37_ENST00000336230.6_Missense_Mutation_p.L286V|MRPL37_ENST00000605337.1_Intron	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	417					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GTTTTTAGCTCTATATTTGCA	0.527																																																	0													182.0	191.0	188.0					1																	54683899		2203	4300	6503	SO:0001583	missense	51253			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1249C>G	1.37:g.54683899C>G	ENSP00000354086:p.Leu417Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	pfam_Ribosomal_L37/S30	p.L417V	ENST00000360840.5	37	c.1249	CCDS589.1	1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904886	0.33628	.	.	ENSG00000116221	ENST00000360840;ENST00000336230	T;T	0.16597	2.33;2.33	4.94	-0.418	0.12344	.	0.283582	0.34750	N	0.003713	T	0.23370	0.0565	M	0.68952	2.095	0.36685	D	0.879244	P;D	0.56968	0.88;0.978	P;P	0.54499	0.573;0.754	T	0.13415	-1.0510	10	0.54805	T	0.06	-11.6484	4.028	0.09697	0.2424:0.4007:0.0:0.3568	.	286;417	A6NHR2;Q9BZE1	.;RM37_HUMAN	V	417;286	ENSP00000354086:L417V;ENSP00000338526:L286V	ENSP00000338526:L286V	L	+	1	2	MRPL37	54456487	0.023000	0.18921	0.993000	0.49108	0.102000	0.19082	0.065000	0.14466	0.031000	0.15407	-0.216000	0.12614	CTA	MRPL37	-	pfam_Ribosomal_L37/S30		0.527	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL37	HGNC	protein_coding	OTTHUMT00000022224.1	C	NM_016491		54683899	+1	no_errors	ENST00000360840	ensembl	human	known	70_37	missense	SNP	0.554	G
MUC5B	727897	genome.wustl.edu	37	11	1255050	1255050	+	Silent	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:1255050C>T	ENST00000529681.1	+	19	2407	c.2349C>T	c.(2347-2349)tgC>tgT	p.C783C	MUC5B_ENST00000447027.1_Silent_p.C786C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	783					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTAAGCTGCCTGGGAGCCT	0.682																																																	0													35.0	45.0	41.0					11																	1255050		2041	4175	6216	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2349C>T	11.37:g.1255050C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.C786	ENST00000529681.1	37	c.2358	CCDS44515.2	11																																																																																			MUC5B	-	smart_VWF_C		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1255050	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	1.000	T
NANOGP1	404635	genome.wustl.edu	37	12	8050926	8050926	+	RNA	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr12:8050926G>A	ENST00000607111.1	+	0	329							Q8N7R0	NANG2_HUMAN	Nanog homeobox pseudogene 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|lung(4)|prostate(1)	6						actggctgaagaatagcaatg	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		18609	0.001		0.0	False		,,,				2504	0.0																0																																												404635			AY455283		12p13.31	2014-03-20			ENSG00000176654	ENSG00000176654		"""Homeoboxes / ANTP class : NKL subclass"""	23099	pseudogene	pseudogene						15108323, 15233988	Standard	NG_006522		Approved	NANOG2	uc001qtp.1	Q8N7R0	OTTHUMG00000166020		12.37:g.8050926G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.K103	ENST00000607111.1	37	c.309		12																																																																																			NANOGP1	-	superfamily_Homeodomain-like		0.398	NANOGP1-002	KNOWN	basic	processed_transcript	NANOGP1	HGNC	pseudogene	OTTHUMT00000470953.1	G			8050926	+1	no_errors	ENST00000530989	ensembl	human	known	70_37	silent	SNP	0.002	A
NOTCH1	4851	genome.wustl.edu	37	9	139412345	139412345	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr9:139412345C>A	ENST00000277541.6	-	8	1375	c.1300G>T	c.(1300-1302)Ggc>Tgc	p.G434C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	434	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGAAGGAGCCCAGCGTGTTG	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													45.0	50.0	48.0					9																	139412345		2193	4285	6478	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1300G>T	9.37:g.139412345C>A	ENSP00000277541:p.Gly434Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.G434C	ENST00000277541.6	37	c.1300	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328489	0.81690	.	.	ENSG00000148400	ENST00000277541	D	0.99557	-6.16	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96375	0.9277	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	434	P46531	NOTC1_HUMAN	C	434	ENSP00000277541:G434C	ENSP00000277541:G434C	G	-	1	0	NOTCH1	138532166	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.584000	0.82572	2.088000	0.63022	0.462000	0.41574	GGC	NOTCH1	-	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139412345	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	A
NSUN4	387338	genome.wustl.edu	37	1	46808526	46808526	+	Intron	SNP	G	G	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:46808526G>T	ENST00000474844.1	+	1	743				NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Intron|NSUN4_ENST00000536062.1_Intron	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4						rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GCCAGCCCAAGCCCGCTAAGG	0.562																																																	0																																										SO:0001627	intron_variant	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.93+1935G>T	1.37:g.46808526G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	RNA	SNP	-	NULL	ENST00000474844.1	37	NULL	CCDS534.1	1																																																																																			NSUN4	-	-		0.562	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	G	NM_199044		46808526	+1	no_errors	ENST00000498008	ensembl	human	known	70_37	rna	SNP	0.000	T
OR52H1	390067	genome.wustl.edu	37	11	5566215	5566215	+	Missense_Mutation	SNP	C	C	T	rs369335190		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:5566215C>T	ENST00000322653.4	-	1	564	c.539G>A	c.(538-540)cGc>cAc	p.R180H	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTATGATGCGTGTCCTGCA	0.488																																																	0								T	HIS/ARG	0,4402		0,0,2201	116.0	95.0	102.0		539	-0.7	0.5	11		102	1,8593	1.2+/-3.3	0,1,4296	no	missense	OR52H1	NM_001005289.1	29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	180/321	5566215	1,12995	2201	4297	6498	SO:0001583	missense	390067			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.539G>A	11.37:g.5566215C>T	ENSP00000326259:p.Arg180His	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH26|Q6IF79	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R180H	ENST00000322653.4	37	c.539	CCDS31386.1	11	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.650553	0.00785	0.0	1.16E-4	ENSG00000181616	ENST00000322653	T	0.00107	8.72	5.37	-0.696	0.11287	GPCR, rhodopsin-like superfamily (1);	0.874050	0.10095	N	0.716748	T	0.00073	0.0002	N	0.04162	-0.26	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.01149	-1.1436	10	0.09084	T	0.74	.	10.7651	0.46288	0.0:0.4592:0.0:0.5408	.	180	Q8NGJ2	O52H1_HUMAN	H	180	ENSP00000326259:R180H	ENSP00000326259:R180H	R	-	2	0	OR52H1	5522791	0.000000	0.05858	0.472000	0.27241	0.065000	0.16274	-1.590000	0.02102	-0.292000	0.08999	-0.745000	0.03516	CGC	OR52H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	HGNC	protein_coding	OTTHUMT00000143400.1	C	NM_001005289		5566215	-1	no_errors	ENST00000322653	ensembl	human	known	70_37	missense	SNP	0.000	T
OTOG	340990	genome.wustl.edu	37	11	17574730	17574730	+	Silent	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr11:17574730C>T	ENST00000399391.2	+	4	393	c.393C>T	c.(391-393)ttC>ttT	p.F131F	OTOG_ENST00000399397.1_Silent_p.F58F	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	131	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						GCAGACGCTTCAATGCCACTG	0.607																																																	0																																										SO:0001819	synonymous_variant	340990			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.393C>T	11.37:g.17574730C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTX6|A8MUJ0|B7WPC4	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.F131	ENST00000399391.2	37	c.393	CCDS59225.1	11																																																																																			OTOG	-	pfscan_EG-like_dom		0.607	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		C			17574730	+1	no_errors	ENST00000399391	ensembl	human	known	70_37	silent	SNP	1.000	T
PCLO	27445	genome.wustl.edu	37	7	82764156	82764156	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr7:82764156G>A	ENST00000333891.9	-	3	3047	c.2710C>T	c.(2710-2712)Cgt>Tgt	p.R904C	PCLO_ENST00000423517.2_Missense_Mutation_p.R904C	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGACTGAAACGCCTTGACTGC	0.542																																																	0													148.0	146.0	146.0					7																	82764156		1955	4158	6113	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2710C>T	7.37:g.82764156G>A	ENSP00000334319:p.Arg904Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R904C	ENST00000333891.9	37	c.2710	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773631	0.31411	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.23;2.22	5.97	5.97	0.96955	.	.	.	.	.	T	0.34919	0.0914	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53861	0.736;0.736	T	0.01771	-1.1277	9	0.87932	D	0	.	19.412	0.94677	0.0:0.0:1.0:0.0	.	904;904	Q9Y6V0-5;Q9Y6V0-6	.;.	C	850;904;904	ENSP00000334319:R904C;ENSP00000388393:R904C	ENSP00000334319:R904C	R	-	1	0	PCLO	82602092	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	3.125000	0.50469	2.828000	0.97474	0.655000	0.94253	CGT	PCLO	-	NULL		0.542	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82764156	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	A
PKD1	5310	genome.wustl.edu	37	16	2152434	2152434	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr16:2152434G>T	ENST00000262304.4	-	25	9357	c.9149C>A	c.(9148-9150)gCc>gAc	p.A3050D	PKD1_ENST00000423118.1_Missense_Mutation_p.A3050D|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3050	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCGCCGAAGGCGGTGAGGTG	0.672																																																	0													5.0	7.0	6.0					16																	2152434		2021	4077	6098	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9149C>A	16.37:g.2152434G>T	ENSP00000262304:p.Ala3050Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A3050D	ENST00000262304.4	37	c.9149	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751229	0.89753	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.68765	-0.35;-0.35	4.38	4.38	0.52667	GPS domain (3);	0.177665	0.48767	D	0.000175	T	0.80396	0.4615	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	T	0.79831	-0.1637	10	0.35671	T	0.21	.	17.1166	0.86690	0.0:0.0:1.0:0.0	.	3050;3050	P98161-3;P98161	.;PKD1_HUMAN	D	3050;3050;2385	ENSP00000262304:A3050D;ENSP00000399501:A3050D	ENSP00000262304:A3050D	A	-	2	0	PKD1	2092435	1.000000	0.71417	0.978000	0.43139	0.790000	0.44656	7.440000	0.80464	2.253000	0.74438	0.455000	0.32223	GCC	PKD1	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2152434	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHM1P	440456	genome.wustl.edu	37	17	62811023	62811023	+	RNA	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:62811023G>A	ENST00000582986.1	-	0	614				RN7SL409P_ENST00000579918.1_RNA	NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										GACCAGCTCCGTCATGAGCCT	0.592																																																	0																																												440456					17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62811023G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000582986.1	37	NULL		17																																																																																			PLEKHM1P	-	-		0.592	PLEKHM1P-002	KNOWN	basic	processed_transcript	PLEKHM1P	HGNC	pseudogene	OTTHUMT00000445598.1	G	NR_024386		62811023	-1	no_errors	ENST00000580919	ensembl	human	known	70_37	rna	SNP	0.000	A
POLR2J4	84820	genome.wustl.edu	37	7	44012259	44012259	+	RNA	SNP	T	T	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr7:44012259T>A	ENST00000427076.1	-	0	1039				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		GTGTCCCTTGTAAGGCAGACC	0.612																																																	0																																												84820					7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44012259T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000427076.1	37	NULL		7																																																																																			POLR2J4	-	-		0.612	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	POLR2J4	HGNC	processed_transcript	OTTHUMT00000473169.1	T	NR_003655		44012259	-1	no_errors	ENST00000422304	ensembl	human	known	70_37	rna	SNP	0.855	A
RAP1GAP	5909	genome.wustl.edu	37	1	21991720	21991720	+	Intron	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:21991720G>A	ENST00000374765.4	-	1	53				RAP1GAP_ENST00000542643.2_5'UTR	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ttgtacggctgctcagtggca	0.512																																																	0													25.0	25.0	25.0					1																	21991720		876	1989	2865	SO:0001627	intron_variant	5909			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.147+4026C>T	1.37:g.21991720G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	RNA	SNP	-	NULL	ENST00000374765.4	37	NULL	CCDS218.1	1																																																																																			RAP1GAP	-	-		0.512	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GAP	HGNC	protein_coding	OTTHUMT00000019759.2	G	NM_002885		21991720	-1	no_errors	ENST00000464457	ensembl	human	known	70_37	rna	SNP	0.000	A
RELB	5971	genome.wustl.edu	37	19	45537560	45537560	+	Silent	SNP	G	G	C			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:45537560G>C	ENST00000221452.8	+	10	1416	c.1266G>C	c.(1264-1266)ctG>ctC	p.L422L	RELB_ENST00000540120.1_Silent_p.L422L|RELB_ENST00000505236.1_Silent_p.L419L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	422	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TTGGGGAGCTGAACAGCTCTG	0.612																																																	0													53.0	56.0	55.0					19																	45537560		1971	4142	6113	SO:0001819	synonymous_variant	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1266G>C	19.37:g.45537560G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTX7|Q9UEI7	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.L422	ENST00000221452.8	37	c.1266	CCDS46110.1	19																																																																																			RELB	-	superfamily_Ig_E-set		0.612	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	G			45537560	+1	no_errors	ENST00000221452	ensembl	human	known	70_37	silent	SNP	1.000	C
RNF213	57674	genome.wustl.edu	37	17	78262101	78262101	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:78262101G>T	ENST00000582970.1	+	4	892	c.749G>T	c.(748-750)aGc>aTc	p.S250I	RNF213_ENST00000508628.2_Missense_Mutation_p.S299I|RNF213_ENST00000319921.4_Missense_Mutation_p.S250I|RNF213_ENST00000456466.1_Missense_Mutation_p.S250I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	250					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAAGGAGGCAGCTCTGAGCCC	0.622																																																	0													41.0	45.0	44.0					17																	78262101		2203	4298	6501	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.749G>T	17.37:g.78262101G>T	ENSP00000464087:p.Ser250Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S250I	ENST00000582970.1	37	c.749	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	5.896	0.349501	0.11182	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.44083	0.93;0.93	3.83	-7.66	0.01277	.	3.160450	0.01219	N	0.008059	T	0.26810	0.0656	L	0.29908	0.895	0.09310	N	1	P	0.49090	0.919	B	0.37601	0.254	T	0.50898	-0.8773	10	0.56958	D	0.05	0.79	8.6086	0.33789	0.1463:0.3566:0.4971:0.0	.	250	Q9HCF4-2	.	I	250;299;250;250	ENSP00000392123:S250I;ENSP00000324392:S250I	ENSP00000324392:S250I	S	+	2	0	RNF213	75876696	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.940000	0.01543	-2.403000	0.00577	0.561000	0.74099	AGC	RNF213	-	NULL		0.622	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78262101	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.000	T
RNF213	57674	genome.wustl.edu	37	17	78317800	78317800	+	Silent	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr17:78317800G>A	ENST00000582970.1	+	28	6470	c.6327G>A	c.(6325-6327)agG>agA	p.R2109R	RNF213_ENST00000336301.6_Silent_p.R182R|RNF213_ENST00000508628.2_Silent_p.R2158R	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2109					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCGTCGAGGAGCTCTTCAG	0.507																																																	0													71.0	67.0	69.0					17																	78317800		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6327G>A	17.37:g.78317800G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.R2109	ENST00000582970.1	37	c.6327	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78317800	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.001	A
SCN10A	6336	genome.wustl.edu	37	3	38768438	38768438	+	Missense_Mutation	SNP	G	G	A	rs370208223		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:38768438G>A	ENST00000449082.2	-	16	2745	c.2746C>T	c.(2746-2748)Cgg>Tgg	p.R916W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	916			R -> W (found in a renal cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:21248752}.		AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R916W(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACCTGGATCCGTGCCAGGGCC	0.582																																																	2	Substitution - Missense(2)	prostate(1)|kidney(1)						G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	126.0	122.0	123.0		2746	1.9	0.6	3		123	2,8598	1.2+/-3.3	0,2,4298	no	missense	SCN10A	NM_006514.2	101	0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384	probably-damaging	916/1957	38768438	5,13001	2203	4300	6503	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2746C>T	3.37:g.38768438G>A	ENSP00000390600:p.Arg916Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.R916W	ENST00000449082.2	37	c.2746	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564211	0.65651	6.81E-4	2.33E-4	ENSG00000185313	ENST00000449082	D	0.98120	-4.73	5.03	1.91	0.25777	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.87617	2.895	0.43191	D	0.99502	D	0.89917	1.0	D	0.97110	1.0	D	0.99521	1.0958	10	0.87932	D	0	.	14.6725	0.68956	0.0:0.0:0.5126:0.4874	.	916	Q9Y5Y9	SCNAA_HUMAN	W	916	ENSP00000390600:R916W	ENSP00000390600:R916W	R	-	1	2	SCN10A	38743442	0.622000	0.27085	0.600000	0.28864	0.844000	0.47949	0.864000	0.27926	0.674000	0.31244	0.561000	0.74099	CGG	SCN10A	-	pfam_Na_trans_assoc		0.582	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	G	NM_006514		38768438	-1	no_errors	ENST00000449082	ensembl	human	known	70_37	missense	SNP	0.747	A
SCRIB	23513	genome.wustl.edu	37	8	144877630	144877630	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr8:144877630G>C	ENST00000320476.3	-	25	3680	c.3674C>G	c.(3673-3675)tCt>tGt	p.S1225C	SCRIB_ENST00000377533.3_Missense_Mutation_p.S1144C|SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000356994.2_Missense_Mutation_p.S1225C	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1225	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTCGATGGAAGAGATGCTCTC	0.677																																					Pancreas(51;966 1133 10533 14576 29674)												0													36.0	35.0	35.0					8																	144877630		2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3674C>G	8.37:g.144877630G>C	ENSP00000322938:p.Ser1225Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.S1225C	ENST00000320476.3	37	c.3674	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939334	0.73557	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.48836	1.08;1.02;0.8	4.67	4.67	0.58626	.	.	.	.	.	T	0.65637	0.2710	L	0.61218	1.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.69680	-0.5080	9	0.87932	D	0	.	14.7366	0.69419	0.0:0.0:1.0:0.0	.	1225;1225	Q14160;Q14160-3	SCRIB_HUMAN;.	C	1225;1225;1144;594	ENSP00000349486:S1225C;ENSP00000322938:S1225C;ENSP00000366756:S1144C	ENSP00000322938:S1225C	S	-	2	0	SCRIB	144949618	1.000000	0.71417	0.577000	0.28562	0.603000	0.37013	5.679000	0.68160	2.139000	0.66308	0.555000	0.69702	TCT	SCRIB	-	NULL		0.677	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144877630	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	1.000	C
SEMA3G	56920	genome.wustl.edu	37	3	52476766	52476766	+	Silent	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:52476766C>T	ENST00000231721.2	-	2	272	c.273G>A	c.(271-273)cgG>cgA	p.R91R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	91	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGCTCACCTCCCGGGGATCTG	0.617																																																	0													45.0	48.0	47.0					3																	52476766		2203	4300	6503	SO:0001819	synonymous_variant	56920				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.273G>A	3.37:g.52476766C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L9D9|Q9H7Q3	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.R91	ENST00000231721.2	37	c.273	CCDS2856.1	3																																																																																			SEMA3G	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.617	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1	C	NM_020163		52476766	-1	no_errors	ENST00000231721	ensembl	human	known	70_37	silent	SNP	0.971	T
SEC22A	26984	genome.wustl.edu	37	3	122920797	122920797	+	5'Flank	SNP	G	G	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:122920797G>T	ENST00000492595.1	+	0	0				SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_5'Flank			Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TGCACTTCGGGGCGCGTCACT	0.687																																																	0																																										SO:0001631	upstream_gene_variant	26984			AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495		3.37:g.122920797G>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE26|Q9Y682	RNA	SNP	-	NULL	ENST00000492595.1	37	NULL	CCDS3021.1	3																																																																																			SEC22A	-	-		0.687	SEC22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC22A	HGNC	protein_coding	OTTHUMT00000355769.1	G	NM_012430		122920797	+1	no_errors	ENST00000477063	ensembl	human	known	70_37	rna	SNP	0.448	T
SERPINB1	1992	genome.wustl.edu	37	6	2836122	2836122	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr6:2836122C>T	ENST00000380739.5	-	6	905	c.703G>A	c.(703-705)Gac>Aac	p.D235N	SERPINB1_ENST00000537185.1_Missense_Mutation_p.D84N|SERPINB1_ENST00000476896.1_5'Flank	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	235					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TCCTCAATGTCATCCGGCAGC	0.532																																																	0													98.0	84.0	89.0					6																	2836122		2203	4300	6503	SO:0001583	missense	1992			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.703G>A	6.37:g.2836122C>T	ENSP00000370115:p.Asp235Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D235N	ENST00000380739.5	37	c.703	CCDS4477.1	6	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953300	0.34471	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	T;T	0.17370	2.28;2.75	5.36	5.36	0.76844	Serpin domain (3);	0.158999	0.56097	D	0.000036	T	0.09686	0.0238	L	0.53671	1.685	0.43902	D	0.996531	B	0.13594	0.008	B	0.16289	0.015	T	0.02603	-1.1135	10	0.51188	T	0.08	.	11.8697	0.52513	0.0:0.9199:0.0:0.0801	.	235	P30740	ILEU_HUMAN	N	235;197;84	ENSP00000370115:D235N;ENSP00000444543:D84N	ENSP00000370115:D235N	D	-	1	0	SERPINB1	2781121	0.451000	0.25705	0.784000	0.31847	0.041000	0.13682	1.239000	0.32719	2.683000	0.91414	0.655000	0.94253	GAC	SERPINB1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.532	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB1	HGNC	protein_coding	OTTHUMT00000039637.1	C			2836122	-1	no_errors	ENST00000380739	ensembl	human	known	70_37	missense	SNP	0.997	T
SMC1A	8243	genome.wustl.edu	37	X	53438811	53438811	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chrX:53438811C>G	ENST00000322213.4	-	7	1281	c.1154G>C	c.(1153-1155)aGa>aCa	p.R385T	SMC1A_ENST00000375340.6_Missense_Mutation_p.R151T	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	385					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GGTAGCTGCTCTCTTGCTGGC	0.527																																																	0													137.0	115.0	122.0					X																	53438811		2203	4300	6503	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1154G>C	X.37:g.53438811C>G	ENSP00000323421:p.Arg385Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O14995|Q16351|Q2M228	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.R385T	ENST00000322213.4	37	c.1154	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131599	0.37630	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	T;T	0.78816	-1.21;3.04	4.64	4.64	0.57946	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	L	0.31207	0.915	0.80722	D	1	B;B;P	0.36483	0.051;0.129;0.555	B;B;B	0.34242	0.018;0.046;0.178	T	0.66280	-0.5963	10	0.27785	T	0.31	.	15.7117	0.77631	0.0:1.0:0.0:0.0	.	151;363;385	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	T	385;151	ENSP00000323421:R385T;ENSP00000364489:R151T	ENSP00000323421:R385T	R	-	2	0	SMC1A	53455536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.710000	0.61873	2.039000	0.60335	0.600000	0.82982	AGA	SMC1A	-	pfam_RecF/RecN/SMC,prints_Tropomyosin		0.527	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	C	NM_006306		53438811	-1	no_errors	ENST00000322213	ensembl	human	known	70_37	missense	SNP	1.000	G
SMIM4	440957	genome.wustl.edu	37	3	52570872	52570872	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr3:52570872G>T	ENST00000477703.1	+	1	252	c.101G>T	c.(100-102)gGa>gTa	p.G34V	SMIM4_ENST00000482728.1_Intron|SMIM4_ENST00000307106.3_Intron|SMIM4_ENST00000476842.1_Missense_Mutation_p.G34V|NT5DC2_ENST00000307076.4_5'Flank	NM_001124767.1	NP_001118239.1	Q8WVI0	SMIM4_HUMAN	small integral membrane protein 4	34						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											GTCCTGGGAGGAACGATGGAG	0.567																																																	0													153.0	153.0	153.0					3																	52570872		692	1591	2283	SO:0001583	missense	440957			AK095910	CCDS46844.1	3p21.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000168273	ENSG00000168273			37257	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 78"""	C3orf78			Standard	NM_001124767		Approved		uc003dep.2	Q8WVI0	OTTHUMG00000158726	ENST00000477703.1:c.101G>T	3.37:g.52570872G>T	ENSP00000417806:p.Gly34Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G34V	ENST00000477703.1	37	c.101	CCDS46844.1	3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152952	0.78001	.	.	ENSG00000168273	ENST00000477703;ENST00000476842	.	.	.	5.78	4.9	0.64082	.	0.068601	0.56097	D	0.000023	T	0.76863	0.4047	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.60886	0.88	T	0.80509	-0.1351	8	0.72032	D	0.01	-9.0053	14.8145	0.70020	0.0:0.1632:0.8368:0.0	.	34	Q8WVI0	CC078_HUMAN	V	34	.	ENSP00000418000:G34V	G	+	2	0	C3orf78	52545912	1.000000	0.71417	0.922000	0.36590	0.488000	0.33401	6.639000	0.74314	1.410000	0.46936	0.561000	0.74099	GGA	SMIM4	-	NULL		0.567	SMIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMIM4	HGNC	protein_coding	OTTHUMT00000351920.1	G	NM_001124767		52570872	+1	no_errors	ENST00000477703	ensembl	human	known	70_37	missense	SNP	0.997	T
SMS	6611	genome.wustl.edu	37	X	21990688	21990688	+	Splice_Site	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chrX:21990688C>T	ENST00000404933.2	+	4	580	c.328C>T	c.(328-330)Cga>Tga	p.R110*	SMS_ENST00000379404.1_Intron|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_Splice_Site_p.R14*	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	110					cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GCGGGTGAAACGGTAAGTCCA	0.388																																																	0													68.0	62.0	64.0					X																	21990688		2203	4300	6503	SO:0001630	splice_region_variant	6611			AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.329+1C>T	X.37:g.21990688C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Nonsense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase	p.R110*	ENST00000404933.2	37	c.328	CCDS14203.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.35|18.35	3.604516|3.604516	0.66445|0.66445	.|.	.|.	ENSG00000102172|ENSG00000102172	ENST00000404933;ENST00000415881|ENST00000457085	.|.	.|.	.|.	5.7|5.7	3.85|3.85	0.44370|0.44370	.|.	0.050929|.	0.85682|.	D|.	0.000000|.	.|T	.|0.60612	.|0.2282	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66192	.|-0.5985	.|3	0.13108|.	T|.	0.6|.	-14.7087|-14.7087	11.8077|11.8077	0.52165|0.52165	0.4609:0.5391:0.0:0.0|0.4609:0.5391:0.0:0.0	.|.	.|.	.|.	.|.	X|M	110;14|201	.|.	ENSP00000385746:R110X|.	R|T	+|+	1|2	2|0	SMS|SMS	21900609|21900609	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.408000|0.408000	0.30992|0.30992	1.240000|1.240000	0.32731|0.32731	0.492000|0.492000	0.27815|0.27815	0.600000|0.600000	0.82982|0.82982	CGA|ACG	SMS	-	NULL		0.388	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMS	HGNC	protein_coding	OTTHUMT00000056032.1	C	NM_004595	Nonsense_Mutation	21990688	+1	no_errors	ENST00000404933	ensembl	human	known	70_37	nonsense	SNP	0.996	T
FAM69B	138311	genome.wustl.edu	37	9	139621328	139621329	+	IGR	INS	-	-	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr9:139621328_139621329insA	ENST00000371692.4	+	0	1668				SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000391185.1_RNA|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CCTCTAGGGGCAGTGTCCTGTT	0.52											OREG0019621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001628	intergenic_variant	677804				CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940		9.37:g.139621329_139621329dupA		Somatic	1650	WXS	Illumina HiSeq	Phase_IV	Q5VUD7|Q8N5N0|Q8WYU5	RNA	INS	-	NULL	ENST00000371692.4	37	NULL	CCDS7004.1	9																																																																																			SNORA17	-	-		0.520	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA17	HGNC	protein_coding	OTTHUMT00000055102.1	-	NM_152421		139621329	-1	no_errors	ENST00000391185	ensembl	human	known	70_37	rna	INS	1.000:0.995	A
SPANXN1	494118	genome.wustl.edu	37	X	144337280	144337280	+	Silent	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chrX:144337280C>T	ENST00000370493.3	+	2	924	c.165C>T	c.(163-165)tgC>tgT	p.C55C		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	55								p.C55C(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGTTTTGCTACAGGAAAG	0.433																																																	2	Substitution - coding silent(2)	lung(2)											181.0	156.0	164.0					X																	144337280		2203	4297	6500	SO:0001819	synonymous_variant	494118				CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.165C>T	X.37:g.144337280C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_SPANX_prot	p.C55	ENST00000370493.3	37	c.165	CCDS35421.1	X																																																																																			SPANXN1	-	pfam_SPANX_prot		0.433	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN1	HGNC	protein_coding	OTTHUMT00000058631.2	C	NM_001009614		144337280	+1	no_errors	ENST00000370493	ensembl	human	known	70_37	silent	SNP	0.001	T
STK11	6794	genome.wustl.edu	37	19	1223012	1223012	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:1223012G>A	ENST00000326873.7	+	8	2122	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	317					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.E317*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCGGCTGAAGCACCAGT	0.647		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	21	Whole gene deletion(20)|Substitution - Nonsense(1)	cervix(14)|lung(3)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											31.0	38.0	36.0					19																	1223012		2090	4213	6303	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.949G>A	19.37:g.1223012G>A	ENSP00000324856:p.Glu317Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBX7|E7EW76	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E317K	ENST00000326873.7	37	c.949	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803437	0.31869	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.82803	-1.65	3.79	3.79	0.43588	Protein kinase-like domain (1);	0.099522	0.64402	D	0.000002	T	0.79088	0.4387	M	0.70275	2.135	0.58432	D	0.999999	B	0.26845	0.161	B	0.26614	0.071	T	0.73764	-0.3880	10	0.06236	T	0.91	-32.2594	14.8208	0.70070	0.0:0.0:1.0:0.0	.	317	Q15831	STK11_HUMAN	K	317	ENSP00000324856:E317K	ENSP00000324856:E317K	E	+	1	0	STK11	1174012	1.000000	0.71417	0.007000	0.13788	0.002000	0.02628	9.261000	0.95576	1.950000	0.56595	0.462000	0.41574	GAA	STK11	-	superfamily_Kinase-like_dom		0.647	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	G	NM_000455		1223012	+1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	0.985	A
STK11	6794	genome.wustl.edu	37	19	1223135	1223135	+	Missense_Mutation	SNP	G	G	A	rs587778696		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:1223135G>A	ENST00000326873.7	+	8	2245	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	358					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGACATCGAGGATGACATCAT	0.657		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	20	Whole gene deletion(20)	cervix(14)|lung(2)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											53.0	64.0	60.0					19																	1223135		2144	4258	6402	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.1072G>A	19.37:g.1223135G>A	ENSP00000324856:p.Asp358Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBX7|E7EW76	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D358N	ENST00000326873.7	37	c.1072	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	.	11.30	1.598842	0.28445	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	T	0.69685	-0.42	3.79	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.71581	2.175	0.80722	D	1	B	0.30511	0.282	B	0.23574	0.047	T	0.54761	-0.8245	10	0.18710	T	0.47	-36.9147	11.6282	0.51158	0.0:0.0:0.8208:0.1792	.	358	Q15831	STK11_HUMAN	N	358	ENSP00000324856:D358N	ENSP00000324856:D358N	D	+	1	0	STK11	1174135	1.000000	0.71417	0.879000	0.34478	0.001000	0.01503	8.876000	0.92379	0.784000	0.33661	-0.521000	0.04368	GAT	STK11	-	NULL		0.657	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	G	NM_000455		1223135	+1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	1.000	A
STK11	6794	genome.wustl.edu	37	19	1223138	1223138	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:1223138G>T	ENST00000326873.7	+	8	2248	c.1075G>T	c.(1075-1077)Gac>Tac	p.D359Y		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	359					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGAGGATGACATCATCTA	0.657		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	20	Whole gene deletion(20)	cervix(14)|lung(2)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											52.0	63.0	59.0					19																	1223138		2143	4254	6397	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.1075G>T	19.37:g.1223138G>T	ENSP00000324856:p.Asp359Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBX7|E7EW76	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D359Y	ENST00000326873.7	37	c.1075	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	.	12.07	1.827707	0.32329	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	T	0.69926	-0.44	3.79	2.75	0.32379	.	0.163915	0.52532	D	0.000064	T	0.60919	0.2306	M	0.62723	1.935	0.54753	D	0.99998	B	0.31859	0.343	B	0.31245	0.126	T	0.61505	-0.7049	10	0.54805	T	0.06	-23.2492	10.1418	0.42740	0.0986:0.0:0.9014:0.0	.	359	Q15831	STK11_HUMAN	Y	359	ENSP00000324856:D359Y	ENSP00000324856:D359Y	D	+	1	0	STK11	1174138	1.000000	0.71417	0.836000	0.33094	0.002000	0.02628	7.067000	0.76741	0.805000	0.34159	0.462000	0.41574	GAC	STK11	-	NULL		0.657	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	G	NM_000455		1223138	+1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	1.000	T
TCEB3B	51224	genome.wustl.edu	37	18	44559875	44559875	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr18:44559875A>T	ENST00000332567.4	-	1	2113	c.1761T>A	c.(1759-1761)aaT>aaA	p.N587K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	587	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAAACAATGATTCCTCCGTA	0.517																																																	0													61.0	60.0	60.0					18																	44559875		2203	4300	6503	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1761T>A	18.37:g.44559875A>T	ENSP00000331302:p.Asn587Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.N587K	ENST00000332567.4	37	c.1761	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	A	8.020	0.759523	0.15846	.	.	ENSG00000206181	ENST00000332567	T	0.27720	1.65	1.28	-0.0444	0.13855	.	1.316200	0.05381	N	0.537143	T	0.10937	0.0267	N	0.02802	-0.49	0.20975	N	0.999812	B	0.10296	0.003	B	0.04013	0.001	T	0.25882	-1.0119	10	0.06099	T	0.92	1.1094	5.2856	0.15700	0.7048:0.2952:0.0:0.0	.	587	Q8IYF1	ELOA2_HUMAN	K	587	ENSP00000331302:N587K	ENSP00000331302:N587K	N	-	3	2	TCEB3B	42813873	0.030000	0.19436	0.002000	0.10522	0.006000	0.05464	-0.082000	0.11304	-0.018000	0.14079	0.421000	0.28195	AAT	TCEB3B	-	pfam_RNA_pol_II_trans_fac_SIII_A		0.517	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	A	NM_016427		44559875	-1	no_errors	ENST00000332567	ensembl	human	known	70_37	missense	SNP	0.678	T
TCF7L2	6934	genome.wustl.edu	37	10	114799868	114799869	+	In_Frame_Ins	INS	-	-	CAC			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr10:114799868_114799869insCAC	ENST00000355995.4	+	5	1042_1043	c.535_536insCAC	c.(535-537)tca>tCACca	p.180_181insP	TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000349937.2_In_Frame_Ins_p.180_181insP|TCF7L2_ENST00000369397.4_In_Frame_Ins_p.157_158insP|TCF7L2_ENST00000545257.1_In_Frame_Ins_p.180_181insP|TCF7L2_ENST00000355717.4_In_Frame_Ins_p.157_158insP|TCF7L2_ENST00000369395.1_In_Frame_Ins_p.157_158insP|TCF7L2_ENST00000536810.1_In_Frame_Ins_p.180_181insP|TCF7L2_ENST00000538897.1_In_Frame_Ins_p.180_181insP|TCF7L2_ENST00000352065.5_In_Frame_Ins_p.157_158insP|TCF7L2_ENST00000534894.1_In_Frame_Ins_p.180_181insP|TCF7L2_ENST00000543371.1_In_Frame_Ins_p.180_181insP			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	180	Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCGGTCCCCATCACCGGCACAC	0.49			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0																																										SO:0001652	inframe_insertion	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.536_538dupCAC	10.37:g.114799869_114799871dupCAC	ENSP00000348274:p.Pro180_Pro180dup	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	In_Frame_Ins	INS	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.181in_frame_insP	ENST00000355995.4	37	c.535_536		10																																																																																			TCF7L2	-	pfam_CTNNB1-bd_N		0.490	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		-	NM_030756		114799869	+1	no_errors	ENST00000355995	ensembl	human	known	70_37	in_frame_ins	INS	0.998:0.999	CAC
TNKS	8658	genome.wustl.edu	37	8	9538266	9538266	+	Silent	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr8:9538266C>T	ENST00000310430.6	+	5	1089	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Silent_p.L355L|TNKS_ENST00000518281.1_Silent_p.L118L	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	355					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AATGGCTTTACTGACTCCTCT	0.299																																																	0													90.0	96.0	94.0					8																	9538266		2203	4299	6502	SO:0001819	synonymous_variant	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1063C>T	8.37:g.9538266C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95272|Q4G0F2	Silent	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.L355	ENST00000310430.6	37	c.1063	CCDS5974.1	8																																																																																			TNKS	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.299	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	C	NM_003747		9538266	+1	no_errors	ENST00000310430	ensembl	human	known	70_37	silent	SNP	1.000	T
TNNI3K	51086	genome.wustl.edu	37	1	75009599	75009599	+	Missense_Mutation	SNP	C	C	A	rs267598715		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:75009599C>A	ENST00000326637.3	+	25	2492	c.2441C>A	c.(2440-2442)tCc>tAc	p.S814Y	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.S928Y|TNNI3K_ENST00000370891.2_Missense_Mutation_p.S915Y|TNNI3K_ENST00000465473.1_3'UTR	NM_015978.2	NP_057062.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GGCTATGTATCCGATCCCATG	0.433																																																	0													143.0	118.0	127.0					1																	75009599		2203	4300	6503	SO:0001583	missense	51086			AF116826	CCDS664.1, CCDS44161.1	1p31.1	2014-09-17				ENSG00000116783			19661	protein-coding gene	gene with protein product		613932				12721663	Standard	NM_015978		Approved	CARK		Q59H18	OTTHUMG00000171318	ENST00000326637.3:c.2441C>A	1.37:g.75009599C>A	ENSP00000322251:p.Ser814Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S915Y	ENST00000326637.3	37	c.2744	CCDS664.1	1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318401	0.40996	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.76839	-1.05;-1.05;-1.03	5.32	2.34	0.29019	.	0.134965	0.50627	D	0.000107	T	0.71937	0.3399	L	0.32530	0.975	0.36891	D	0.889907	D;P	0.65815	0.995;0.693	D;P	0.75484	0.986;0.46	T	0.74383	-0.3683	10	0.72032	D	0.01	.	8.7555	0.34643	0.0:0.6367:0.2848:0.0785	.	814;915	Q59H18;Q59H18-1	TNI3K_HUMAN;.	Y	915;915;814	ENSP00000450895:S915Y;ENSP00000359928:S915Y;ENSP00000322251:S814Y	ENSP00000322251:S814Y	S	+	2	0	RP11-653A5.2;AC093158.1	74782187	1.000000	0.71417	0.960000	0.40013	0.451000	0.32288	3.608000	0.54109	0.298000	0.22638	-0.291000	0.09656	TCC	TNNI3K	-	NULL		0.433	TNNI3K-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3K	HGNC	protein_coding	OTTHUMT00000026432.1	C	NM_015978		75009599	+1	no_errors	ENST00000370891	ensembl	human	known	70_37	missense	SNP	0.974	A
TOR1AIP1	26092	genome.wustl.edu	37	1	179851995	179851995	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:179851995G>A	ENST00000606911.2	+	1	549	c.358G>A	c.(358-360)Gag>Aag	p.E120K	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.E120K|TOR1AIP1_ENST00000435319.4_5'UTR|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.E120K|RP11-533E19.7_ENST00000610272.1_lincRNA			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	120					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CCAGGAAACCGAGGAAATGAA	0.597																																																	0													47.0	56.0	53.0					1																	179851995		2203	4300	6503	SO:0001583	missense	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.358G>A	1.37:g.179851995G>A	ENSP00000476687:p.Glu120Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	pfam_Lamina-ass_polypeptide_CLAP1C	p.E120K	ENST00000606911.2	37	c.358	CCDS1335.1	1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010206	0.19277	.	.	ENSG00000143337	ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319	T;T;T	0.25579	1.79;1.79;1.81	4.96	1.73	0.24493	.	1.378690	0.04789	N	0.431220	T	0.18467	0.0443	L	0.32530	0.975	0.09310	N	1	P;D	0.52996	0.913;0.957	B;B	0.36464	0.121;0.225	T	0.27468	-1.0073	10	0.51188	T	0.08	0.1579	7.32	0.26521	0.3115:0.0:0.6885:0.0	.	120;120	Q5JTV8;E9PKD1	TOIP1_HUMAN;.	K	120	ENSP00000435365:E120K;ENSP00000271583:E120K;ENSP00000393292:E120K	ENSP00000271583:E120K	E	+	1	0	TOR1AIP1	178118618	0.817000	0.29147	0.006000	0.13384	0.010000	0.07245	2.324000	0.43831	0.137000	0.18759	0.655000	0.94253	GAG	TOR1AIP1	-	NULL		0.597	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOR1AIP1	HGNC	protein_coding	OTTHUMT00000100313.4	G	NM_015602		179851995	+1	no_errors	ENST00000435319	ensembl	human	known	70_37	missense	SNP	0.004	A
UCK1	83549	genome.wustl.edu	37	9	134404408	134404408	+	Nonsense_Mutation	SNP	G	G	A	rs576279404		TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr9:134404408G>A	ENST00000372215.4	-	5	619	c.526C>T	c.(526-528)Cga>Tga	p.R176*	UCK1_ENST00000372210.3_Nonsense_Mutation_p.R167*|UCK1_ENST00000372211.3_Nonsense_Mutation_p.R181*|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000459858.1_5'UTR	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	176					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		TCCCTCCCTCGGCGCACGTCC	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16086	0.0		0.0	False		,,,				2504	0.0				Melanoma(42;523 1129 28385 43975 48113)												0													71.0	52.0	58.0					9																	134404408		2203	4300	6503	SO:0001587	stop_gained	83549			AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.526C>T	9.37:g.134404408G>A	ENSP00000361289:p.Arg176*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Nonsense_Mutation	SNP	pfam_PRK/URK,prints_Uridine_kinase	p.R181*	ENST00000372215.4	37	c.541	CCDS6944.1	9	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701546	0.68501	.	.	ENSG00000130717	ENST00000372215;ENST00000372211;ENST00000372210	.	.	.	4.72	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7327	9.4384	0.38653	0.1803:0.0:0.8197:0.0	.	.	.	.	X	176;181;167	.	ENSP00000361284:R167X	R	-	1	2	UCK1	133394229	1.000000	0.71417	0.006000	0.13384	0.321000	0.28281	4.807000	0.62576	0.380000	0.24823	-0.140000	0.14226	CGA	UCK1	-	pfam_PRK/URK,prints_Uridine_kinase		0.682	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK1	HGNC	protein_coding	OTTHUMT00000054726.1	G	NM_031432		134404408	-1	no_errors	ENST00000372211	ensembl	human	known	70_37	nonsense	SNP	0.507	A
VN1R1	57191	genome.wustl.edu	37	19	57967496	57967496	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:57967496C>G	ENST00000321039.3	-	1	358	c.359G>C	c.(358-360)gGa>gCa	p.G120A	AC004076.9_ENST00000415705.3_5'UTR|AC004076.9_ENST00000596831.1_Missense_Mutation_p.G85A	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	120					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AAACTTACATCCAGTGTCATT	0.448																																																	0													74.0	70.0	72.0					19																	57967496		2203	4300	6503	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.359G>C	19.37:g.57967496C>G	ENSP00000322339:p.Gly120Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.G120A	ENST00000321039.3	37	c.359	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297007	0.40594	.	.	ENSG00000178201	ENST00000321039	T	0.08634	3.07	4.18	-0.69	0.11309	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15435	0.0372	M	0.80422	2.495	0.09310	N	1	P	0.49358	0.923	P	0.52309	0.695	T	0.15838	-1.0423	9	0.59425	D	0.04	.	0.8571	0.01185	0.166:0.3926:0.1615:0.2799	.	120	Q9GZP7	VN1R1_HUMAN	A	120	ENSP00000322339:G120A	ENSP00000322339:G120A	G	-	2	0	VN1R1	62659308	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	0.155000	0.16362	-0.068000	0.12953	-0.155000	0.13514	GGA	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1		0.448	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	C	NM_020633		57967496	-1	no_errors	ENST00000321039	ensembl	human	known	70_37	missense	SNP	0.080	G
ZNF496	84838	genome.wustl.edu	37	1	247492545	247492545	+	Silent	SNP	C	C	T			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr1:247492545C>T	ENST00000294753.4	-	3	800	c.336G>A	c.(334-336)caG>caA	p.Q112Q	ZNF496_ENST00000366498.2_Silent_p.Q112Q	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	112	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGGCCACAGCCTGCTCTCCGC	0.657																																																	0													31.0	36.0	35.0					1																	247492545		2203	4300	6503	SO:0001819	synonymous_variant	84838			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.336G>A	1.37:g.247492545C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBS2	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q112	ENST00000294753.4	37	c.336	CCDS1631.1	1																																																																																			ZNF496	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.657	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	C	NM_032752		247492545	-1	no_errors	ENST00000366498	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF829	374899	genome.wustl.edu	37	19	37383008	37383008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7X3-01A-11D-A351-09	TCGA-C5-A7X3-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	186538bc-b624-4940-880e-fa08f4055054	fb738c13-efff-4d60-a1a6-fe124e35b680	g.chr19:37383008G>A	ENST00000391711.3	-	6	1049	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Nonsense_Mutation_p.Q310*|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	229					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(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGATGTTGAGAAAAATAT	0.383																																																	0													63.0	66.0	65.0					19																	37383008		2198	4297	6495	SO:0001587	stop_gained	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.685C>T	19.37:g.37383008G>A	ENSP00000429266:p.Gln229*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KNS7|Q6ZNN0|Q7Z657	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q310*	ENST00000391711.3	37	c.928	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762764	0.89932	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2277	0.10589	0.1207:0.0:0.6505:0.2289	.	.	.	.	X	229	.	ENSP00000429266:Q229X	Q	-	1	0	ZNF829	42074848	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.274000	0.08537	2.140000	0.66376	0.650000	0.86243	CAA	ZNF829	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	G	NM_001037232		37383008	-1	no_errors	ENST00000520965	ensembl	human	known	70_37	nonsense	SNP	0.029	A
