#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
ACTN4	81	genome.wustl.edu	37	19	39219710	39219710	+	Silent	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:39219710C>T	ENST00000252699.2	+	20	2569	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	ACTN4_ENST00000424234.2_Silent_p.F441F|ACTN4_ENST00000390009.3_Silent_p.F612F|ACTN4_ENST00000497637.1_3'UTR	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	831	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCAAGCCTTCATCGACTTCA	0.607																																					Colon(168;199 1940 10254 46213 46384)												0													128.0	102.0	111.0					19																	39219710		2203	4300	6503	SO:0001819	synonymous_variant	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2493C>T	19.37:g.39219710C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.F831	ENST00000252699.2	37	c.2493	CCDS12518.1	19																																																																																			ACTN4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.607	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	C			39219710	+1	no_errors	ENST00000252699	ensembl	human	known	70_37	silent	SNP	1.000	T
AFF2	2334	genome.wustl.edu	37	X	147733596	147733596	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chrX:147733596G>A	ENST00000370460.2	+	2	603	c.124G>A	c.(124-126)Gat>Aat	p.D42N	AFF2_ENST00000370457.5_Missense_Mutation_p.D42N|AFF2_ENST00000342251.3_Missense_Mutation_p.D42N|AFF2_ENST00000370458.1_Missense_Mutation_p.D42N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	42					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGAAGACGATCTCTTTTC	0.378																																																	0													203.0	192.0	195.0					X																	147733596		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.124G>A	X.37:g.147733596G>A	ENSP00000359489:p.Asp42Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.D42N	ENST00000370460.2	37	c.124	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330103	0.81690	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.62	4.75	0.60458	.	0.065426	0.56097	D	0.000029	T	0.75635	0.3876	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.954;0.954;0.954;0.917;0.95;0.999	T	0.73953	-0.3820	10	0.35671	T	0.21	.	15.6398	0.76989	0.0:0.1339:0.8661:0.0	.	42;42;42;42;42;42	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	N	42	ENSP00000359489:D42N;ENSP00000359486:D42N;ENSP00000345459:D42N;ENSP00000359487:D42N	ENSP00000345459:D42N	D	+	1	0	AFF2	147541288	1.000000	0.71417	0.784000	0.31847	0.881000	0.50899	9.188000	0.94921	1.114000	0.41781	0.594000	0.82650	GAT	AFF2	-	pfam_TF_AF4/FMR2		0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	G	NM_002025		147733596	+1	no_errors	ENST00000370460	ensembl	human	known	70_37	missense	SNP	0.998	A
AKR1D1	6718	genome.wustl.edu	37	7	137761304	137761304	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr7:137761304G>A	ENST00000242375.3	+	1	82	c.40G>A	c.(40-42)Gat>Aat	p.D14N	AKR1D1_ENST00000432161.1_Missense_Mutation_p.D14N|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.D14N	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	14				D -> V (in Ref. 3; BAF82114). {ECO:0000305}.	androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	ACCTCTAAGTGATGGAAACAG	0.428																																																	0													217.0	171.0	186.0					7																	137761304		2203	4300	6503	SO:0001583	missense	6718			Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.40G>A	7.37:g.137761304G>A	ENSP00000242375:p.Asp14Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.D14N	ENST00000242375.3	37	c.40	CCDS5846.1	7	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953783	0.73902	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375;ENST00000438242	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.92	4.92	0.64577	NADP-dependent oxidoreductase domain (2);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	N	0.10664	0.02	0.49798	D	0.999827	P;B;P	0.45078	0.717;0.171;0.85	B;B;B	0.38428	0.263;0.063;0.273	T	0.06215	-1.0839	10	0.23302	T	0.38	.	13.8114	0.63266	0.0:0.0:1.0:0.0	.	14;14;14	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	N	14	ENSP00000389197:D14N;ENSP00000402374:D14N;ENSP00000242375:D14N;ENSP00000397042:D14N	ENSP00000242375:D14N	D	+	1	0	AKR1D1	137411844	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	3.205000	0.51090	2.721000	0.93114	0.650000	0.86243	GAT	AKR1D1	-	superfamily_NADP_OxRdtase_dom		0.428	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	G	NM_005989		137761304	+1	no_errors	ENST00000242375	ensembl	human	known	70_37	missense	SNP	0.993	A
AKT1	207	genome.wustl.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	102	Substitution - Missense(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)											130.0	93.0	106.0					14																	105246551		2203	4300	6503	SO:0001583	missense	207			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.E17K	ENST00000554581.1	37	c.49	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG	AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	C	NM_005163		105246551	-1	no_errors	ENST00000349310	ensembl	human	known	70_37	missense	SNP	1.000	T
AP2A1	160	genome.wustl.edu	37	19	50308784	50308784	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:50308784G>A	ENST00000359032.5	+	20	2485	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K	AP2A1_ENST00000354293.5_Missense_Mutation_p.E807K	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	829					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCTCAATATCGAGTGCCTGCG	0.716																																																	0													9.0	12.0	11.0					19																	50308784		2040	4154	6194	SO:0001583	missense	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2485G>A	19.37:g.50308784G>A	ENSP00000351926:p.Glu829Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.E807K	ENST00000359032.5	37	c.2419	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	g	37	6.619404	0.97709	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.48201	0.82;0.82	5.94	5.94	0.96194	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.047620	0.85682	D	0.000000	T	0.70090	0.3184	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	P;D	0.64410	0.686;0.925	T	0.66264	-0.5967	10	0.27082	T	0.32	-14.7922	19.1419	0.93449	0.0:0.0:1.0:0.0	.	807;829	O95782-2;O95782	.;AP2A1_HUMAN	K	807;829	ENSP00000346246:E807K;ENSP00000351926:E829K	ENSP00000346246:E807K	E	+	1	0	AP2A1	55000596	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.522000	0.98032	2.821000	0.97095	0.651000	0.88453	GAG	AP2A1	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu		0.716	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1	G			50308784	+1	no_errors	ENST00000354293	ensembl	human	known	70_37	missense	SNP	1.000	A
AP3B1	8546	genome.wustl.edu	37	5	77338708	77338708	+	Intron	SNP	G	G	C			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr5:77338708G>C	ENST00000255194.6	-	23	2753				AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Intron	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTTCTACAGAGAAGTGCTTGA	0.418									Hermansky-Pudlak syndrome																																								0																																										SO:0001627	intron_variant	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2578-3610C>G	5.37:g.77338708G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E5RJ68|O00580|Q7Z393|Q9HD66	RNA	SNP	-	NULL	ENST00000255194.6	37	NULL	CCDS4041.1	5																																																																																			AP3B1	-	-		0.418	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	G			77338708	-1	no_errors	ENST00000523204	ensembl	human	known	70_37	rna	SNP	1.000	C
AQP5	362	genome.wustl.edu	37	12	50356026	50356026	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:50356026C>T	ENST00000293599.6	+	1	374	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	76					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						CACCCTGGCCCTCTTGGTGGG	0.692																																																	0													41.0	40.0	41.0					12																	50356026		2203	4299	6502	SO:0001583	missense	362			U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.226C>T	12.37:g.50356026C>T	ENSP00000293599:p.Leu76Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FGW8	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP	p.L76F	ENST00000293599.6	37	c.226	CCDS8793.1	12	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019427	0.08006	.	.	ENSG00000161798	ENST00000293599	D	0.93712	-3.27	3.49	2.59	0.31030	Aquaporin-like (2);	0.251703	0.27080	N	0.021038	T	0.79592	0.4472	N	0.04116	-0.275	0.30632	N	0.757433	B	0.23377	0.084	B	0.23275	0.045	T	0.69942	-0.5008	10	0.09590	T	0.72	-11.8303	5.7605	0.18196	0.0:0.7528:0.0:0.2472	.	76	P55064	AQP5_HUMAN	F	76	ENSP00000293599:L76F	ENSP00000293599:L76F	L	+	1	0	AQP5	48642293	0.632000	0.27172	0.934000	0.37439	0.969000	0.65631	0.544000	0.23253	0.821000	0.34540	0.462000	0.41574	CTC	AQP5	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.692	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP5	HGNC	protein_coding	OTTHUMT00000405542.2	C	NM_001651		50356026	+1	no_errors	ENST00000293599	ensembl	human	known	70_37	missense	SNP	0.870	T
ARL8B	55207	genome.wustl.edu	37	3	5220573	5220573	+	3'UTR	SNP	C	C	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:5220573C>G	ENST00000256496.3	+	0	982				AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_3'UTR|ARL8B_ENST00000419534.2_3'UTR	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B						cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		CATAAAGAATCAGCTAGAGTT	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	55207			AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25564	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10C"""	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.*175C>G	3.37:g.5220573C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI85	RNA	SNP	-	NULL	ENST00000256496.3	37	NULL	CCDS2566.1	3																																																																																			ARL8B	-	-		0.378	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL8B	HGNC	protein_coding	OTTHUMT00000206910.2	C	NM_018184		5220573	+1	no_errors	ENST00000468010	ensembl	human	known	70_37	rna	SNP	0.992	G
ASB2	51676	genome.wustl.edu	37	14	94420704	94420704	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr14:94420704G>T	ENST00000315988.4	-	2	781	c.293C>A	c.(292-294)gCa>gAa	p.A98E	ASB2_ENST00000555019.1_Missense_Mutation_p.A146E|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	98					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCATAGTATGCGGCCTCGTG	0.607																																																	0													76.0	61.0	66.0					14																	94420704		2203	4300	6503	SO:0001583	missense	51676			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.293C>A	14.37:g.94420704G>T	ENSP00000320675:p.Ala98Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.A98E	ENST00000315988.4	37	c.293	CCDS9915.1	14	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237020	0.79800	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062;ENST00000555287;ENST00000557613	T;T;T;T;T;T	0.75260	-0.37;-0.37;-0.37;-0.92;-0.37;-0.37	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.162995	0.53938	D	0.000054	D	0.91212	0.7231	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.93594	0.6924	10	0.87932	D	0	-0.8984	19.48	0.95005	0.0:0.0:1.0:0.0	.	114;146;98	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	E	146;114;98;44;44;44;64;111	ENSP00000451575:A146E;ENSP00000320675:A98E;ENSP00000450940:A44E;ENSP00000451694:A44E;ENSP00000451654:A64E;ENSP00000451355:A111E	ENSP00000320675:A98E	A	-	2	0	ASB2	93490457	1.000000	0.71417	0.988000	0.46212	0.258000	0.26162	9.504000	0.97986	2.606000	0.88127	0.655000	0.94253	GCA	ASB2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.607	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	G			94420704	-1	no_errors	ENST00000315988	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP7B	540	genome.wustl.edu	37	13	52511638	52511638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr13:52511638C>A	ENST00000242839.4	-	18	4033	c.3877G>T	c.(3877-3879)Gag>Tag	p.E1293*	ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E1182*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E1228*|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E1215*|ATP7B_ENST00000417240.2_Nonsense_Mutation_p.E504*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E863*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E1086*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1293					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCGGCTGCCTCGATGGCCACA	0.642									Wilson disease																																								0													54.0	63.0	60.0					13																	52511638		2129	4232	6361	SO:0001587	stop_gained	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3877G>T	13.37:g.52511638C>A	ENSP00000242839:p.Glu1293*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Nonsense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.E1293*	ENST00000242839.4	37	c.3877	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	37	6.609936	0.97701	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-32.7939	18.2449	0.89982	0.0:1.0:0.0:0.0	.	.	.	.	X	1293;1182;1086;504;1215;863;1228	.	ENSP00000242839:E1293X	E	-	1	0	ATP7B	51409639	1.000000	0.71417	0.999000	0.59377	0.306000	0.27790	7.562000	0.82300	2.606000	0.88127	0.591000	0.81541	GAG	ATP7B	-	pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr		0.642	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	C	NM_000053		52511638	-1	no_errors	ENST00000242839	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ATP8B4	79895	genome.wustl.edu	37	15	50264898	50264898	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr15:50264898C>T	ENST00000284509.6	-	13	1265	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R375Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	375						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CGTGGTCGTTCGAGCCACTGC	0.428																																																	0													80.0	72.0	75.0					15																	50264898		2196	4295	6491	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1124G>A	15.37:g.50264898C>T	ENSP00000284509:p.Arg375Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R375Q	ENST00000284509.6	37	c.1124	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978645	0.74360	.	.	ENSG00000104043	ENST00000284509	D	0.91011	-2.77	4.88	3.96	0.45880	.	0.069919	0.64402	D	0.000020	D	0.94935	0.8362	M	0.88842	2.985	0.53005	D	0.999963	D	0.76494	0.999	D	0.63703	0.917	D	0.94894	0.8050	10	0.87932	D	0	.	10.9674	0.47421	0.0:0.9072:0.0:0.0928	.	375	Q8TF62	AT8B4_HUMAN	Q	375	ENSP00000284509:R375Q	ENSP00000284509:R375Q	R	-	2	0	ATP8B4	48052190	1.000000	0.71417	0.966000	0.40874	0.424000	0.31475	7.687000	0.84139	1.044000	0.40200	0.650000	0.86243	CGA	ATP8B4	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.428	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	C	NM_024837		50264898	-1	no_errors	ENST00000284509	ensembl	human	known	70_37	missense	SNP	1.000	T
ATXN2	6311	genome.wustl.edu	37	12	111908476	111908476	+	Silent	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:111908476C>T	ENST00000377617.3	-	19	3230	c.3069G>A	c.(3067-3069)gcG>gcA	p.A1023A	ATXN2_ENST00000535949.1_Silent_p.A734A|ATXN2_ENST00000389153.4_Silent_p.A760A|ATXN2_ENST00000608853.1_Silent_p.A863A|ATXN2_ENST00000542287.2_Silent_p.A758A|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1023	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TCGGTGGGCCCGCTGCTGACG	0.537																																																	0													129.0	119.0	122.0					12																	111908476		2203	4300	6503	SO:0001819	synonymous_variant	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3069G>A	12.37:g.111908476C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.A1023	ENST00000377617.3	37	c.3069	CCDS31902.1	12																																																																																			ATXN2	-	NULL		0.537	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	C	NM_002973		111908476	-1	no_errors	ENST00000377617	ensembl	human	known	70_37	silent	SNP	0.964	T
BTK	695	genome.wustl.edu	37	X	100613645	100613645	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chrX:100613645C>A	ENST00000308731.7	-	11	1097	c.934G>T	c.(934-936)Gct>Tct	p.A312S	BTK_ENST00000372880.1_Missense_Mutation_p.A312S	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	312	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATTTGCCAGCTTTGCTGGAG	0.488									Agammaglobulinemia, X-linked																																								0													238.0	208.0	218.0					X																	100613645		2203	4300	6503	SO:0001583	missense	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.934G>T	X.37:g.100613645C>A	ENSP00000308176:p.Ala312Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAW1|Q32ML5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.A312S	ENST00000308731.7	37	c.934	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656081	0.47467	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.88509	-2.39;-2.39	5.88	5.88	0.94601	SH2 motif (5);	0.161042	0.56097	D	0.000031	D	0.87513	0.6196	L	0.39467	1.215	0.41524	D	0.988411	P;B;P	0.39157	0.662;0.318;0.565	P;B;B	0.47251	0.542;0.41;0.341	D	0.87084	0.2168	10	0.49607	T	0.09	.	10.2929	0.43608	0.0:0.866:0.0:0.134	.	312;312;312	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	S	312	ENSP00000361971:A312S;ENSP00000308176:A312S	ENSP00000308176:A312S	A	-	1	0	BTK	100500301	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.982000	0.49337	2.471000	0.83476	0.600000	0.82982	GCT	BTK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.488	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2	C	NM_000061		100613645	-1	no_errors	ENST00000308731	ensembl	human	known	70_37	missense	SNP	1.000	A
BVES	11149	genome.wustl.edu	37	6	105563703	105563703	+	Splice_Site	SNP	C	C	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:105563703C>A	ENST00000314641.5	-	7	1033		c.e7-1		BVES_ENST00000336775.5_Splice_Site|BVES_ENST00000446408.2_Splice_Site	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance						epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTTTGGCTTTCTACAAAGCAA	0.413																																																	0													113.0	97.0	102.0					6																	105563703		2203	4300	6503	SO:0001630	splice_region_variant	11149			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.817-1G>T	6.37:g.105563703C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Splice_Site	SNP	-	e6-1	ENST00000314641.5	37	c.817-1	CCDS5051.1	6	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665301	0.88251	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9906	0.97362	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BVES	105670396	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.595000	0.82710	2.822000	0.97130	0.563000	0.77884	.	BVES	-	-		0.413	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BVES	HGNC	protein_coding	OTTHUMT00000406075.1	C	NM_147147	Intron	105563703	-1	no_errors	ENST00000314641	ensembl	human	known	70_37	splice_site	SNP	1.000	A
MFRP	83552	genome.wustl.edu	37	11	119209986	119209986	+	3'UTR	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:119209986C>T	ENST00000530681.1	-	0	3567				C1QTNF5_ENST00000528368.1_3'UTR|RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000525657.1_5'UTR|C1QTNF5_ENST00000445041.2_3'UTR|MFRP_ENST00000555262.1_3'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein						embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		ACCTGGTTGTCAGCCTCACAC	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	114902			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.*1683G>A	11.37:g.119209986C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	RNA	SNP	-	NULL	ENST00000530681.1	37	NULL	CCDS8421.1	11																																																																																			C1QTNF5	-	-		0.567	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C1QTNF5	HGNC	protein_coding	OTTHUMT00000415179.1	C	NM_031433		119209986	-1	no_errors	ENST00000525657	ensembl	human	known	70_37	rna	SNP	0.005	T
CCDC114	93233	genome.wustl.edu	37	19	48814881	48814881	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:48814881G>T	ENST00000315396.7	-	5	1097	c.415C>A	c.(415-417)Ctg>Atg	p.L139M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	139					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCCTCCCGCAGGGCCGCATTC	0.587																																																	0													83.0	70.0	74.0					19																	48814881		692	1591	2283	SO:0001583	missense	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.415C>A	19.37:g.48814881G>T	ENSP00000318429:p.Leu139Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.L139M	ENST00000315396.7	37	c.415	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863869	0.32884	.	.	ENSG00000105479	ENST00000315396	D	0.91792	-2.91	4.41	3.36	0.38483	.	.	.	.	.	D	0.94935	0.8362	M	0.79258	2.445	0.29250	N	0.87203	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88984	0.3410	9	0.48119	T	0.1	-12.9341	7.9636	0.30085	0.1208:0.0:0.8792:0.0	.	139;139	Q96M63;Q96M63-5	CC114_HUMAN;.	M	139	ENSP00000318429:L139M	ENSP00000318429:L139M	L	-	1	2	CCDC114	53506693	0.986000	0.35501	0.865000	0.33974	0.170000	0.22686	3.334000	0.52097	0.939000	0.37446	0.655000	0.94253	CTG	CCDC114	-	NULL		0.587	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	G	NM_144577		48814881	-1	no_errors	ENST00000315396	ensembl	human	known	70_37	missense	SNP	0.893	T
CCDC153	283152	genome.wustl.edu	37	11	119061433	119061433	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:119061433C>T	ENST00000503566.2	-	5	465	c.466G>A	c.(466-468)Gag>Aag	p.E156K	CCDC153_ENST00000415318.1_Missense_Mutation_p.E156K			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	156										lung(3)|stomach(1)	4						AAGATTTCCTCATACTTCGCC	0.607																																																	0													78.0	74.0	75.0					11																	119061433		2200	4295	6495	SO:0001583	missense	283152				CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.466G>A	11.37:g.119061433C>T	ENSP00000423567:p.Glu156Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_t-SNARE	p.E156K	ENST00000503566.2	37	c.466	CCDS44753.1	11	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883034	0.51908	.	.	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.30981	1.51;1.51	4.52	2.61	0.31194	.	0.159432	0.42821	N	0.000651	T	0.30230	0.0758	M	0.78637	2.42	0.37908	D	0.931263	B	0.30709	0.291	B	0.26693	0.072	T	0.23583	-1.0184	10	0.72032	D	0.01	-5.3104	6.1067	0.20077	0.0:0.7059:0.1912:0.1029	.	156	Q494R4	CC153_HUMAN	K	156	ENSP00000423567:E156K;ENSP00000445431:E156K	ENSP00000445431:E156K	E	-	1	0	CCDC153	118566643	0.956000	0.32656	0.903000	0.35520	0.907000	0.53573	1.932000	0.40143	0.635000	0.30488	0.655000	0.94253	GAG	CCDC153	-	superfamily_t-SNARE		0.607	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC153	HGNC	protein_coding	OTTHUMT00000388331.2	C	NM_001033658		119061433	-1	no_errors	ENST00000415318	ensembl	human	known	70_37	missense	SNP	0.952	T
CCDC40	55036	genome.wustl.edu	37	17	78024013	78024013	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr17:78024013G>C	ENST00000397545.4	+	7	1117	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	CCDC40_ENST00000269318.5_Missense_Mutation_p.E364Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.E364Q|CCDC40_ENST00000374876.4_Missense_Mutation_p.E364Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	364					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCAGAAGGAGGAGGAGCTGCA	0.637																																																	0													13.0	17.0	16.0					17																	78024013		2127	4260	6387	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1090G>C	17.37:g.78024013G>C	ENSP00000380679:p.Glu364Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.E364Q	ENST00000397545.4	37	c.1090	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	G	10.38	1.332950	0.24167	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.50813	0.73;1.99;0.75;0.77	4.85	2.82	0.32997	.	.	.	.	.	T	0.44329	0.1288	L	0.49126	1.545	0.31000	N	0.72046	P;B;B	0.45126	0.851;0.177;0.27	B;B;B	0.43301	0.415;0.053;0.114	T	0.50372	-0.8836	9	0.62326	D	0.03	-14.8516	10.2141	0.43158	0.0748:0.1371:0.7882:0.0	.	364;364;147	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	Q	364	ENSP00000364011:E364Q;ENSP00000269318:E364Q;ENSP00000364010:E364Q;ENSP00000380679:E364Q	ENSP00000269318:E364Q	E	+	1	0	CCDC40	75638608	1.000000	0.71417	0.980000	0.43619	0.096000	0.18686	4.010000	0.57117	0.542000	0.28846	0.655000	0.94253	GAG	CCDC40	-	NULL		0.637	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	G	XM_371082		78024013	+1	no_errors	ENST00000397545	ensembl	human	known	70_37	missense	SNP	1.000	C
CEACAM1	634	genome.wustl.edu	37	19	43023356	43023356	+	Silent	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:43023356G>A	ENST00000161559.6	-	5	1124	c.990C>T	c.(988-990)atC>atT	p.I330I	CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000308072.4_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000403444.3_Silent_p.I330I|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Intron|LIPE-AS1_ENST00000594688.1_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	330	Ig-like C2-type 3.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGCTGGCTTTGATTTGGGGCT	0.498																																																	0													205.0	183.0	191.0					19																	43023356		2203	4300	6503	SO:0001819	synonymous_variant	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.990C>T	19.37:g.43023356G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I330	ENST00000161559.6	37	c.990	CCDS12609.1	19																																																																																			CEACAM1	-	pfscan_Ig-like		0.498	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	HGNC	protein_coding	OTTHUMT00000321190.2	G	NM_001712		43023356	-1	no_errors	ENST00000161559	ensembl	human	known	70_37	silent	SNP	0.013	A
CNTLN	54875	genome.wustl.edu	37	9	17487056	17487056	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr9:17487056G>A	ENST00000380647.3	+	25	4195	c.4111G>A	c.(4111-4113)Gaa>Aaa	p.E1371K	CNTLN_ENST00000425824.1_Missense_Mutation_p.E1371K|CNTLN_ENST00000262360.5_Missense_Mutation_p.E1371K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1371					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAAACTTCTTGAAGGACAGGT	0.294																																																	0													82.0	79.0	80.0					9																	17487056		1808	4062	5870	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.4111G>A	9.37:g.17487056G>A	ENSP00000370021:p.Glu1371Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1371K	ENST00000380647.3	37	c.4111	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171049	0.57584	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18810	2.19;2.19;2.45	6.11	4.27	0.50696	.	.	.	.	.	T	0.23806	0.0576	M	0.66939	2.045	0.39797	D	0.972515	P;P;P	0.41524	0.753;0.753;0.753	B;B;B	0.37091	0.241;0.241;0.241	T	0.07539	-1.0767	9	0.72032	D	0.01	.	12.4316	0.55577	0.0638:0.1189:0.8173:0.0	.	1371;1371;1371	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	K	1371	ENSP00000370021:E1371K;ENSP00000392798:E1371K;ENSP00000262360:E1371K	ENSP00000262360:E1371K	E	+	1	0	CNTLN	17477056	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.195000	0.51013	0.896000	0.36366	0.655000	0.94253	GAA	CNTLN	-	NULL		0.294	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	G	NM_017738		17487056	+1	no_errors	ENST00000380647	ensembl	human	known	70_37	missense	SNP	0.999	A
CNTN6	27255	genome.wustl.edu	37	3	1415661	1415661	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:1415661C>T	ENST00000446702.2	+	16	2626	c.1999C>T	c.(1999-2001)Cct>Tct	p.P667S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P667S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P595S			Q9UQ52	CNTN6_HUMAN	contactin 6	667	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGTTTGAGTCCTTGGGTGGA	0.408																																																	0													134.0	125.0	128.0					3																	1415661		2203	4300	6503	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1999C>T	3.37:g.1415661C>T	ENSP00000407822:p.Pro667Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P667S	ENST00000446702.2	37	c.1999	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889122	0.72524	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.68479	-0.33;-0.33;-0.33	4.84	3.96	0.45880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000037	T	0.75421	0.3847	M	0.93241	3.395	0.54753	D	0.999988	B	0.12630	0.006	B	0.23716	0.048	T	0.76908	-0.2785	10	0.87932	D	0	.	13.1921	0.59717	0.0:0.922:0.0:0.078	.	667	Q9UQ52	CNTN6_HUMAN	S	667;595;667	ENSP00000407822:P667S;ENSP00000442791:P595S;ENSP00000341882:P667S	ENSP00000341882:P667S	P	+	1	0	CNTN6	1390661	0.931000	0.31567	0.998000	0.56505	0.984000	0.73092	1.732000	0.38146	1.147000	0.42369	0.655000	0.94253	CCT	CNTN6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.408	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	C	NM_014461		1415661	+1	no_errors	ENST00000350110	ensembl	human	known	70_37	missense	SNP	1.000	T
COL19A1	1310	genome.wustl.edu	37	6	70916910	70916910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:70916910G>T	ENST00000322773.4	+	51	3463	c.3361G>T	c.(3361-3363)Gga>Tga	p.G1121*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.G743*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1121					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGACCCAGTGGAAGATGTAA	0.512																																																	0													147.0	171.0	163.0					6																	70916910		2203	4300	6503	SO:0001587	stop_gained	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3361G>T	6.37:g.70916910G>T	ENSP00000316030:p.Gly1121*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G1121*	ENST00000322773.4	37	c.3361	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	41	9.062673	0.99053	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4528	0.90710	0.0:0.0:1.0:0.0	.	.	.	.	X	1121;743	.	ENSP00000316030:G1121X	G	+	1	0	COL19A1	70973631	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.768000	0.74980	2.793000	0.96121	0.563000	0.77884	GGA	COL19A1	-	NULL		0.512	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G			70916910	+1	no_errors	ENST00000322773	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DDX21	9188	genome.wustl.edu	37	10	70719876	70719876	+	Silent	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:70719876G>A	ENST00000354185.4	+	2	500	c.402G>A	c.(400-402)aaG>aaA	p.K134K		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	134					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAAGATGAAGAAAGAAAAGG	0.408																																																	0													35.0	39.0	38.0					10																	70719876		2202	4300	6502	SO:0001819	synonymous_variant	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.402G>A	10.37:g.70719876G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDL0|Q13436|Q5VX41|Q68D35	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K134	ENST00000354185.4	37	c.402	CCDS31211.1	10																																																																																			DDX21	-	NULL		0.408	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	G	NM_004728		70719876	+1	no_errors	ENST00000354185	ensembl	human	known	70_37	silent	SNP	1.000	A
CYP26A1	1592	genome.wustl.edu	37	10	94834932	94834932	+	Silent	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:94834932C>T	ENST00000224356.4	+	4	777	c.732C>T	c.(730-732)caC>caT	p.H244H	CYP26A1_ENST00000394139.1_Silent_p.H175H|CYP26A1_ENST00000371531.1_Silent_p.H175H	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	244					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	ACCTCATTCACGCGCGCATCG	0.687																																																	0													29.0	31.0	30.0					10																	94834932		2202	4297	6499	SO:0001819	synonymous_variant	1592			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.732C>T	10.37:g.94834932C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNI4|Q5VXH9|Q5VXI0	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.H244	ENST00000224356.4	37	c.732	CCDS7426.1	10																																																																																			CYP26A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.687	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP26A1	HGNC	protein_coding	OTTHUMT00000049408.3	C			94834932	+1	no_errors	ENST00000224356	ensembl	human	known	70_37	silent	SNP	1.000	T
DNAH1	25981	genome.wustl.edu	37	3	52384120	52384120	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:52384120T>C	ENST00000420323.2	+	15	2903	c.2642T>C	c.(2641-2643)cTg>cCg	p.L881P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	881	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGTGGGCCTGGAGGTGAGG	0.652																																																	0													23.0	28.0	26.0					3																	52384120		2099	4221	6320	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2642T>C	3.37:g.52384120T>C	ENSP00000401514:p.Leu881Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.L881P	ENST00000420323.2	37	c.2642	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757374	0.49468	.	.	ENSG00000114841	ENST00000420323	T	0.28666	1.6	5.34	5.34	0.76211	.	0.202660	0.24599	N	0.037148	T	0.51635	0.1686	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.71674	0.978;0.998	P;D	0.70016	0.873;0.967	T	0.54807	-0.8238	10	0.72032	D	0.01	.	10.3459	0.43906	0.1839:0.0:0.0:0.8161	.	881;881	C9JXH6;Q9P2D7-3	.;.	P	881	ENSP00000401514:L881P	ENSP00000401514:L881P	L	+	2	0	DNAH1	52359160	1.000000	0.71417	0.958000	0.39756	0.819000	0.46315	4.337000	0.59310	2.019000	0.59389	0.533000	0.62120	CTG	DNAH1	-	NULL		0.652	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	T	NM_015512		52384120	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	0.919	C
DNAH1	25981	genome.wustl.edu	37	3	52391686	52391686	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:52391686G>T	ENST00000420323.2	+	23	4176	c.3915G>T	c.(3913-3915)aaG>aaT	p.K1305N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1305	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGCAACAAGATTCTGGACC	0.617																																																	0													29.0	34.0	32.0					3																	52391686		2051	4196	6247	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3915G>T	3.37:g.52391686G>T	ENSP00000401514:p.Lys1305Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.K1305N	ENST00000420323.2	37	c.3915	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670823	0.67814	.	.	ENSG00000114841	ENST00000420323	T	0.61392	0.11	5.28	4.28	0.50868	.	0.621363	0.15005	N	0.285865	T	0.46073	0.1374	L	0.38838	1.175	0.40554	D	0.981143	B	0.31227	0.314	B	0.38921	0.285	T	0.46775	-0.9167	10	0.29301	T	0.29	.	3.3983	0.07313	0.3757:0.0:0.6243:0.0	.	1305	C9JXH6	.	N	1305	ENSP00000401514:K1305N	ENSP00000401514:K1305N	K	+	3	2	DNAH1	52366726	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	0.982000	0.29539	2.474000	0.83562	0.561000	0.74099	AAG	DNAH1	-	pfam_Dynein_heavy_dom-2		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52391686	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH6	1768	genome.wustl.edu	37	2	84756217	84756217	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:84756217G>A	ENST00000237449.6	+	3	597	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	DNAH6_ENST00000468661.1_Intron|DNAH6_ENST00000398278.2_Missense_Mutation_p.E197K|DNAH6_ENST00000389394.3_Missense_Mutation_p.E197K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	197	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACGTGAAAATGAACATCTTGG	0.328																																																	0													95.0	75.0	81.0					2																	84756217		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.589G>A	2.37:g.84756217G>A	ENSP00000237449:p.Glu197Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E197K	ENST00000237449.6	37	c.589	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708534	0.30322	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.22945	1.93;2.06;1.93	4.93	3.79	0.43588	.	.	.	.	.	T	0.08358	0.0208	N	0.03608	-0.345	0.37785	D	0.927163	B	0.06786	0.001	B	0.04013	0.001	T	0.27262	-1.0079	9	0.07990	T	0.79	.	4.3642	0.11216	0.3198:0.0:0.6802:0.0	.	197	Q9C0G6	DYH6_HUMAN	K	197	ENSP00000374045:E197K;ENSP00000381326:E197K;ENSP00000237449:E197K	ENSP00000237449:E197K	E	+	1	0	DNAH6	84609728	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.741000	0.47426	2.424000	0.82194	0.561000	0.74099	GAA	DNAH6	-	NULL		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84756217	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	A
DYNC2H1	79659	genome.wustl.edu	37	11	103116084	103116084	+	Silent	SNP	A	A	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:103116084A>G	ENST00000375735.2	+	65	10167	c.10023A>G	c.(10021-10023)agA>agG	p.R3341R	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.R3348R	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3341	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATTATTGAGACGAGATCTGG	0.343																																																	0													69.0	64.0	65.0					11																	103116084		1815	4070	5885	SO:0001819	synonymous_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10023A>G	11.37:g.103116084A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R3348	ENST00000375735.2	37	c.10044	CCDS53701.1	11																																																																																			DYNC2H1	-	NULL		0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	A	XM_370652		103116084	+1	no_errors	ENST00000398093	ensembl	human	known	70_37	silent	SNP	1.000	G
DSCAML1	57453	genome.wustl.edu	37	11	117667944	117667944	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:117667944C>T	ENST00000321322.6	-	1	32	c.31G>A	c.(31-33)Gag>Aag	p.E11K	DSCAML1_ENST00000527706.1_5'Flank	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGCGGCGGCTCCTCCCTCCTC	0.806																																																	0													4.0	5.0	5.0					11																	117667944		1536	3052	4588	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.31G>A	11.37:g.117667944C>T	ENSP00000315465:p.Glu11Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E11K	ENST00000321322.6	37	c.31	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483763	0.84854	.	.	ENSG00000177103	ENST00000321322	T	0.59224	0.28	4.59	4.59	0.56863	.	.	.	.	.	T	0.61763	0.2373	.	.	.	0.32004	N	0.602995	.	.	.	.	.	.	T	0.66972	-0.5788	5	.	.	.	.	14.4867	0.67622	0.0:1.0:0.0:0.0	.	.	.	.	K	11	ENSP00000315465:E11K	.	E	-	1	0	DSCAML1	117173154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.545000	0.45769	2.252000	0.74401	0.462000	0.41574	GAG	DSCAML1	-	NULL		0.806	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693		117667944	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	1.000	T
EGFR	1956	genome.wustl.edu	37	7	55242423	55242423	+	Nonsense_Mutation	SNP	G	G	A	rs121913467		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr7:55242423G>A	ENST00000275493.2	+	19	2370	c.2193G>A	c.(2191-2193)tgG>tgA	p.W731*	EGFR_ENST00000455089.1_Nonsense_Mutation_p.W686*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.W678*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	731	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.W731*(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGGGACTCTGGATCCCAGAAG	0.473		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	2	Substitution - Nonsense(2)	adrenal_gland(1)|lung(1)											90.0	90.0	90.0					7																	55242423		2203	4300	6503	SO:0001587	stop_gained	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2193G>A	7.37:g.55242423G>A	ENSP00000275493:p.Trp731*	Somatic		WXS	Illumina HiSeq	Phase_IV	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.W731*	ENST00000275493.2	37	c.2193	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.311080	0.99133	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	.	.	.	5.56	5.56	0.83823	.	0.053119	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0753	0.89425	0.0:0.0:1.0:0.0	.	.	.	.	X	686;601;731;678	.	ENSP00000275493:W731X	W	+	3	0	EGFR	55209917	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.754000	0.98908	2.605000	0.88082	0.561000	0.74099	TGG	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,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	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	G	NM_005228		55242423	+1	no_errors	ENST00000275493	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TENM2	57451	genome.wustl.edu	37	5	167297560	167297561	+	Intron	DEL	AT	AT	-	rs371549205		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr5:167297560_167297561delAT	ENST00000518659.1	+	3	541				TENM2_ENST00000520394.1_Intron|TENM2_ENST00000545108.1_Intron|AC093304.1_ENST00000408814.1_RNA|TENM2_ENST00000520393.1_Intron|TENM2_ENST00000519204.1_Intron	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2						axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										atgtgtatacatatatatatat	0.252																																																	0																																										SO:0001627	intron_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.503-5430AT>-	5.37:g.167297570_167297571delAT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULU2	RNA	DEL	-	NULL	ENST00000518659.1	37	NULL		5																																																																																			AC093304.1	-	-		0.252	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ENSG00000221741	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000376096.1	AT	NM_001122679		167297561	-1	no_errors	ENST00000408814	ensembl	human	novel	70_37	rna	DEL	0.001:0.001	-
RP5-827C21.2	0	genome.wustl.edu	37	1	234492770	234492770	+	RNA	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:234492770G>A	ENST00000425104.1	+	0	19																											CGCCGCTGGCGCGCACTGTAC	0.662																																																	0																																												0																															1.37:g.234492770G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425104.1	37	NULL		1																																																																																			RP5-827C21.2	-	-		0.662	RP5-827C21.2-001	KNOWN	basic	antisense	ENSG00000236358	Clone_based_vega_gene	antisense	OTTHUMT00000092611.1	G			234492770	+1	no_errors	ENST00000425104	ensembl	human	putative	70_37	rna	SNP	0.995	A
KCNIP4	80333	genome.wustl.edu	37	4	21699107	21699109	+	Intron	DEL	AAT	AAT	-			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	AAT	AAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr4:21699107_21699109delAAT	ENST00000382152.2	-	1	229				RP11-556G22.2_ENST00000511835.1_RNA|KCNIP4_ENST00000382148.3_5'UTR|KCNIP4_ENST00000447367.2_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGTCTTTGCCaataataataata	0.399																																																	0																																										SO:0001627	intron_variant	0			AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.61+251084ATT>-	4.37:g.21699116_21699118delAAT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	RNA	DEL	-	NULL	ENST00000382152.2	37	NULL	CCDS43216.1	4																																																																																			RP11-556G22.2	-	-		0.399	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	ENSG00000248343	Clone_based_vega_gene	protein_coding	OTTHUMT00000360407.3	AAT	NM_025221		21699109	+1	no_errors	ENST00000511835	ensembl	human	known	70_37	rna	DEL	1.000:0.976:0.554	-
SLC50A1	55974	genome.wustl.edu	37	1	155109218	155109219	+	Intron	INS	-	-	A	rs79371436|rs77580597		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:155109218_155109219insA	ENST00000368404.4	+	3	220				SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000368401.5_Intron|SLC50A1_ENST00000303343.8_Intron|SLC50A1_ENST00000368405.3_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1						carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						gactacgtctcaaaaaaaaaaa	0.579																																																	0																																										SO:0001627	intron_variant	0			AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.159-85->A	1.37:g.155109229_155109229dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	RNA	INS	-	NULL	ENST00000368404.4	37	NULL	CCDS1093.1	1																																																																																			RP11-540D14.6	-	-		0.579	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250784	Clone_based_vega_gene	protein_coding	OTTHUMT00000085505.1	-	NM_018845		155109219	+1	no_errors	ENST00000506037	ensembl	human	known	70_37	rna	INS	0.083:0.075	A
SLC50A1	55974	genome.wustl.edu	37	1	155109219	155109219	+	Intron	DEL	A	A	-	rs79371436		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:155109219delA	ENST00000368404.4	+	3	220				SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000368401.5_Intron|SLC50A1_ENST00000303343.8_Intron|SLC50A1_ENST00000368405.3_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1						carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						actacgtctcaaaaaaaaaaa	0.577																																																	0																																										SO:0001627	intron_variant	0			AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.159-85A>-	1.37:g.155109219delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	RNA	DEL	-	NULL	ENST00000368404.4	37	NULL	CCDS1093.1	1																																																																																			RP11-540D14.6	-	-		0.577	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250784	Clone_based_vega_gene	protein_coding	OTTHUMT00000085505.1	A	NM_018845		155109219	+1	no_errors	ENST00000506037	ensembl	human	known	70_37	rna	DEL	0.075	-
BAG5	9529	genome.wustl.edu	37	14	104028196	104028197	+	Intron	INS	-	-	A	rs75347400|rs562770835|rs34050832|rs397810530	byFrequency	TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr14:104028196_104028197insA	ENST00000445922.2	-	1	219				BAG5_ENST00000299204.4_Intron|RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000337322.4_Intron|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5						negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCCACTCTCTCAAAAAAAAACA	0.535													AAAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|deletion	1204	0.240415	0.1104	0.3372	5008	,	,		16878	0.3472		0.2863	False		,,,				2504	0.1902				NSCLC(171;1832 2055 18950 31566 41632)												0																																										SO:0001627	intron_variant	0			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.27+239->T	14.37:g.104028205_104028205dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	O94950|Q86W59	RNA	INS	-	NULL	ENST00000445922.2	37	NULL	CCDS9982.1	14																																																																																			RP11-894P9.2	-	-		0.535	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258851	Clone_based_vega_gene	protein_coding	OTTHUMT00000414990.1	-			104028197	+1	no_errors	ENST00000556332	ensembl	human	known	70_37	rna	INS	0.000:0.004	A
PRTG	283659	genome.wustl.edu	37	15	55972660	55972661	+	Intron	INS	-	-	T	rs35467969		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr15:55972660_55972661insT	ENST00000389286.4	-	5	862				RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AAGGAAAAGACTTTTTTTTTTT	0.322																																																	0																																										SO:0001627	intron_variant	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.814+27->A	15.37:g.55972671_55972671dupT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000389286.4	37	NULL	CCDS42040.1	15																																																																																			RP11-420M1.2	-	-		0.322	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259180	Clone_based_vega_gene	protein_coding	OTTHUMT00000419357.1	-	NM_173814		55972661	+1	no_errors	ENST00000561155	ensembl	human	known	70_37	rna	INS	0.000:0.000	T
RP11-643G16.4	0	genome.wustl.edu	37	14	68082933	68082934	+	RNA	INS	-	-	T	rs78984048|rs397960376|rs398057192|rs58523459|rs78928998	byFrequency	TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr14:68082933_68082934insT	ENST00000559968.1	+	0	1288_1289				Y_RNA_ENST00000364659.1_RNA																							TGTACACTGTCTTTTTTTTTTT	0.337													|||unknown(LONG_INSERTION)	1854	0.370208	0.5703	0.3516	5008	,	,		18821	0.3294		0.2664	False		,,,				2504	0.2618																0																																												0																															14.37:g.68082944_68082944dupT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000559968.1	37	NULL		14																																																																																			RP11-643G16.4	-	-		0.337	RP11-643G16.4-002	KNOWN	basic	processed_transcript	ENSG00000259648	Clone_based_vega_gene	pseudogene	OTTHUMT00000417022.1	-			68082934	+1	no_errors	ENST00000559968	ensembl	human	known	70_37	rna	INS	0.998:0.999	T
ENTPD4	9583	genome.wustl.edu	37	8	23292045	23292046	+	Intron	DEL	CA	CA	-	rs139348326		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr8:23292045_23292046delCA	ENST00000358689.4	-	12	1696				ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4						UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCAAGATGGcacacacacaca	0.545																																																	0																																										SO:0001627	intron_variant	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1461-54TG>-	8.37:g.23292055_23292056delCA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSS3|O15092	RNA	DEL	-	NULL	ENST00000358689.4	37	NULL	CCDS6041.1	8																																																																																			ENTPD4	-	-		0.545	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000215142.1	CA	NM_004901		23292046	-1	no_errors	ENST00000522913	ensembl	human	known	70_37	rna	DEL	0.000:0.000	-
ESPNP	284729	genome.wustl.edu	37	1	17023034	17023034	+	RNA	SNP	G	G	C			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:17023034G>C	ENST00000492551.1	-	0	1829					NR_026567.1				espin pseudogene																		GCGTGGGGATGAGCGCCTCCA	0.667																																																	0																																												284729			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023034G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-		0.667	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	G			17023034	-1	no_errors	ENST00000492551	ensembl	human	known	70_37	rna	SNP	1.000	C
FAM198A	729085	genome.wustl.edu	37	3	43074889	43074889	+	Silent	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:43074889G>A	ENST00000430121.2	+	2	1229	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	KRBOX1_ENST00000443313.1_Intron	NM_001129908.2	NP_001123380.2	Q9UFP1	F198A_HUMAN	family with sequence similarity 198, member A	378						extracellular region (GO:0005576)				endometrium(1)	1						TGCAGCACCTGAGCGACCCAG	0.652																																																	0													41.0	41.0	41.0					3																	43074889		692	1591	2283	SO:0001819	synonymous_variant	729085			AL117530	CCDS46808.1	3p22.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000144649	ENSG00000144649			24485	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 41"""	C3orf41			Standard	NM_001129908		Approved	DKFZP434B172	uc003cmp.4	Q9UFP1	OTTHUMG00000156449	ENST00000430121.2:c.1134G>A	3.37:g.43074889G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR48	Silent	SNP	NULL	p.L378	ENST00000430121.2	37	c.1134	CCDS46808.1	3																																																																																			FAM198A	-	NULL		0.652	FAM198A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM198A	HGNC	protein_coding	OTTHUMT00000344240.3	G	NM_001129908		43074889	+1	no_errors	ENST00000273146	ensembl	human	known	70_37	silent	SNP	0.737	A
FAM27L	284123	genome.wustl.edu	37	17	21825355	21825355	+	lincRNA	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr17:21825355C>T	ENST00000426869.3	+	0	59					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ccagggttgtcgtagaaacca	0.617																																																	0																																												284123			BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825355C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000426869.3	37	NULL		17																																																																																			FAM27L	-	-		0.617	FAM27L-001	KNOWN	basic	lincRNA	FAM27L	HGNC	lincRNA	OTTHUMT00000389059.2	C	NM_203392		21825355	+1	no_errors	ENST00000426869	ensembl	human	known	70_37	rna	SNP	0.001	T
FAM46B	115572	genome.wustl.edu	37	1	27332618	27332618	+	Silent	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:27332618C>T	ENST00000289166.5	-	2	1260	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	365										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGGTCCAGCGTCTGGCGGC	0.697																																																	0													27.0	24.0	25.0					1																	27332618		2201	4298	6499	SO:0001819	synonymous_variant	115572			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.1095G>A	1.37:g.27332618C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_DUF1693	p.T365	ENST00000289166.5	37	c.1095	CCDS294.2	1																																																																																			FAM46B	-	pfam_DUF1693		0.697	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2	C	NM_052943		27332618	-1	no_errors	ENST00000289166	ensembl	human	known	70_37	silent	SNP	0.006	T
FAT2	2196	genome.wustl.edu	37	5	150889679	150889679	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr5:150889679C>G	ENST00000261800.5	-	21	11974	c.11962G>C	c.(11962-11964)Gag>Cag	p.E3988Q	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3988	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACAGTTCTCCCTTCCTTGT	0.527																																																	0													153.0	151.0	151.0					5																	150889679		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11962G>C	5.37:g.150889679C>G	ENSP00000261800:p.Glu3988Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E3988Q	ENST00000261800.5	37	c.11962	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.453|6.453	0.451701|0.451701	0.12223|0.12223	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	D|.	0.91792|.	-2.91|.	5.12|5.12	4.25|4.25	0.50352|0.50352	Epidermal growth factor-like, type 3 (1);|.	0.877726|.	0.09975|.	N|.	0.731744|.	T|T	0.24084|0.24084	0.0583|0.0583	N|N	0.17312|0.17312	0.475|0.475	0.09310|0.09310	N|N	1|1	B;B|.	0.28128|.	0.003;0.201|.	B;B|.	0.26770|.	0.002;0.073|.	T|T	0.18524|0.18524	-1.0334|-1.0334	10|5	0.38643|.	T|.	0.18|.	.|.	8.5831|8.5831	0.33642|0.33642	0.0:0.7766:0.0:0.2234|0.0:0.7766:0.0:0.2234	.|.	3988;1093|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	Q|A	3988|760	ENSP00000261800:E3988Q|.	ENSP00000261800:E3988Q|.	E|G	-|-	1|2	0|0	FAT2|FAT2	150869872|150869872	0.056000|0.056000	0.20664|0.20664	0.193000|0.193000	0.23327|0.23327	0.055000|0.055000	0.15305|0.15305	2.332000|2.332000	0.43903|0.43903	1.150000|1.150000	0.42419|0.42419	0.655000|0.655000	0.94253|0.94253	GAG|GGA	FAT2	-	smart_EGF-like_Ca-bd,pfscan_EG-like_dom		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	C	NM_001447		150889679	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.104	G
FCHO1	23149	genome.wustl.edu	37	19	17885254	17885254	+	Missense_Mutation	SNP	G	G	A	rs530821806		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:17885254G>A	ENST00000596536.1	+	13	1170	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	FCHO1_ENST00000389133.4_Missense_Mutation_p.R296Q|FCHO1_ENST00000595033.1_Missense_Mutation_p.R246Q|FCHO1_ENST00000252771.7_Missense_Mutation_p.R296Q|FCHO1_ENST00000597512.1_Missense_Mutation_p.R303Q|FCHO1_ENST00000594202.1_Missense_Mutation_p.R296Q|FCHO1_ENST00000539407.1_Missense_Mutation_p.R296Q|FCHO1_ENST00000596951.1_Missense_Mutation_p.R296Q|FCHO1_ENST00000600676.1_Missense_Mutation_p.R296Q	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	296	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGACTAAGCCGGCGGGAGCGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17792	0.001		0.0	False		,,,				2504	0.0																0													42.0	45.0	44.0					19																	17885254		2203	4299	6502	SO:0001583	missense	23149			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.887G>A	19.37:g.17885254G>A	ENSP00000470731:p.Arg296Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH	p.R296Q	ENST00000596536.1	37	c.887	CCDS32955.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562176	0.86335	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.34859	1.34;1.34;1.34	5.09	5.09	0.68999	.	0.054916	0.64402	D	0.000001	T	0.46521	0.1397	L	0.40543	1.245	0.35966	D	0.834977	D;D;D	0.89917	0.997;0.999;1.0	P;P;D	0.64237	0.716;0.839;0.923	T	0.49679	-0.8914	10	0.25751	T	0.34	-24.5549	13.9704	0.64237	0.0:0.0:1.0:0.0	.	246;296;296	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	Q	296	ENSP00000252771:R296Q;ENSP00000373785:R296Q;ENSP00000437978:R296Q	ENSP00000252771:R296Q	R	+	2	0	FCHO1	17746254	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.165000	0.58196	2.353000	0.79882	0.484000	0.47621	CGG	FCHO1	-	NULL		0.637	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	HGNC	protein_coding	OTTHUMT00000466946.2	G	NM_015122		17885254	+1	no_errors	ENST00000252771	ensembl	human	known	70_37	missense	SNP	1.000	A
GATA2	2624	genome.wustl.edu	37	3	128199829	128199829	+	3'UTR	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:128199829G>A	ENST00000341105.2	-	0	1807				GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_3'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2						blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CACCCATCCCGGGAGTGCCCG	0.687			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													15.0	16.0	15.0					3																	128199829		2198	4295	6493	SO:0001624	3_prime_UTR_variant	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.*33C>T	3.37:g.128199829G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	RNA	SNP	-	NULL	ENST00000341105.2	37	NULL	CCDS3049.1	3																																																																																			GATA2	-	-		0.687	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	G	NM_032638		128199829	-1	no_errors	ENST00000489987	ensembl	human	known	70_37	rna	SNP	0.002	A
GBP5	115362	genome.wustl.edu	37	1	89735176	89735176	+	Silent	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:89735176C>T	ENST00000370459.3	-	2	190	c.63G>A	c.(61-63)ctG>ctA	p.L21L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Silent_p.L21L			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	21	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GATTAACCTTCAGCTGCTCAT	0.488																																																	0													254.0	235.0	241.0					1																	89735176		2203	4300	6503	SO:0001819	synonymous_variant	115362			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.63G>A	1.37:g.89735176C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCE1|Q86TM5	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.L21	ENST00000370459.3	37	c.63	CCDS722.1	1																																																																																			GBP5	-	pfam_Guanylate-bd_N		0.488	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	HGNC	protein_coding	OTTHUMT00000027700.1	C	NM_052942		89735176	-1	no_errors	ENST00000343435	ensembl	human	known	70_37	silent	SNP	0.000	T
GPR113	165082	genome.wustl.edu	37	2	26534373	26534373	+	Silent	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:26534373G>T	ENST00000311519.1	-	11	2222	c.2223C>A	c.(2221-2223)gcC>gcA	p.A741A	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.A542A|GPR113_ENST00000421160.2_Silent_p.A672A|GPR113_ENST00000541401.1_Silent_p.A344A	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	741	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGGGGCTGGCACTGGCCA	0.617																																																	0													83.0	93.0	90.0					2																	26534373		2203	4300	6503	SO:0001819	synonymous_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2223C>A	2.37:g.26534373G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A542	ENST00000311519.1	37	c.1626	CCDS46239.1	2																																																																																			GPR113	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom		0.617	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26534373	-1	no_errors	ENST00000333478	ensembl	human	known	70_37	silent	SNP	0.000	T
GRM1	2911	genome.wustl.edu	37	6	146755620	146755620	+	Silent	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:146755620C>T	ENST00000282753.1	+	8	3508	c.3273C>T	c.(3271-3273)tcC>tcT	p.S1091S	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Silent_p.S1091S|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1091					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGCTGGTCTCCCCGCCCGCGG	0.662																																																	0													64.0	70.0	68.0					6																	146755620		2203	4300	6503	SO:0001819	synonymous_variant	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3273C>T	6.37:g.146755620C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.S1091	ENST00000282753.1	37	c.3273	CCDS5209.1	6																																																																																			GRM1	-	NULL		0.662	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	C	NM_000838		146755620	+1	no_errors	ENST00000282753	ensembl	human	known	70_37	silent	SNP	0.645	T
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G	rs202030378|rs372212945	byFrequency	TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCCA	0.505													GGGGG|GGGG|GGGGG|deletion	3786	0.75599	0.7247	0.8242	5008	,	,		6539	0.7212		0.8101	False		,,,				2504	0.7301																0																																												401375			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664019_72664019dupG		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-		0.505	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	-	NR_002164		72664016	-1	no_errors	ENST00000425256	ensembl	human	known	70_37	rna	INS	0.912:0.964	G
GRM8	2918	genome.wustl.edu	37	7	126249491	126249491	+	Silent	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr7:126249491G>A	ENST00000339582.2	-	8	2227	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Silent_p.I473I|GRM8_ENST00000405249.1_Missense_Mutation_p.S497F|GRM8_ENST00000444921.2_Silent_p.I473I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	473					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GATACTGGAAGATATCATAAC	0.363										HNSCC(24;0.065)																																							0													178.0	156.0	163.0					7																	126249491		2203	4300	6503	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1419C>T	7.37:g.126249491G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.S497F	ENST00000339582.2	37	c.1490	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920061	0.33908	.	.	ENSG00000179603	ENST00000405249	D	0.90324	-2.65	5.45	3.14	0.36123	.	.	.	.	.	D	0.88269	0.6391	.	.	.	0.25322	N	0.989109	.	.	.	.	.	.	T	0.80975	-0.1142	6	0.87932	D	0	.	5.0107	0.14312	0.1494:0.0:0.6406:0.21	.	.	.	.	F	497	ENSP00000385731:S497F	ENSP00000345747:S497F	S	-	2	0	GRM8	126036727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.814000	0.38972	2.535000	0.85469	0.563000	0.77884	TCT	GRM8	-	NULL		0.363	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	G			126249491	-1	no_errors	ENST00000341617	ensembl	human	known	70_37	missense	SNP	1.000	A
GTSE1	51512	genome.wustl.edu	37	22	46725458	46725458	+	Silent	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:46725458G>T	ENST00000454366.1	+	11	2342	c.2130G>T	c.(2128-2130)gtG>gtT	p.V710V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	691					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CACCGGTGGTGGGACAGGTGA	0.537																																					GBM(153;542 1915 12487 29016 50495)												0													64.0	53.0	57.0					22																	46725458		2203	4300	6503	SO:0001819	synonymous_variant	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2130G>T	22.37:g.46725458G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	NULL	p.V710	ENST00000454366.1	37	c.2130	CCDS14074.2	22																																																																																			GTSE1	-	NULL		0.537	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	G	NM_016426		46725458	+1	no_errors	ENST00000454366	ensembl	human	known	70_37	silent	SNP	0.058	T
HAAO	23498	genome.wustl.edu	37	2	42997641	42997641	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:42997641G>C	ENST00000294973.6	-	5	487	c.432C>G	c.(430-432)atC>atG	p.I144M		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						ACTCCTGGATGATGGGGGCCA	0.612																																																	0													41.0	32.0	35.0					2																	42997641		2171	4235	6406	SO:0001583	missense	23498			Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.432C>G	2.37:g.42997641G>C	ENSP00000294973:p.Ile144Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase	p.I144M	ENST00000294973.6	37	c.432	CCDS33187.1	2	.	.	.	.	.	.	.	.	.	.	g	17.90	3.503219	0.64298	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.34275	1.37;1.37	4.49	4.49	0.54785	Cupin, RmlC-type (1);	0.131432	0.49305	D	0.000142	T	0.50154	0.1599	M	0.63208	1.945	0.54753	D	0.999985	P	0.47841	0.901	P	0.56216	0.794	T	0.47873	-0.9083	10	0.46703	T	0.11	7.7519	13.4278	0.61037	0.0:0.0:1.0:0.0	.	144	P46952	3HAO_HUMAN	M	144;110	ENSP00000294973:I144M;ENSP00000412601:I110M	ENSP00000294973:I144M	I	-	3	3	HAAO	42851145	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.061000	0.30542	2.447000	0.82792	0.550000	0.68814	ATC	HAAO	-	pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase		0.612	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAAO	HGNC	protein_coding	OTTHUMT00000325948.2	G			42997641	-1	no_errors	ENST00000294973	ensembl	human	known	70_37	missense	SNP	1.000	C
HARS2	23438	genome.wustl.edu	37	5	140077661	140077661	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr5:140077661G>A	ENST00000230771.3	+	12	1682	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	ZMAT2_ENST00000274712.3_5'Flank|HARS2_ENST00000508522.1_Missense_Mutation_p.E462K|HARS2_ENST00000435019.2_Missense_Mutation_p.E447K|HARS2_ENST00000448069.2_Missense_Mutation_p.E315K|HARS2_ENST00000437649.2_Missense_Mutation_p.E413K|HARS2_ENST00000432671.2_Missense_Mutation_p.E373K	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	487					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGAGGAGGTGAGTGG	0.468																																																	0													58.0	57.0	57.0					5																	140077661		2203	4300	6503	SO:0001583	missense	23438			U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.1459G>A	5.37:g.140077661G>A	ENSP00000230771:p.Glu487Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDY8	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase	p.E487K	ENST00000230771.3	37	c.1459	CCDS4238.1	5	.	.	.	.	.	.	.	.	.	.	g	35	5.570871	0.96540	.	.	ENSG00000112855	ENST00000230771;ENST00000435019;ENST00000437649;ENST00000432671;ENST00000508522;ENST00000448069;ENST00000427675	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.26	5.26	0.73747	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.92554	0.7635	M	0.93420	3.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.93445	0.6797	10	0.54805	T	0.06	-0.5976	19.0611	0.93093	0.0:0.0:1.0:0.0	.	340;315;413;462;487	E9PD60;B4DQ67;E9PG66;B4DDY8;P49590	.;.;.;.;SYHM_HUMAN	K	487;447;413;373;462;315;326	ENSP00000230771:E487K;ENSP00000412887:E447K;ENSP00000411708:E413K;ENSP00000415007:E373K;ENSP00000423616:E462K;ENSP00000407105:E315K	ENSP00000230771:E487K	E	+	1	0	HARS2	140057845	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	GAG	HARS2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,tigrfam_His-tRNA-ligase		0.468	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS2	HGNC	protein_coding	OTTHUMT00000251670.2	G	NM_012208		140077661	+1	no_errors	ENST00000230771	ensembl	human	known	70_37	missense	SNP	1.000	A
HIRA	7290	genome.wustl.edu	37	22	19373227	19373227	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:19373227G>T	ENST00000263208.5	-	12	1402	c.1146C>A	c.(1144-1146)agC>agA	p.S382R	HIRA_ENST00000546308.1_Missense_Mutation_p.S338R|HIRA_ENST00000340170.4_Missense_Mutation_p.S382R|HIRA_ENST00000541063.1_Missense_Mutation_p.S338R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	382					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGATGGCTAGGCTCTTGCCAT	0.597																																																	0													97.0	77.0	84.0					22																	19373227		2203	4300	6503	SO:0001583	missense	7290			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1146C>A	22.37:g.19373227G>T	ENSP00000263208:p.Ser382Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05BU9|Q8IXN2	Missense_Mutation	SNP	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S382R	ENST00000263208.5	37	c.1146	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101761	0.56183	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.72282	-0.39;-0.64;-0.49;-0.45	5.65	1.24	0.21308	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.48362	1.52	0.80722	D	1	P;D;P	0.76494	0.594;0.999;0.459	P;D;B	0.80764	0.487;0.994;0.293	T	0.67292	-0.5707	10	0.12766	T	0.61	-20.7524	9.1998	0.37251	0.3398:0.0:0.6602:0.0	.	338;382;382	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	R	382;382;338;338	ENSP00000345350:S382R;ENSP00000263208:S382R;ENSP00000446073:S338R;ENSP00000441870:S338R	ENSP00000263208:S382R	S	-	3	2	HIRA	17753227	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.036000	0.30228	0.491000	0.27793	0.655000	0.94253	AGC	HIRA	-	NULL		0.597	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	G	NM_003325		19373227	-1	no_errors	ENST00000263208	ensembl	human	known	70_37	missense	SNP	1.000	T
HIVEP1	3096	genome.wustl.edu	37	6	12122774	12122774	+	Nonsense_Mutation	SNP	G	G	T	rs574039329		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:12122774G>T	ENST00000379388.2	+	4	3078	c.2746G>T	c.(2746-2748)Gga>Tga	p.G916*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	916					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G916R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCTTGGTACTGGACAGTCCCT	0.517																																																	1	Substitution - Missense(1)	ovary(1)											54.0	56.0	55.0					6																	12122774		2049	4191	6240	SO:0001587	stop_gained	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2746G>T	6.37:g.12122774G>T	ENSP00000368698:p.Gly916*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G916*	ENST00000379388.2	37	c.2746	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.018466	0.98613	.	.	ENSG00000095951	ENST00000379388	.	.	.	6.02	3.95	0.45737	.	0.314395	0.18109	N	0.151439	.	.	.	.	.	.	0.24271	N	0.99524	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.0355	9.4475	0.38706	0.1426:0.0:0.7358:0.1216	.	.	.	.	X	916	.	.	G	+	1	0	HIVEP1	12230760	0.209000	0.23505	0.630000	0.29268	0.383000	0.30230	1.616000	0.36933	1.569000	0.49696	0.655000	0.94253	GGA	HIVEP1	-	NULL		0.517	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12122774	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	nonsense	SNP	0.159	T
HNRNPKP3	399881	genome.wustl.edu	37	11	43284422	43284422	+	RNA	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:43284422G>T	ENST00000511537.1	-	0	513					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		TCAGATATAAGATCAAGGATA	0.373																																																	0																																												399881					11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43284422G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000511537.1	37	NULL		11																																																																																			HNRNPKP3	-	-		0.373	HNRNPKP3-003	KNOWN	basic	processed_transcript	HNRNPKP3	HGNC	pseudogene	OTTHUMT00000390385.1	G	NR_033868		43284422	-1	no_errors	ENST00000511537	ensembl	human	known	70_37	rna	SNP	0.995	T
INHBE	83729	genome.wustl.edu	37	12	57850050	57850050	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:57850050C>A	ENST00000266646.2	+	2	688	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	158					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCGCACTCTCCTGGCTGAGCA	0.597											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)												0													189.0	177.0	181.0					12																	57850050		2203	4300	6503	SO:0001583	missense	83729				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.472C>A	12.37:g.57850050C>A	ENSP00000266646:p.Leu158Met	Somatic	1026	WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.L158M	ENST00000266646.2	37	c.472	CCDS8939.1	12	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318388	0.23994	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.82167	-1.58;-1.12	4.61	2.79	0.32731	Transforming growth factor-beta, N-terminal (1);	1.194590	0.05898	N	0.629568	D	0.83243	0.5212	L	0.52011	1.625	0.30870	N	0.732524	P	0.46706	0.883	P	0.49887	0.625	T	0.72187	-0.4366	10	0.36615	T	0.2	-3.9508	7.1416	0.25558	0.0:0.7986:0.0:0.2014	.	158	P58166	INHBE_HUMAN	M	103;158	ENSP00000450212:L103M;ENSP00000266646:L158M	ENSP00000266646:L158M	L	+	1	2	INHBE	56136317	0.999000	0.42202	0.860000	0.33809	0.142000	0.21351	1.446000	0.35090	0.687000	0.31509	-0.122000	0.15005	CTG	INHBE	-	pfam_TGF-b_N		0.597	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	C	NM_031479		57850050	+1	no_errors	ENST00000266646	ensembl	human	known	70_37	missense	SNP	0.977	A
KCNH8	131096	genome.wustl.edu	37	3	19554568	19554568	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:19554568C>A	ENST00000328405.2	+	13	2452	c.2186C>A	c.(2185-2187)cCc>cAc	p.P729H		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	729					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCCCTCTCTCCCATCTGCACA	0.547																																					NSCLC(124;1625 1765 8018 24930 42026)												0													69.0	56.0	61.0					3																	19554568		2203	4300	6503	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2186C>A	3.37:g.19554568C>A	ENSP00000328813:p.Pro729His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,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,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.P729H	ENST00000328405.2	37	c.2186	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	13.27	2.185660	0.38609	.	.	ENSG00000183960	ENST00000328405	D	0.98717	-5.09	5.68	5.68	0.88126	.	0.000000	0.31660	U	0.007265	D	0.97216	0.9090	L	0.55481	1.735	0.44539	D	0.997499	B	0.19935	0.04	B	0.18561	0.022	D	0.95584	0.8649	9	.	.	.	.	17.9758	0.89127	0.0:1.0:0.0:0.0	.	729	Q96L42	KCNH8_HUMAN	H	729	ENSP00000328813:P729H	.	P	+	2	0	KCNH8	19529572	1.000000	0.71417	0.995000	0.50966	0.351000	0.29236	5.038000	0.64177	2.674000	0.91012	0.585000	0.79938	CCC	KCNH8	-	NULL		0.547	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	C	NM_144633		19554568	+1	no_errors	ENST00000328405	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF23	9493	genome.wustl.edu	37	15	69732248	69732248	+	Silent	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr15:69732248G>A	ENST00000260363.4	+	16	1836	c.1719G>A	c.(1717-1719)gaG>gaA	p.E573E	KIF23_ENST00000395392.2_Silent_p.E573E|KIF23_ENST00000352331.4_Silent_p.E573E|KIF23_ENST00000558585.1_Silent_p.E390E|KIF23_ENST00000559279.1_Silent_p.E573E|KIF23_ENST00000537891.1_Silent_p.E390E	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	573					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CCTAGATTGAGATTTTAGAGA	0.333																																																	0													54.0	51.0	52.0					15																	69732248		2199	4298	6497	SO:0001819	synonymous_variant	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1719G>A	15.37:g.69732248G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WVP0	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E573	ENST00000260363.4	37	c.1719	CCDS32278.1	15																																																																																			KIF23	-	NULL		0.333	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		G			69732248	+1	no_errors	ENST00000260363	ensembl	human	known	70_37	silent	SNP	0.999	A
KLC2	64837	genome.wustl.edu	37	11	66029354	66029354	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:66029354G>C	ENST00000417856.1	+	3	613	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	KLC2_ENST00000394067.2_Missense_Mutation_p.E124Q|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394066.2_Intron|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394078.1_Missense_Mutation_p.E124Q|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394065.2_5'UTR|KLC2_ENST00000316924.5_Missense_Mutation_p.E124Q	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	124					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGCGCAGTGAGCAGGCCGT	0.627																																																	0													70.0	62.0	65.0					11																	66029354		2200	4295	6495	SO:0001583	missense	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.370G>C	11.37:g.66029354G>C	ENSP00000399403:p.Glu124Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.E124Q	ENST00000417856.1	37	c.370	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744300	0.89663	.	.	ENSG00000174996	ENST00000417856;ENST00000526758;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000394078;ENST00000475757	T;T;D;T;T;T;D	0.87650	0.67;0.67;-2.28;0.67;0.67;0.67;-2.28	4.15	4.15	0.48705	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.64402	D	0.000002	D	0.93252	0.7850	M	0.82323	2.585	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.83275	0.996;0.903	D	0.93178	0.6572	10	0.41790	T	0.15	-27.2308	15.3609	0.74472	0.0:0.0:1.0:0.0	.	124;124	A8MX29;Q9H0B6	.;KLC2_HUMAN	Q	124	ENSP00000399403:E124Q;ENSP00000437026:E124Q;ENSP00000396952:E124Q;ENSP00000377631:E124Q;ENSP00000314837:E124Q;ENSP00000377641:E124Q;ENSP00000431253:E124Q	ENSP00000314837:E124Q	E	+	1	0	KLC2	65785930	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.513000	0.98010	2.140000	0.66376	0.561000	0.74099	GAG	KLC2	-	pfam_Rabaptin_Rab5-bd_dom		0.627	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	G	NM_022822		66029354	+1	no_errors	ENST00000316924	ensembl	human	known	70_37	missense	SNP	1.000	C
KRT84	3890	genome.wustl.edu	37	12	52778996	52778996	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:52778996C>T	ENST00000257951.3	-	1	440	c.374G>A	c.(373-375)aGa>aAa	p.R125K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	125	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCTCCAACTCTGTAACCAAA	0.582																																																	0													168.0	163.0	165.0					12																	52778996		2203	4300	6503	SO:0001583	missense	3890			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.374G>A	12.37:g.52778996C>T	ENSP00000257951:p.Arg125Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R125K	ENST00000257951.3	37	c.374	CCDS8825.1	12	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419386	0.62622	.	.	ENSG00000161849	ENST00000257951	T	0.75154	-0.91	5.15	4.25	0.50352	.	0.000000	0.52532	D	0.000072	T	0.56934	0.2019	N	0.19112	0.55	0.26282	N	0.978254	B	0.26318	0.146	B	0.24974	0.057	T	0.47195	-0.9136	10	0.28530	T	0.3	.	9.5556	0.39337	0.0:0.8372:0.0:0.1628	.	125	Q9NSB2	KRT84_HUMAN	K	125	ENSP00000257951:R125K	ENSP00000257951:R125K	R	-	2	0	KRT84	51065263	0.399000	0.25287	0.871000	0.34182	0.792000	0.44763	4.120000	0.57897	1.539000	0.49286	0.609000	0.83330	AGA	KRT84	-	NULL		0.582	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1	C	NM_033045		52778996	-1	no_errors	ENST00000257951	ensembl	human	known	70_37	missense	SNP	0.892	T
LATS1	9113	genome.wustl.edu	37	6	150005408	150005408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:150005408G>A	ENST00000543571.1	-	4	1364	c.817C>T	c.(817-819)Caa>Taa	p.Q273*	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.Q273*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.Q273*	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CGCTTTGTTTGAGAGTTTGGT	0.532																																																	0													184.0	176.0	179.0					6																	150005408		2203	4300	6503	SO:0001587	stop_gained	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.817C>T	6.37:g.150005408G>A	ENSP00000437550:p.Gln273*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.Q273*	ENST00000543571.1	37	c.817	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401859	0.83120	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	.	.	.	4.83	4.83	0.62350	.	0.000000	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8958	0.88887	0.0:0.0:1.0:0.0	.	.	.	.	X	273	.	.	Q	-	1	0	LATS1	150047101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.699000	0.61796	2.221000	0.72209	0.655000	0.94253	CAA	LATS1	-	NULL		0.532	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		150005408	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SEC62	7095	genome.wustl.edu	37	3	169684476	169684476	+	5'Flank	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:169684476C>T	ENST00000337002.4	+	0	0				SEC62_ENST00000480708.1_5'Flank|RP11-379K17.4_ENST00000487580.1_RNA|RP11-379K17.4_ENST00000469301.1_RNA|RP11-379K17.4_ENST00000600502.1_RNA|RP11-379K17.4_ENST00000483289.2_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)						cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CCGCTGGCCCCGCCAGGCGGC	0.677																																																	0																																										SO:0001631	upstream_gene_variant	100128164			D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753		3.37:g.169684476C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNQ0|O00682|O00729	RNA	SNP	-	NULL	ENST00000337002.4	37	NULL	CCDS3210.1	3																																																																																			RP11-379K17.4	-	-		0.677	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128164	Clone_based_vega_gene	protein_coding	OTTHUMT00000352043.1	C			169684476	-1	no_errors	ENST00000469301	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC01410	103352539	genome.wustl.edu	37	9	66466327	66466327	+	lincRNA	DEL	G	G	-	rs58593495	byFrequency	TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr9:66466327delG	ENST00000424345.1	+	0	960																											agcaggtccaggaatgcactt	0.483													|||unknown(NO_COVERAGE)	2677	0.534545	0.5023	0.5447	5008	,	,		41720	0.5357		0.5447	False		,,,				2504	0.5593																0																																												100996870																															9.37:g.66466327delG		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.483	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	G			66466327	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	DEL	0.090	-
LRP2	4036	genome.wustl.edu	37	2	170068628	170068628	+	Missense_Mutation	SNP	C	C	T	rs142266106	byFrequency	TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:170068628C>T	ENST00000263816.3	-	37	6415	c.6130G>A	c.(6130-6132)Gcc>Acc	p.A2044T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2044	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTGGCACAGGCGCAGGAAAAC	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		18645	0.001		0.0	False		,,,				2504	0.001																0								C	THR/ALA	0,4406		0,0,2203	114.0	122.0	119.0		6130	5.9	1.0	2	dbSNP_134	119	5,8595	4.3+/-15.6	0,5,4295	no	missense	LRP2	NM_004525.2	58	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging	2044/4656	170068628	5,13001	2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6130G>A	2.37:g.170068628C>T	ENSP00000263816:p.Ala2044Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A2044T	ENST00000263816.3	37	c.6130	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802422	0.90538	0.0	5.81E-4	ENSG00000081479	ENST00000263816	D	0.97016	-4.21	5.88	5.88	0.94601	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.049572	0.85682	D	0.000000	D	0.95968	0.8687	L	0.53780	1.695	0.80722	D	1	D	0.65815	0.995	P	0.51777	0.679	D	0.94708	0.7889	10	0.34782	T	0.22	.	14.9922	0.71396	0.1425:0.8575:0.0:0.0	.	2044	P98164	LRP2_HUMAN	T	2044	ENSP00000263816:A2044T	ENSP00000263816:A2044T	A	-	1	0	LRP2	169776874	1.000000	0.71417	0.991000	0.47740	0.785000	0.44390	4.622000	0.61240	2.780000	0.95670	0.655000	0.94253	GCC	LRP2	-	smart_EGF-like_Ca-bd,smart_EG-like_dom		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170068628	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	T
LSAMP	4045	genome.wustl.edu	37	3	115560788	115560788	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:115560788G>T	ENST00000490035.2	-	6	1322	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.L272M	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	275	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTCACCGTCAGGGAAGACTGG	0.488																																																	0													116.0	98.0	104.0					3																	115560788		2203	4300	6503	SO:0001583	missense	4045			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.823C>A	3.37:g.115560788G>T	ENSP00000419000:p.Leu275Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IV49	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L275M	ENST00000490035.2	37	c.823	CCDS2982.1	3	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407818	0.83340	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	D;D;D	0.89050	-2.46;-2.46;-2.46	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96312	0.8797	M	0.93898	3.47	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.85130	0.99;0.997	D	0.96608	0.9450	10	0.87932	D	0	-4.0684	20.206	0.98277	0.0:0.0:1.0:0.0	.	275;275	B2RCU8;Q13449	.;LSAMP_HUMAN	M	259;275;272	ENSP00000328455:L259M;ENSP00000419000:L275M;ENSP00000443429:L272M	ENSP00000328455:L259M	L	-	1	2	LSAMP	117043478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.785000	0.95823	0.655000	0.94253	CTG	LSAMP	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.488	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSAMP	HGNC	protein_coding	OTTHUMT00000354495.4	G	NM_002338		115560788	-1	no_errors	ENST00000490035	ensembl	human	known	70_37	missense	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39844931	39844931	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:39844931G>T	ENST00000372915.3	+	53	13435	c.13348G>T	c.(13348-13350)Ggg>Tgg	p.G4450W	MACF1_ENST00000564288.1_Missense_Mutation_p.G4445W|MACF1_ENST00000289893.4_Missense_Mutation_p.G2885W|MACF1_ENST00000545844.1_Missense_Mutation_p.G2383W|MACF1_ENST00000539005.1_Missense_Mutation_p.G2362W|MACF1_ENST00000567887.1_Missense_Mutation_p.G4482W|MACF1_ENST00000317713.7_Missense_Mutation_p.G2383W|MACF1_ENST00000361689.2_Missense_Mutation_p.G2383W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4450					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGAAACTAGGGGGAGTACT	0.463																																																	0													184.0	186.0	185.0					1																	39844931		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13348G>T	1.37:g.39844931G>T	ENSP00000362006:p.Gly4450Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.G2383W	ENST00000372915.3	37	c.7147		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.96|13.96	2.393937|2.393937	0.42410|0.42410	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35;1.35|.	6.04|6.04	5.12|5.12	0.69794|0.69794	.|.	0.189581|.	0.37012|.	N|.	0.002299|.	T|T	0.60676|0.60676	0.2287|0.2287	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	P;B;B|.	0.41450|.	0.75;0.11;0.24|.	P;B;P|.	0.47827|.	0.558;0.045;0.476|.	T|T	0.57406|0.57406	-0.7817|-0.7817	10|5	0.35671|.	T|.	0.21|.	.|.	17.0225|17.0225	0.86437|0.86437	0.0:0.0:0.872:0.128|0.0:0.0:0.872:0.128	.|.	4450;2383;2327|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	W|M	2383;4450;2383;2383;2362;2885|1495	ENSP00000439537:G2383W;ENSP00000362006:G4450W;ENSP00000354573:G2383W;ENSP00000313438:G2383W;ENSP00000444364:G2362W;ENSP00000289893:G2885W|.	ENSP00000289893:G2885W|.	G|R	+|+	1|2	0|0	MACF1|MACF1	39617518|39617518	1.000000|1.000000	0.71417|0.71417	0.169000|0.169000	0.22859|0.22859	0.710000|0.710000	0.40934|0.40934	7.398000|7.398000	0.79919|0.79919	1.548000|1.548000	0.49413|0.49413	0.650000|0.650000	0.86243|0.86243	GGG|AGG	MACF1	-	smart_Spectrin/alpha-actinin		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39844931	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	T
MAP2	4133	genome.wustl.edu	37	2	210559516	210559516	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:210559516G>T	ENST00000360351.4	+	7	3128	c.2622G>T	c.(2620-2622)aaG>aaT	p.K874N	MAP2_ENST00000447185.1_Missense_Mutation_p.K870N|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	874					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGTTCAATAAGTACACAGTCC	0.453																																					Pancreas(27;423 979 28787 29963)												0													79.0	69.0	72.0					2																	210559516		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2622G>T	2.37:g.210559516G>T	ENSP00000353508:p.Lys874Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.K874N	ENST00000360351.4	37	c.2622	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843030	0.51057	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25749	1.78;1.78	5.8	-1.39	0.08997	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000005	T	0.42291	0.1196	L	0.59436	1.845	0.40747	D	0.98288	D;D	0.76494	0.999;0.999	D;D	0.74674	0.973;0.984	T	0.32268	-0.9913	10	0.87932	D	0	-22.6064	13.5517	0.61736	0.4351:0.0:0.5649:0.0	.	870;874	P11137-3;P11137	.;MAP2_HUMAN	N	874;870	ENSP00000353508:K874N;ENSP00000392164:K870N	ENSP00000353508:K874N	K	+	3	2	MAP2	210267761	0.811000	0.29063	0.988000	0.46212	0.958000	0.62258	0.031000	0.13710	-0.476000	0.06842	-0.295000	0.09555	AAG	MAP2	-	pfam_MAP2_projctn		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210559516	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	0.988	T
MAPKAPK2	9261	genome.wustl.edu	37	1	206904645	206904646	+	Intron	DEL	GT	GT	-	rs184349902|rs368231892	byFrequency	TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:206904645_206904646delGT	ENST00000367103.3	+	7	1085				MAPKAPK2_ENST00000294981.4_Intron|MAPKAPK2_ENST00000479009.1_3'UTR	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGAAGAGCCCgtgtgtgtgtgt	0.525																																																	0																																										SO:0001627	intron_variant	9261			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.892+38GT>-	1.37:g.206904655_206904656delGT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SY30|Q5SY41|Q8IYD6	RNA	DEL	-	NULL	ENST00000367103.3	37	NULL	CCDS31001.1	1																																																																																			MAPKAPK2	-	-		0.525	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1	GT	NM_004759		206904646	+1	no_errors	ENST00000479009	ensembl	human	putative	70_37	rna	DEL	0.000:0.000	-
MCM5	4174	genome.wustl.edu	37	22	35804402	35804402	+	Splice_Site	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:35804402G>A	ENST00000216122.4	+	6	752	c.598G>A	c.(598-600)Gat>Aat	p.D200N	MCM5_ENST00000382011.5_Splice_Site_p.D157N	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	200					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTTGTACAGAGATCAGGCTGG	0.562																																																	0													65.0	60.0	62.0					22																	35804402		2203	4300	6503	SO:0001630	splice_region_variant	4174				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.597-1G>A	22.37:g.35804402G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase	p.D200N	ENST00000216122.4	37	c.598	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812759	0.70912	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582;ENST00000444778	T;T;T	0.04706	3.57;3.57;3.57	4.35	4.35	0.52113	Nucleic acid-binding, OB-fold-like (1);	0.061325	0.64402	D	0.000006	T	0.03520	0.0101	N	0.11000	0.08	0.54753	D	0.999984	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.52852	-0.8520	10	0.20046	T	0.44	-18.1826	17.4517	0.87594	0.0:0.0:1.0:0.0	.	157;200	B1AHB1;P33992	.;MCM5_HUMAN	N	200;157;109;57	ENSP00000216122:D200N;ENSP00000371441:D157N;ENSP00000408705:D57N	ENSP00000216122:D200N	D	+	1	0	MCM5	34134402	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	9.117000	0.94347	2.418000	0.82041	0.655000	0.94253	GAT	MCM5	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase		0.562	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	G		Missense_Mutation	35804402	+1	no_errors	ENST00000216122	ensembl	human	known	70_37	missense	SNP	1.000	A
MCOLN1	57192	genome.wustl.edu	37	19	7595354	7595354	+	Silent	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:7595354C>T	ENST00000264079.6	+	12	1667	c.1542C>T	c.(1540-1542)atC>atT	p.I514I		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	514					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCTCTTCATCGCGCTCATCA	0.622																																																	0													214.0	201.0	206.0					19																	7595354		2203	4300	6503	SO:0001819	synonymous_variant	57192			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1542C>T	19.37:g.7595354C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.I514	ENST00000264079.6	37	c.1542	CCDS12180.1	19																																																																																			MCOLN1	-	pfam_PKD1_2_channel		0.622	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	C	NM_020533		7595354	+1	no_errors	ENST00000264079	ensembl	human	known	70_37	silent	SNP	0.988	T
MED8	112950	genome.wustl.edu	37	1	43853286	43853286	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:43853286G>A	ENST00000372457.4	-	3	201	c.158C>T	c.(157-159)tCt>tTt	p.S53F	SZT2_ENST00000562955.1_5'Flank|MED8_ENST00000290663.6_Missense_Mutation_p.S53F|RP1-92O14.6_ENST00000436713.1_RNA|SZT2_ENST00000372450.4_5'Flank|MED8_ENST00000372455.4_5'UTR|SZT2_ENST00000310739.4_5'Flank	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	53					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCTGTCCAGAAAGCAAGGC	0.483																																																	0													151.0	152.0	151.0					1																	43853286		2203	4300	6503	SO:0001583	missense	112950			AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.158C>T	1.37:g.43853286G>A	ENSP00000361535:p.Ser53Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	pfam_Mediatior_Med8_fun/met	p.S53F	ENST00000372457.4	37	c.158	CCDS487.2	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904032	0.92035	.	.	ENSG00000159479	ENST00000290663;ENST00000372457	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.84392	0.5462	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.85583	0.1241	9	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	53;53	Q96G25;Q96G25-2	MED8_HUMAN;.	F	53	.	ENSP00000290663:S53F	S	-	2	0	MED8	43625873	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.804000	0.99143	2.769000	0.95229	0.655000	0.94253	TCT	MED8	-	pfam_Mediatior_Med8_fun/met		0.483	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED8	HGNC	protein_coding	OTTHUMT00000318959.1	G	NM_052877		43853286	-1	no_errors	ENST00000290663	ensembl	human	known	70_37	missense	SNP	1.000	A
MIXL1	83881	genome.wustl.edu	37	1	226413277	226413277	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:226413277C>T	ENST00000366810.5	+	2	527	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	MIXL1_ENST00000542034.1_Missense_Mutation_p.P163S|MIXL1_ENST00000557734.1_3'UTR			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	155					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		TTTGGCTAGGCCGGAGATTAT	0.517																																					Pancreas(72;1302 1881 20981 22800)												0													93.0	89.0	91.0					1																	226413277		2203	4300	6503	SO:0001583	missense	83881			AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"""Homeoboxes / PRD class"""	13363	protein-coding gene	gene with protein product		609852	"""Mix1 homeobox (Xenopus laevis)-like 1"", ""Mix1 homeobox-like 1 (Xenopus laevis)"""			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.463C>T	1.37:g.226413277C>T	ENSP00000355775:p.Pro155Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLF9	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P155S	ENST00000366810.5	37	c.463	CCDS1552.1	1	.	.	.	.	.	.	.	.	.	.	C	8.956	0.969398	0.18659	.	.	ENSG00000185155	ENST00000542034;ENST00000366810	T;T	0.13538	2.58;2.58	5.5	3.58	0.41010	Homeodomain-like (1);	0.304019	0.23558	N	0.046892	T	0.08802	0.0218	L	0.29908	0.895	0.09310	N	1	P	0.34462	0.454	B	0.29598	0.104	T	0.26052	-1.0114	10	0.30078	T	0.28	-0.0873	8.9166	0.35585	0.1697:0.6669:0.1634:0.0	.	155	Q9H2W2	MIXL1_HUMAN	S	163;155	ENSP00000442439:P163S;ENSP00000355775:P155S	ENSP00000355775:P155S	P	+	1	0	MIXL1	224479900	0.008000	0.16893	0.007000	0.13788	0.061000	0.15899	0.758000	0.26447	0.642000	0.30620	0.655000	0.94253	CCG	MIXL1	-	superfamily_Homeodomain-like		0.517	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIXL1	HGNC	protein_coding	OTTHUMT00000091526.3	C			226413277	+1	no_errors	ENST00000366810	ensembl	human	known	70_37	missense	SNP	0.010	T
KMT2D	8085	genome.wustl.edu	37	12	49420007	49420007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:49420007G>A	ENST00000301067.7	-	48	15741	c.15742C>T	c.(15742-15744)Cag>Tag	p.Q5248*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5248	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCCAGGCCCTGCTCGATGACT	0.542																																																	0													68.0	72.0	70.0					12																	49420007		1927	4130	6057	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15742C>T	12.37:g.49420007G>A	ENSP00000301067:p.Gln5248*	Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q5248*	ENST00000301067.7	37	c.15742	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	56	25.485979	0.99965	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.11	5.11	0.69529	.	0.000000	0.34879	N	0.003619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.2524	0.49034	0.086:0.0:0.914:0.0	.	.	.	.	X	5248	.	ENSP00000301067:Q5248X	Q	-	1	0	MLL2	47706274	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.061000	0.89467	2.560000	0.86352	0.650000	0.86243	CAG	MLL2	-	pfam_FYrich_C,smart_FYrich_C		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49420007	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MOSPD2	158747	genome.wustl.edu	37	X	14934348	14934348	+	Silent	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chrX:14934348C>T	ENST00000380492.3	+	13	1304	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	MOSPD2_ENST00000482354.1_Silent_p.L406L|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	406	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGACCGTTTTCTGATAATGGC	0.423																																																	0													162.0	157.0	159.0					X																	14934348		2203	4300	6503	SO:0001819	synonymous_variant	158747			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1216C>T	X.37:g.14934348C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3H2|Q8NA83	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_Major_sperm,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_Major_sperm	p.L406	ENST00000380492.3	37	c.1216	CCDS14162.1	X																																																																																			MOSPD2	-	pfam_Major_sperm,superfamily_PapD-like,pfscan_Major_sperm		0.423	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	C	NM_152581		14934348	+1	no_errors	ENST00000380492	ensembl	human	known	70_37	silent	SNP	1.000	T
MTSS1L	92154	genome.wustl.edu	37	16	70697638	70697638	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr16:70697638C>T	ENST00000338779.6	-	15	2460	c.2186G>A	c.(2185-2187)cGt>cAt	p.R729H	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	729	WH2.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCGGACCCCACGCCGGATGGC	0.721																																																	0													4.0	5.0	5.0					16																	70697638		2028	4031	6059	SO:0001583	missense	92154				CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.2186G>A	16.37:g.70697638C>T	ENSP00000341171:p.Arg729His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJI7|Q9BUA8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD	p.R729H	ENST00000338779.6	37	c.2186	CCDS32476.1	16	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900248	0.92035	.	.	ENSG00000132613	ENST00000338779	T	0.52983	0.64	4.08	4.08	0.47627	.	0.000000	0.85682	U	0.000000	T	0.67221	0.2870	M	0.71206	2.165	0.40905	D	0.984189	D	0.89917	1.0	D	0.91635	0.999	T	0.73751	-0.3884	10	0.87932	D	0	-11.5948	15.0654	0.71989	0.0:1.0:0.0:0.0	.	729	Q765P7	MTSSL_HUMAN	H	729	ENSP00000341171:R729H	ENSP00000341171:R729H	R	-	2	0	MTSS1L	69255139	1.000000	0.71417	0.971000	0.41717	0.943000	0.58893	5.949000	0.70257	1.804000	0.52760	0.561000	0.74099	CGT	MTSS1L	-	NULL		0.721	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1L	HGNC	protein_coding	OTTHUMT00000434927.3	C	NM_138383		70697638	-1	no_errors	ENST00000338779	ensembl	human	known	70_37	missense	SNP	0.966	T
MUC19	283463	genome.wustl.edu	37	12	40925086	40925086	+	3'UTR	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:40925086C>T	ENST00000474954.1	+	0	3356				MUC19_ENST00000454784.4_Intron			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						AGGCTGAGGCCTGGGGCTCTC	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	283463			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000474954.1:c.*3353C>T	12.37:g.40925086C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NA85	RNA	SNP	-	NULL	ENST00000474954.1	37	NULL		12																																																																																			MUC19	-	-		0.537	MUC19-006	KNOWN	basic	processed_transcript	MUC19	HGNC	protein_coding	OTTHUMT00000134360.1	C	XM_003403524		40925086	+1	no_errors	ENST00000474954	ensembl	human	known	70_37	rna	SNP	0.019	T
MUC2	4583	genome.wustl.edu	37	11	1090951	1090952	+	In_Frame_Ins	INS	-	-	ACC	rs72655327|rs72655328		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:1090951_1090952insACC	ENST00000441003.2	+	28	3873_3874	c.3846_3847insACC	c.(3847-3849)acc>ACCacc	p.1283_1283T>TT	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_5'Flank|MUC2_ENST00000359061.5_In_Frame_Ins_p.1284_1284T>TT	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1283					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccttcaccactaccaccaccac	0.614																																																	0																																										SO:0001652	inframe_insertion	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3862_3864dupACC	11.37:g.1090958_1090960dupACC	ENSP00000415183:p.Thr1288dup	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14878	In_Frame_Ins	INS	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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.1286in_frame_insT	ENST00000441003.2	37	c.3846_3847		11																																																																																			MUC2	-	NULL		0.614	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	NM_002457		1090952	+1	no_errors	ENST00000441003	ensembl	human	known	70_37	in_frame_ins	INS	0.000:0.000	ACC
MYCN	4613	genome.wustl.edu	37	2	16086128	16086128	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:16086128C>T	ENST00000281043.3	+	3	1601	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	435	Leucine-zipper.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TCCCTCCAGGCCGAGGAGCAC	0.517			A		neuroblastoma																																			Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	0													113.0	127.0	122.0					2																	16086128		2203	4300	6503	SO:0001583	missense	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1304C>T	2.37:g.16086128C>T	ENSP00000281043:p.Ala435Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XS5|Q6LDT9	Missense_Mutation	SNP	pfam_Tscrpt_reg_Myc_N,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc	p.A435V	ENST00000281043.3	37	c.1304	CCDS1687.1	2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756443	0.49362	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.88509	-2.39	5.08	4.17	0.49024	Helix-loop-helix DNA-binding (3);	0.169851	0.52532	D	0.000073	D	0.86146	0.5863	L	0.58810	1.83	0.46458	D	0.999055	B	0.33549	0.417	B	0.30105	0.111	D	0.84469	0.0598	10	0.39692	T	0.17	-25.5836	15.5913	0.76530	0.0:0.8617:0.1383:0.0	.	435	P04198	MYCN_HUMAN	V	435;353	ENSP00000281043:A435V	ENSP00000281043:A435V	A	+	2	0	MYCN	16003579	0.998000	0.40836	0.997000	0.53966	0.987000	0.75469	3.931000	0.56529	1.235000	0.43724	0.609000	0.83330	GCC	MYCN	-	superfamily_HLH_dom,smart_HLH_dom		0.517	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCN	HGNC	protein_coding	OTTHUMT00000095469.2	C	NM_005378		16086128	+1	no_errors	ENST00000281043	ensembl	human	known	70_37	missense	SNP	0.995	T
MYLK	4638	genome.wustl.edu	37	3	123348514	123348514	+	Intron	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:123348514G>T	ENST00000475616.1	-	27	4961				MYLK_ENST00000360304.3_Intron|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000359169.1_Intron|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase						actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGCTAGGAGAGGGCGCGACGA	0.592																																																	0													78.0	64.0	69.0					3																	123348514		2203	4300	6503	SO:0001627	intron_variant	100506826			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4962-41C>A	3.37:g.123348514G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	RNA	SNP	-	NULL	ENST00000475616.1	37	NULL	CCDS46896.1	3																																																																																			MYLK-AS1	-	-		0.592	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK-AS1	HGNC	protein_coding	OTTHUMT00000356464.1	G	NM_053025		123348514	+1	no_errors	ENST00000463408	ensembl	human	known	70_37	rna	SNP	0.000	T
NAA40	79829	genome.wustl.edu	37	11	63721865	63721865	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:63721865T>C	ENST00000377793.4	+	8	729	c.628T>C	c.(628-630)Tcc>Ccc	p.S210P	NAA40_ENST00000456907.2_Missense_Mutation_p.S170P|NAA40_ENST00000539656.1_Missense_Mutation_p.S97P|NAA40_ENST00000542163.1_Missense_Mutation_p.S189P	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	210	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GGAGGATTGCTCCTATGAGAT	0.582																																																	0													68.0	61.0	64.0					11																	63721865		2201	4297	6498	SO:0001583	missense	79829			AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.628T>C	11.37:g.63721865T>C	ENSP00000367024:p.Ser210Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S210P	ENST00000377793.4	37	c.628	CCDS8053.1	11	.	.	.	.	.	.	.	.	.	.	T	14.19	2.462378	0.43736	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	.	.	.	4.95	2.51	0.30379	GCN5-related N-acetyltransferase (GNAT) domain (1);	0.053994	0.85682	D	0.000000	T	0.23886	0.0578	L	0.27053	0.805	0.51012	D	0.999908	B;P	0.44578	0.0;0.838	B;B	0.35413	0.0;0.202	T	0.03493	-1.1031	9	0.30078	T	0.28	-2.9198	2.8208	0.05470	0.1425:0.0815:0.1478:0.6281	.	170;210	B4DU10;Q86UY6	.;NAA40_HUMAN	P	210;170;97;189	.	ENSP00000367024:S210P	S	+	1	0	NAA40	63478441	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.592000	0.61027	0.919000	0.36945	0.454000	0.30748	TCC	NAA40	-	pfscan_GNAT_dom		0.582	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA40	HGNC	protein_coding	OTTHUMT00000396266.1	T	NM_024771		63721865	+1	no_errors	ENST00000377793	ensembl	human	known	70_37	missense	SNP	1.000	C
NBEA	26960	genome.wustl.edu	37	13	35692417	35692417	+	Missense_Mutation	SNP	C	C	T	rs371995725		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr13:35692417C>T	ENST00000400445.3	+	15	2669	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	NBEA_ENST00000310336.4_Missense_Mutation_p.T712M|NBEA_ENST00000379939.2_Missense_Mutation_p.T712M|NBEA_ENST00000540320.1_Missense_Mutation_p.T712M	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	712					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACCTACTTACGATGCATGAG	0.274																																																	0								C	MET/THR	1,3583		0,1,1791	46.0	42.0	43.0		2135	4.3	1.0	13		43	0,8122		0,0,4061	no	missense	NBEA	NM_015678.4	81	0,1,5852	TT,TC,CC		0.0,0.0279,0.0085	probably-damaging	712/2947	35692417	1,11705	1792	4061	5853	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2135C>T	13.37:g.35692417C>T	ENSP00000383295:p.Thr712Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.T712M	ENST00000400445.3	37	c.2135	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891986	0.72524	2.79E-4	0.0	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77895	-0.2417	10	0.72032	D	0.01	.	16.7133	0.85391	0.0:1.0:0.0:0.0	.	712	Q5T321	.	M	712	ENSP00000440951:T712M;ENSP00000383295:T712M;ENSP00000369271:T712M;ENSP00000308534:T712M	ENSP00000308534:T712M	T	+	2	0	NBEA	34590417	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.345000	0.79337	1.929000	0.55896	0.460000	0.39030	ACG	NBEA	-	superfamily_ARM-type_fold		0.274	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		35692417	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	1.000	T
NEMF	9147	genome.wustl.edu	37	14	50287076	50287076	+	Intron	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr14:50287076C>T	ENST00000298310.5	-	17	2027				NEMF_ENST00000545773.1_Intron|NEMF_ENST00000556925.1_Intron|NEMF_ENST00000546046.1_Intron			O60524	NEMF_HUMAN	nuclear export mediator factor						nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GAGTTTGGTGCCATGACAGAG	0.428																																																	0																																										SO:0001627	intron_variant	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1578-5501G>A	14.37:g.50287076C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	RNA	SNP	-	NULL	ENST00000298310.5	37	NULL	CCDS9694.1	14																																																																																			NEMF	-	-		0.428	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50287076	-1	no_errors	ENST00000555878	ensembl	human	known	70_37	rna	SNP	0.296	T
NOL9	79707	genome.wustl.edu	37	1	6586866	6586866	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:6586866C>G	ENST00000377705.5	-	11	1881	c.1849G>C	c.(1849-1851)Gag>Cag	p.E617Q		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	617					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCGCTTCTCCATGTCAATG	0.488																																																	0													125.0	113.0	117.0					1																	6586866		2203	4300	6503	SO:0001583	missense	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1849G>C	1.37:g.6586866C>G	ENSP00000366934:p.Glu617Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1	p.E617Q	ENST00000377705.5	37	c.1849	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967774	0.74131	.	.	ENSG00000162408	ENST00000377705	T	0.47528	0.84	5.1	5.1	0.69264	Pre-mRNA cleavage complex II Clp1 (1);	0.227120	0.36972	N	0.002320	T	0.58481	0.2125	L	0.46157	1.445	0.43798	D	0.996348	D	0.64830	0.994	D	0.63703	0.917	T	0.55736	-0.8094	10	0.38643	T	0.18	-23.6939	14.0243	0.64575	0.0:1.0:0.0:0.0	.	617	Q5SY16	NOL9_HUMAN	Q	617	ENSP00000366934:E617Q	ENSP00000366934:E617Q	E	-	1	0	NOL9	6509453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.902000	0.69869	2.381000	0.81170	0.462000	0.41574	GAG	NOL9	-	pfam_Pre-mRNA_cleavage_cplxII_Clp1		0.488	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	HGNC	protein_coding	OTTHUMT00000002625.1	C	NM_024654		6586866	-1	no_errors	ENST00000377705	ensembl	human	known	70_37	missense	SNP	1.000	G
OR5AR1	219493	genome.wustl.edu	37	11	56432011	56432011	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:56432011A>G	ENST00000302969.2	+	1	874	c.850A>G	c.(850-852)Atg>Gtg	p.M284V		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M284L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TATCATCCCCATGTTAAATCC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											68.0	66.0	66.0					11																	56432011		2201	4296	6497	SO:0001583	missense	219493			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.850A>G	11.37:g.56432011A>G	ENSP00000302639:p.Met284Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M284V	ENST00000302969.2	37	c.850	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792587	0.31685	.	.	ENSG00000172459	ENST00000302969	T	0.36878	1.23	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.34193	0.0889	M	0.71206	2.165	0.09310	N	1	B	0.26744	0.158	B	0.20767	0.031	T	0.40175	-0.9577	10	0.66056	D	0.02	.	6.4353	0.21819	0.7589:0.1588:0.0823:0.0	.	284	Q8NGP9	O5AR1_HUMAN	V	284	ENSP00000302639:M284V	ENSP00000302639:M284V	M	+	1	0	OR5AR1	56188587	0.001000	0.12720	1.000000	0.80357	0.868000	0.49771	0.510000	0.22723	2.128000	0.65567	0.467000	0.42956	ATG	OR5AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.408	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	A	NM_001004730		56432011	+1	no_errors	ENST00000302969	ensembl	human	known	70_37	missense	SNP	0.124	G
OR4D6	219983	genome.wustl.edu	37	11	59225108	59225108	+	Silent	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:59225108G>A	ENST00000300127.2	+	1	698	c.675G>A	c.(673-675)ctG>ctA	p.L225L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGTGATGCTGAGATCCCACT	0.547																																																	0													127.0	110.0	116.0					11																	59225108		2201	4295	6496	SO:0001819	synonymous_variant	219983			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.675G>A	11.37:g.59225108G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNP7|Q6IFF5|Q96R74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L225	ENST00000300127.2	37	c.675	CCDS31562.1	11																																																																																			OR4D6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D6	HGNC	protein_coding	OTTHUMT00000394234.1	G	NM_001004708		59225108	+1	no_errors	ENST00000300127	ensembl	human	known	70_37	silent	SNP	0.007	A
OSTCP1	202459	genome.wustl.edu	37	6	159263077	159263077	+	RNA	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:159263077G>T	ENST00000522287.1	-	0	266					NR_028496.1				oligosaccharyltransferase complex subunit pseudogene 1																		CAGTGACGAGGAAGTAAGACA	0.488																																																	0													103.0	95.0	97.0					6																	159263077		2203	4300	6503			202459			BC024224		6q25.3	2011-09-02	2011-09-02	2011-09-02	ENSG00000243775	ENSG00000243775			30530	pseudogene	pseudogene	"""DC2 protein-like"""		"""oligosaccharyltransferase complex subunit-like"""	OSTCL		12477932	Standard	NR_028496		Approved	DC2L	uc003qrw.4		OTTHUMG00000015919		6.37:g.159263077G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000522287.1	37	NULL		6																																																																																			OSTCP1	-	-		0.488	OSTCP1-002	KNOWN	basic	processed_transcript	OSTCP1	HGNC	pseudogene	OTTHUMT00000042884.2	G	NM_145303		159263077	-1	no_errors	ENST00000522287	ensembl	human	known	70_37	rna	SNP	0.992	T
PCDHGB1	56104	genome.wustl.edu	37	5	140730212	140730212	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr5:140730212C>T	ENST00000523390.1	+	1	385	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCACCACGTTTCGTTGC	0.423																																																	0													79.0	79.0	79.0					5																	140730212		1878	4122	6000	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.385C>T	5.37:g.140730212C>T	ENSP00000429273:p.Arg129Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R129C	ENST00000523390.1	37	c.385	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	2.574	-0.299049	0.05532	.	.	ENSG00000254221	ENST00000523390	T	0.21031	2.03	5.36	-2.61	0.06171	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.19967	0.0480	M	0.74467	2.265	0.09310	N	1	B;B	0.16166	0.016;0.008	B;B	0.15484	0.013;0.006	T	0.33904	-0.9850	9	0.45353	T	0.12	.	4.1596	0.10277	0.3245:0.3478:0.0:0.3278	.	129;129	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	C	129	ENSP00000429273:R129C	ENSP00000429273:R129C	R	+	1	0	PCDHGB1	140710396	0.000000	0.05858	0.008000	0.14137	0.117000	0.20001	-2.353000	0.01090	-0.411000	0.07530	-0.251000	0.11542	CGT	PCDHGB1	-	superfamily_Cadherin-like,pfscan_Cadherin		0.423	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	C	NM_018922		140730212	+1	no_errors	ENST00000523390	ensembl	human	known	70_37	missense	SNP	0.000	T
PCNT	5116	genome.wustl.edu	37	21	47845794	47845794	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr21:47845794C>G	ENST00000359568.5	+	33	7336	c.7229C>G	c.(7228-7230)tCa>tGa	p.S2410*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2410					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGGCGCTGTCAGAAGGCCTT	0.607																																																	0													81.0	77.0	78.0					21																	47845794		2203	4300	6503	SO:0001587	stop_gained	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7229C>G	21.37:g.47845794C>G	ENSP00000352572:p.Ser2410*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43152|Q7Z7C9	Nonsense_Mutation	SNP	pfam_PACT_domain	p.S2410*	ENST00000359568.5	37	c.7229	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	C	46	12.366943	0.99661	.	.	ENSG00000160299	ENST00000359568	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	14.6579	0.68847	0.0:1.0:0.0:0.0	.	.	.	.	X	2410	.	ENSP00000352572:S2410X	S	+	2	0	PCNT	46670222	0.996000	0.38824	0.546000	0.28166	0.046000	0.14306	4.201000	0.58439	2.337000	0.79520	0.655000	0.94253	TCA	PCNT	-	NULL		0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	C	NM_006031		47845794	+1	no_errors	ENST00000359568	ensembl	human	known	70_37	nonsense	SNP	0.920	G
PLXNA4	91584	genome.wustl.edu	37	7	131913203	131913203	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr7:131913203G>A	ENST00000359827.3	-	6	2592	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R544W			Q9HCM2	PLXA4_HUMAN	plexin A4	544	PSI 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCTTGGACCGCTCACACCGC	0.602																																																	0													63.0	68.0	66.0					7																	131913203		1991	4171	6162	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1630C>T	7.37:g.131913203G>A	ENSP00000352882:p.Arg544Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R544W	ENST00000359827.3	37	c.1630	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812986	0.70912	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.19938	2.11;2.11	5.79	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71076	-0.4697	10	0.87932	D	0	.	16.1323	0.81449	0.0:0.0:0.6416:0.3584	.	544	Q9HCM2	PLXA4_HUMAN	W	544	ENSP00000323194:R544W;ENSP00000352882:R544W	ENSP00000323194:R544W	R	-	1	2	PLXNA4	131563743	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.646000	0.61411	0.737000	0.32582	0.655000	0.94253	CGG	PLXNA4	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	G	NM_181775		131913203	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	missense	SNP	1.000	A
PTCHD3	374308	genome.wustl.edu	37	10	27702730	27702730	+	Silent	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:27702730G>T	ENST00000438700.3	-	1	567	c.450C>A	c.(448-450)gcC>gcA	p.A150A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	150					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGCCCAGCGCGGCTGTCAGCA	0.672																																																	0													56.0	65.0	62.0					10																	27702730		2203	4300	6503	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.450C>A	10.37:g.27702730G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	I3L499|Q6ZU28	Silent	SNP	pfam_Patched,pfscan_SSD	p.A150	ENST00000438700.3	37	c.450	CCDS31173.1	10																																																																																			PTCHD3	-	NULL		0.672	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	G	XM_370541		27702730	-1	no_errors	ENST00000438700	ensembl	human	known	70_37	silent	SNP	0.000	T
NPY4R	5540	genome.wustl.edu	37	10	47087829	47087829	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:47087829C>G	ENST00000395716.1	+	2	1131	c.1046C>G	c.(1045-1047)tCg>tGg	p.S349W	NPY4R_ENST00000374312.1_Missense_Mutation_p.S349W			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	349					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CTGGAGGAGTCGGAGCATCTG	0.547																																																	0													122.0	122.0	122.0					10																	47087829		2203	4300	6503	SO:0001583	missense	5540				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.1046C>G	10.37:g.47087829C>G	ENSP00000379066:p.Ser349Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S349W	ENST00000395716.1	37	c.1046	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601192	0.13939	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.39997	1.05;1.05	4.96	-0.886	0.10590	.	1.476590	0.03808	N	0.265505	T	0.43919	0.1269	L	0.51422	1.61	0.09310	N	0.999999	P	0.46706	0.883	P	0.47673	0.554	T	0.37957	-0.9683	10	0.56958	D	0.05	.	5.9021	0.18972	0.4211:0.4055:0.0:0.1733	.	349	P50391	NPY4R_HUMAN	W	349	ENSP00000363431:S349W;ENSP00000379066:S349W	ENSP00000363431:S349W	S	+	2	0	PPYR1	46507835	0.901000	0.30685	0.015000	0.15790	0.018000	0.09664	1.923000	0.40055	-0.261000	0.09405	-0.940000	0.02684	TCG	PPYR1	-	prints_NPY4_rcpt		0.547	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPYR1	HGNC	protein_coding	OTTHUMT00000047837.1	C			47087829	+1	no_errors	ENST00000374312	ensembl	human	known	70_37	missense	SNP	0.047	G
PTPRA	5786	genome.wustl.edu	37	20	2945566	2945566	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr20:2945566G>C	ENST00000216877.6	+	5	533	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000380393.3_Missense_Mutation_p.E45Q|PTPRA_ENST00000356147.3_Missense_Mutation_p.E45Q|PTPRA_ENST00000425918.2_Missense_Mutation_p.E56Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.E45Q|PTPRA_ENST00000399903.2_Missense_Mutation_p.E45Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	45					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACCAGTTAAAGAAGAGGCCAA	0.388																																																	0													103.0	96.0	98.0					20																	2945566		2203	4300	6503	SO:0001583	missense	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.133G>C	20.37:g.2945566G>C	ENSP00000216877:p.Glu45Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E56Q	ENST00000216877.6	37	c.166	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053088	0.36181	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000431048;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	T;T;T;T;T;T;T;T;T	0.51817	3.84;0.81;3.84;3.84;0.69;3.83;3.84;0.72;3.84	4.54	2.54	0.30619	.	0.939771	0.08904	U	0.876794	T	0.31949	0.0813	N	0.19112	0.55	0.80722	D	1	B;B	0.25105	0.072;0.118	B;B	0.23574	0.021;0.047	T	0.04495	-1.0947	10	0.33141	T	0.24	.	7.7489	0.28886	0.201:0.0:0.799:0.0	.	56;45	B7Z2A4;P18433-4	.;.	Q	45;45;45;45;45;45;56;45;45;45	ENSP00000369756:E45Q;ENSP00000414089:E45Q;ENSP00000216877:E45Q;ENSP00000382787:E45Q;ENSP00000390775:E45Q;ENSP00000393553:E56Q;ENSP00000314568:E45Q;ENSP00000394132:E45Q;ENSP00000348468:E45Q	ENSP00000216877:E45Q	E	+	1	0	PTPRA	2893566	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	1.849000	0.39318	0.448000	0.26722	0.650000	0.86243	GAA	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type		0.388	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	G			2945566	+1	no_errors	ENST00000425918	ensembl	human	known	70_37	missense	SNP	0.998	C
PTPRS	5802	genome.wustl.edu	37	19	5265145	5265145	+	Silent	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:5265145G>T	ENST00000587303.1	-	4	541	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	PTPRS_ENST00000353284.2_Silent_p.R148R|PTPRS_ENST00000357368.4_Silent_p.R148R|PTPRS_ENST00000588012.1_Silent_p.R148R|PTPRS_ENST00000372412.4_Silent_p.R148R|PTPRS_ENST00000592099.1_Silent_p.R148R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.R148R|PTPRS_ENST00000348075.2_Silent_p.R148R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	148	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTCCGTGTCCGCTCCACCACC	0.597																																																	0													161.0	120.0	134.0					19																	5265145		2203	4300	6503	SO:0001819	synonymous_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.442C>A	19.37:g.5265145G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.R148	ENST00000587303.1	37	c.442	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.597	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	G			5265145	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	silent	SNP	1.000	T
PVRL2	5819	genome.wustl.edu	37	19	45381604	45381604	+	Intron	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:45381604G>A	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_Silent_p.R389R	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		gggtgaggaggaggaggaaga	0.652																																																	0													38.0	27.0	30.0					19																	45381604		2092	4118	6210	SO:0001627	intron_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3864G>A	19.37:g.45381604G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R389	ENST00000252483.5	37	c.1167	CCDS42576.1	19																																																																																			PVRL2	-	NULL		0.652	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	G	NM_002856		45381604	+1	no_errors	ENST00000252485	ensembl	human	known	70_37	silent	SNP	0.999	A
PVRL2	5819	genome.wustl.edu	37	19	45381610	45381610	+	Intron	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:45381610G>A	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_Silent_p.R391R	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		ggaggaggaggaagagccctg	0.657																																																	0													42.0	30.0	34.0					19																	45381610		2106	4137	6243	SO:0001627	intron_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3858G>A	19.37:g.45381610G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R391	ENST00000252483.5	37	c.1173	CCDS42576.1	19																																																																																			PVRL2	-	NULL		0.657	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	G	NM_002856		45381610	+1	no_errors	ENST00000252485	ensembl	human	known	70_37	silent	SNP	1.000	A
RAB40C	57799	genome.wustl.edu	37	16	676096	676096	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr16:676096G>T	ENST00000248139.3	+	5	743	c.540G>T	c.(538-540)atG>atT	p.M180I	RAB40C_ENST00000535977.1_Missense_Mutation_p.M180I|RAB40C_ENST00000539661.1_Missense_Mutation_p.M180I|RAB40C_ENST00000538492.1_Missense_Mutation_p.M180I	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	180	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GGCACGGCATGGAGAAGATCT	0.637																																					Melanoma(123;1631 1690 28262 44104 44957)												0													78.0	70.0	73.0					16																	676096		2201	4300	6501	SO:0001583	missense	57799			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.540G>T	16.37:g.676096G>T	ENSP00000248139:p.Met180Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M180I	ENST00000248139.3	37	c.540	CCDS10413.1	16	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346031	0.82022	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.22	5.22	0.72569	SOCS protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	L	0.47716	1.5	0.80722	D	1	B;B	0.23442	0.085;0.085	B;B	0.22601	0.022;0.04	T	0.71994	-0.4424	10	0.56958	D	0.05	.	17.7582	0.88456	0.0:0.0:1.0:0.0	.	180;161	Q96S21;Q5PXE8	RB40C_HUMAN;.	I	180	ENSP00000438492:M180I;ENSP00000445050:M180I;ENSP00000438382:M180I;ENSP00000248139:M180I	ENSP00000248139:M180I	M	+	3	0	RAB40C	616097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.747000	0.98863	2.438000	0.82558	0.561000	0.74099	ATG	RAB40C	-	smart_Ran_GTPase,pfscan_SOCS_C		0.637	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40C	HGNC	protein_coding	OTTHUMT00000109079.4	G	NM_021168		676096	+1	no_errors	ENST00000248139	ensembl	human	known	70_37	missense	SNP	1.000	T
RFX8	731220	genome.wustl.edu	37	2	102034125	102034125	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:102034125G>T	ENST00000376826.2	-	9	711	c.712C>A	c.(712-714)Cat>Aat	p.H238N	RFX8_ENST00000428343.1_Missense_Mutation_p.H125N			Q6ZV50	RFX8_HUMAN	RFX family member 8, lacking RFX DNA binding domain	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|stomach(1)	3						AAGAAGTCATGAAGGAGAACA	0.418																																																	0													127.0	116.0	119.0					2																	102034125		692	1591	2283	SO:0001583	missense	731220			AK124976	CCDS46376.1	2q11.2	2012-11-15	2012-11-15		ENSG00000196460	ENSG00000196460			37253	protein-coding gene	gene with protein product			"""regulatory factor X, 8"", ""RFX gene family member 8, lacking RFX DNA binding domain"""				Standard	NM_001145664		Approved	FLJ42986	uc010yvx.1	Q6ZV50	OTTHUMG00000130693	ENST00000376826.2:c.712C>A	2.37:g.102034125G>T	ENSP00000366022:p.His238Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQ32	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.H238N	ENST00000376826.2	37	c.712		2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496419	0.44352	.	.	ENSG00000196460	ENST00000376826;ENST00000428343	T;T	0.76448	-1.02;0.98	5.65	5.65	0.86999	.	.	.	.	.	T	0.64951	0.2645	N	0.14661	0.345	0.22610	N	0.998939	P	0.36535	0.557	B	0.33620	0.167	T	0.63585	-0.6604	9	0.72032	D	0.01	.	15.2764	0.73745	0.0:0.0:1.0:0.0	.	125	Q6ZV50-3	.	N	238;125	ENSP00000366022:H238N;ENSP00000401536:H125N	ENSP00000366022:H238N	H	-	1	0	RFX8	101400557	0.197000	0.23362	0.185000	0.23176	0.941000	0.58515	0.620000	0.24403	2.655000	0.90218	0.650000	0.86243	CAT	RFX8	-	NULL		0.418	RFX8-201	KNOWN	basic|appris_principal	protein_coding	RFX8	HGNC	protein_coding		G	NM_001145664		102034125	-1	no_errors	ENST00000376826	ensembl	human	known	70_37	missense	SNP	0.837	T
RIBC2	26150	genome.wustl.edu	37	22	45810212	45810212	+	5'UTR	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:45810212G>A	ENST00000342894.3	+	0	335				RIBC2_ENST00000538017.1_Missense_Mutation_p.E42K|SMC1B_ENST00000404354.3_5'Flank|SMC1B_ENST00000357450.4_5'Flank			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2							nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGGAGACACTGAAGCCTGGGA	0.358																																																	0													132.0	120.0	124.0					22																	45810212		692	1591	2283	SO:0001623	5_prime_UTR_variant	26150			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.-80G>A	22.37:g.45810212G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ICD0|Q9Y413	Missense_Mutation	SNP	pfam_RIB43A	p.E42K	ENST00000342894.3	37	c.124		22	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122702	0.20877	.	.	ENSG00000128408	ENST00000538017	T	0.24908	1.83	4.99	-4.06	0.03986	.	.	.	.	.	T	0.13072	0.0317	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37641	-0.9697	6	0.19590	T	0.45	.	6.1614	0.20366	0.3354:0.2906:0.374:0.0	.	.	.	.	K	42	ENSP00000444196:E42K	ENSP00000444196:E42K	E	+	1	0	RIBC2	44188876	0.007000	0.16637	0.008000	0.14137	0.374000	0.29953	0.078000	0.14761	-0.560000	0.06102	0.484000	0.47621	GAA	RIBC2	-	pfam_RIB43A		0.358	RIBC2-001	KNOWN	basic	protein_coding	RIBC2	HGNC	protein_coding	OTTHUMT00000322250.1	G	NM_015653		45810212	+1	no_errors	ENST00000538017	ensembl	human	known	70_37	missense	SNP	0.000	A
RPL22P19	644022	genome.wustl.edu	37	12	125420292	125420292	+	RNA	SNP	C	C	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:125420292C>G	ENST00000480427.1	-	0	149									ribosomal protein L22 pseudogene 19																		AAAAACTGCTCAAAGTTGGCA	0.478																																																	0																																												644022					12q24.31	2009-03-11				ENSG00000241129			36567	pseudogene	pseudogene						19123937	Standard	NG_010946		Approved						12.37:g.125420292C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000480427.1	37	NULL		12																																																																																			RPL22P19	-	-		0.478	RPL22P19-002	KNOWN	basic	processed_transcript	RPL22P19	HGNC	pseudogene	OTTHUMT00000351190.1	C	NG_010946		125420292	-1	no_errors	ENST00000480427	ensembl	human	known	70_37	rna	SNP	1.000	G
RRNAD1	51093	genome.wustl.edu	37	1	156706681	156706681	+	3'UTR	SNP	C	C	T	rs371732973|rs150264626	byFrequency	TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:156706681C>T	ENST00000368216.4	+	0	2194				RRNAD1_ENST00000368218.4_3'UTR|MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000481920.1_3'UTR|RRNAD1_ENST00000476229.1_3'UTR	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1							integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TCCCCTTTCTCTCCTTCCATG	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	51093			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.*136C>T	1.37:g.156706681C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVC7|Q4VX71|Q5SZ03|Q9Y358	RNA	SNP	-	NULL	ENST00000368216.4	37	NULL	CCDS1154.1	1																																																																																			RRNAD1	-	-		0.413	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRNAD1	HGNC	protein_coding	OTTHUMT00000098973.1	C	NM_015997		156706681	+1	no_errors	ENST00000481920	ensembl	human	putative	70_37	rna	SNP	0.001	T
RRP12	23223	genome.wustl.edu	37	10	99129987	99129987	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:99129987C>A	ENST00000370992.4	-	24	2845	c.2734G>T	c.(2734-2736)Ggc>Tgc	p.G912C	RRP12_ENST00000315563.6_Missense_Mutation_p.G812C|RRP12_ENST00000536831.1_Missense_Mutation_p.G630C|RRP12_ENST00000414986.1_Missense_Mutation_p.G851C|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	912						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GTCACCGCGCCCACCAGGCCA	0.592																																																	0													30.0	28.0	29.0					10																	99129987		2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2734G>T	10.37:g.99129987C>A	ENSP00000360031:p.Gly912Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.G912C	ENST00000370992.4	37	c.2734	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081378	0.76528	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.993	D	0.85850	0.1403	10	0.87932	D	0	-25.5587	12.8535	0.57871	0.0:0.9213:0.0:0.0787	.	851;812;630;912	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	C	912;812;851;630	ENSP00000360031:G912C;ENSP00000324315:G812C;ENSP00000414863:G851C;ENSP00000446184:G630C	ENSP00000324315:G812C	G	-	1	0	RRP12	99119977	1.000000	0.71417	0.996000	0.52242	0.868000	0.49771	5.531000	0.67148	2.357000	0.79964	0.462000	0.41574	GGC	RRP12	-	superfamily_ARM-type_fold		0.592	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	C	NM_015179		99129987	-1	no_errors	ENST00000370992	ensembl	human	known	70_37	missense	SNP	1.000	A
RTL1	388015	genome.wustl.edu	37	14	101350763	101350763	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr14:101350763C>T	ENST00000534062.1	-	1	421	c.363G>A	c.(361-363)atG>atA	p.M121I	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	121					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						ATGCTTCTTTCATCCTATCAG	0.537																																																	0													100.0	82.0	88.0					14																	101350763		692	1591	2283	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.363G>A	14.37:g.101350763C>T	ENSP00000435342:p.Met121Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.M121I	ENST00000534062.1	37	c.363	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973941	0.34848	.	.	ENSG00000254656	ENST00000534062	T	0.21932	1.98	3.54	2.63	0.31362	.	.	.	.	.	T	0.11879	0.0289	N	0.14661	0.345	0.09310	N	1	B	0.22003	0.063	B	0.14023	0.01	T	0.20174	-1.0283	9	0.52906	T	0.07	.	7.2276	0.26024	0.0:0.8755:0.0:0.1245	.	121	E9PKS8	.	I	121	ENSP00000435342:M121I	ENSP00000435342:M121I	M	-	3	0	RTL1	100420516	0.000000	0.05858	0.001000	0.08648	0.314000	0.28054	0.231000	0.17872	1.045000	0.40225	0.561000	0.74099	ATG	RTL1	-	NULL		0.537	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	C	NM_001134888		101350763	-1	no_errors	ENST00000534062	ensembl	human	known	70_37	missense	SNP	0.001	T
SCAF4	57466	genome.wustl.edu	37	21	33060778	33060778	+	Splice_Site	SNP	C	C	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr21:33060778C>A	ENST00000286835.7	-	16	2268		c.e16-1		SCAF4_ENST00000434667.3_Splice_Site|SCAF4_ENST00000399804.1_Splice_Site	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4							nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCTTTCCAATCTGTGAGCGTG	0.348																																																	0													160.0	157.0	158.0					21																	33060778		2203	4300	6503	SO:0001630	splice_region_variant	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1886-1G>T	21.37:g.33060778C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Splice_Site	SNP	-	e16-1	ENST00000286835.7	37	c.1886-1	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874105	0.72180	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6197	0.88077	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCAF4	31982649	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.317000	0.65822	2.678000	0.91216	0.655000	0.94253	.	SCAF4	-	-		0.348	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	C	XM_047889	Intron	33060778	-1	no_errors	ENST00000286835	ensembl	human	known	70_37	splice_site	SNP	1.000	A
SCOC	60592	genome.wustl.edu	37	4	141264834	141264834	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr4:141264834C>G	ENST00000394205.3	+	2	185	c.42C>G	c.(40-42)ttC>ttG	p.F14L	SCOC_ENST00000506322.1_5'UTR|SCOC_ENST00000394203.3_Missense_Mutation_p.F14L|RP11-425I13.3_ENST00000512692.2_RNA|SCOC_ENST00000338517.4_Missense_Mutation_p.F14L	NM_032547.2	NP_115936.2	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	0					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					ACAGCACATTCACCAACATTT	0.373																																																	0													118.0	106.0	110.0					4																	141264834		2203	4300	6503	SO:0001583	missense	60592			AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"""short coiled coil protein"""			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000394205.3:c.42C>G	4.37:g.141264834C>G	ENSP00000377755:p.Phe14Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	pfam_DUF2205_coiled-coil	p.F14L	ENST00000394205.3	37	c.42	CCDS3750.1	4	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027763	0.54790	.	.	ENSG00000153130	ENST00000394205;ENST00000338517;ENST00000394203	.	.	.	5.62	4.76	0.60689	.	.	.	.	.	T	0.42810	0.1219	.	.	.	0.46061	D	0.998849	B;B	0.23128	0.08;0.08	B;B	0.20955	0.032;0.032	T	0.20438	-1.0275	7	0.25106	T	0.35	.	10.5711	0.45200	0.0:0.912:0.0:0.088	.	14;14	Q9UIL1-3;Q9UIL1-2	.;.	L	14	.	ENSP00000345262:F14L	F	+	3	2	SCOC	141484284	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.309000	0.33539	2.927000	0.99377	0.637000	0.83480	TTC	SCOC	-	NULL		0.373	SCOC-003	KNOWN	basic|CCDS	protein_coding	SCOC	HGNC	protein_coding	OTTHUMT00000257276.2	C			141264834	+1	no_errors	ENST00000338517	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC17A8	246213	genome.wustl.edu	37	12	100787237	100787237	+	Silent	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr12:100787237C>T	ENST00000323346.5	+	4	877	c.564C>T	c.(562-564)gtC>gtT	p.V188V	SLC17A8_ENST00000392989.3_Silent_p.V188V	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	188					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCATGTGTGTCAGAATTCTGC	0.453																																																	0													201.0	174.0	183.0					12																	100787237		2203	4300	6503	SO:0001819	synonymous_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.564C>T	12.37:g.100787237C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V188	ENST00000323346.5	37	c.564	CCDS9077.1	12																																																																																			SLC17A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.453	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	C	NM_139319		100787237	+1	no_errors	ENST00000323346	ensembl	human	known	70_37	silent	SNP	0.397	T
SGSH	6448	genome.wustl.edu	37	17	78196495	78196495	+	5'Flank	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr17:78196495C>T	ENST00000326317.6	-	0	0				SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Silent_p.F92F|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000546047.2_Silent_p.F92F|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000361193.3_Silent_p.F92F|SLC26A11_ENST00000411502.3_Silent_p.F92F|SGSH_ENST00000572208.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGTGTATTTCTTCCTGGGCA	0.612																																																	0													222.0	167.0	186.0					17																	78196495		2203	4300	6503	SO:0001631	upstream_gene_variant	284129			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196495C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E2	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.F92	ENST00000326317.6	37	c.276	CCDS11770.1	17																																																																																			SLC26A11	-	NULL		0.612	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000437695.1	C	NM_000199		78196495	+1	no_errors	ENST00000361193	ensembl	human	known	70_37	silent	SNP	1.000	T
SGSH	6448	genome.wustl.edu	37	17	78196636	78196636	+	5'Flank	SNP	C	C	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr17:78196636C>G	ENST00000326317.6	-	0	0				SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Silent_p.V139V|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000546047.2_Silent_p.V139V|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000361193.3_Silent_p.V139V|SLC26A11_ENST00000411502.3_Silent_p.V139V|SGSH_ENST00000572208.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCATGGGGGTCCTGCGTTTGG	0.582																																																	0													112.0	97.0	102.0					17																	78196636		2203	4300	6503	SO:0001631	upstream_gene_variant	284129			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196636C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E2	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.V139	ENST00000326317.6	37	c.417	CCDS11770.1	17																																																																																			SLC26A11	-	pfam_Sulph_transpt		0.582	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000437695.1	C	NM_000199		78196636	+1	no_errors	ENST00000361193	ensembl	human	known	70_37	silent	SNP	1.000	G
SMPD2	6610	genome.wustl.edu	37	6	109762559	109762559	+	Splice_Site	DEL	G	G	-			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:109762559delG	ENST00000258052.3	+	2	409		c.e2-1		PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)						apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CCCTTCCTTAGGGGCATTCCG	0.632																																																	0													45.0	51.0	49.0					6																	109762559		2203	4300	6503	SO:0001630	splice_region_variant	6610			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.51-1G>-	6.37:g.109762559delG		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TED1|Q9BWR3	Splice_Site	DEL	-	e2-1	ENST00000258052.3	37	c.51-1	CCDS5075.1	6																																																																																			SMPD2	-	-		0.632	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	HGNC	protein_coding	OTTHUMT00000041755.1	G		Intron	109762559	+1	no_errors	ENST00000258052	ensembl	human	known	70_37	splice_site_del	DEL	1.000	-
SMTN	6525	genome.wustl.edu	37	22	31484486	31484486	+	Intron	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:31484486G>A	ENST00000347557.2	+	4	418				SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000333137.7_Intron|SMTN_ENST00000358743.1_Intron	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TTACAGTCATGATGTCTCTGC	0.597																																																	0													67.0	70.0	69.0					22																	31484486		2203	4300	6503	SO:0001627	intron_variant	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.201-13G>A	22.37:g.31484486G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	RNA	SNP	-	NULL	ENST00000347557.2	37	NULL	CCDS13886.1	22																																																																																			SMTN	-	-		0.597	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	G	NM_134270		31484486	+1	no_errors	ENST00000475548	ensembl	human	known	70_37	rna	SNP	0.044	A
SYTL3	94120	genome.wustl.edu	37	6	159183155	159183155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:159183155G>T	ENST00000297239.9	+	15	1656	c.1462G>T	c.(1462-1464)Gga>Tga	p.G488*	SYTL3_ENST00000367081.3_Nonsense_Mutation_p.G214*|MIR3918_ENST00000581555.1_RNA|SYTL3_ENST00000360448.3_Nonsense_Mutation_p.G420*			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	488	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GGTAGTGCTAGGAGCCAAGAA	0.423																																																	0													241.0	188.0	206.0					6																	159183155		2203	4300	6503	SO:0001587	stop_gained	94120			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1462G>T	6.37:g.159183155G>T	ENSP00000297239:p.Gly488*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q496J4|Q496J6|Q5U3B9	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.G488*	ENST00000297239.9	37	c.1462	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.227673	0.98714	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	.	.	.	5.02	4.15	0.48705	.	0.114382	0.38720	N	0.001599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	14.7056	0.69189	0.0:0.1448:0.8552:0.0	.	.	.	.	X	420;488;488;214	.	ENSP00000297239:G488X	G	+	1	0	SYTL3	159103143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.579000	0.60936	1.439000	0.47511	0.655000	0.94253	GGA	SYTL3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.423	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1	G			159183155	+1	no_errors	ENST00000297239	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TAF1C	9013	genome.wustl.edu	37	16	84213391	84213391	+	Missense_Mutation	SNP	G	G	A	rs371382879		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr16:84213391G>A	ENST00000567759.1	-	14	1948	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	TAF1C_ENST00000341690.6_Missense_Mutation_p.S495L|TAF1C_ENST00000541676.1_Missense_Mutation_p.S496L|TAF1C_ENST00000378541.4_Missense_Mutation_p.S589L|TAF1C_ENST00000566732.1_Missense_Mutation_p.S563L|TAF1C_ENST00000570117.1_Missense_Mutation_p.S257L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	589					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCCCGCCGCCGAGAGCTGGAA	0.667																																																	0								G	LEU/SER,LEU/SER	0,3902		0,0,1951	7.0	9.0	8.0		1766,1484	4.6	0.8	16		8	1,7671		0,1,3835	no	missense,missense	TAF1C	NM_005679.3,NM_139353.2	145,145	0,1,5786	AA,AG,GG		0.013,0.0,0.0086	probably-damaging,probably-damaging	589/870,495/776	84213391	1,11573	1951	3836	5787	SO:0001583	missense	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1766C>T	16.37:g.84213391G>A	ENSP00000455265:p.Ser589Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.S589L	ENST00000567759.1	37	c.1766	CCDS32496.1	16	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338605	0.60963	0.0	1.3E-4	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.09350	3.28;2.99;2.99	4.61	4.61	0.57282	.	0.253026	0.26503	N	0.024003	T	0.31199	0.0789	M	0.70595	2.14	0.37835	D	0.928852	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.83275	0.995;0.995;0.996;0.986	T	0.18429	-1.0337	10	0.87932	D	0	-9.82	12.9169	0.58211	0.0:0.0:1.0:0.0	.	563;112;589;495	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	L	589;496;495;112	ENSP00000367802:S589L;ENSP00000437900:S496L;ENSP00000345305:S495L	ENSP00000345305:S495L	S	-	2	0	TAF1C	82770892	1.000000	0.71417	0.834000	0.33040	0.092000	0.18411	5.917000	0.69989	2.103000	0.63969	0.462000	0.41574	TCG	TAF1C	-	NULL		0.667	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2	G	NM_139353		84213391	-1	no_errors	ENST00000378541	ensembl	human	known	70_37	missense	SNP	0.975	A
TCHH	7062	genome.wustl.edu	37	1	152080039	152080039	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr1:152080039A>G	ENST00000368804.1	-	2	5653	c.5654T>C	c.(5653-5655)aTc>aCc	p.I1885T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1885	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCGGCGGATGTGTTCTTC	0.572																																																	0													166.0	168.0	167.0					1																	152080039		2049	4184	6233	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5654T>C	1.37:g.152080039A>G	ENSP00000357794:p.Ile1885Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.I1885T	ENST00000368804.1	37	c.5654	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	a	0.180	-1.063221	0.01950	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	3.17	3.17	0.36434	.	.	.	.	.	T	0.01254	0.0041	N	0.19112	0.55	0.09310	N	1	B	0.28470	0.213	B	0.21151	0.033	T	0.46062	-0.9218	9	0.18710	T	0.47	0.1316	9.4137	0.38507	1.0:0.0:0.0:0.0	.	1885	Q07283	TRHY_HUMAN	T	1885	ENSP00000357794:I1885T	ENSP00000357794:I1885T	I	-	2	0	TCHH	150346663	0.294000	0.24380	0.633000	0.29310	0.024000	0.10985	0.113000	0.15499	1.315000	0.45114	0.255000	0.18592	ATC	TCHH	-	NULL		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	A	NM_007113		152080039	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.198	G
TENM1	10178	genome.wustl.edu	37	X	123680777	123680777	+	Silent	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chrX:123680777G>A	ENST00000371130.3	-	15	2661	c.2598C>T	c.(2596-2598)ctC>ctT	p.L866L	TENM1_ENST00000422452.2_Silent_p.L866L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	866					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCTTGCCAATGAGGAATTTGA	0.408																																																	0													127.0	116.0	120.0					X																	123680777		2203	4300	6503	SO:0001819	synonymous_variant	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2598C>T	X.37:g.123680777G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.L866	ENST00000371130.3	37	c.2598	CCDS14609.1	X																																																																																			TENM1	-	NULL		0.408	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123680777	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	silent	SNP	1.000	A
TENM2	57451	genome.wustl.edu	37	5	167642273	167642273	+	Silent	SNP	G	G	A	rs374089694		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr5:167642273G>A	ENST00000518659.1	+	21	4113	c.4074G>A	c.(4072-4074)ccG>ccA	p.P1358P	TENM2_ENST00000520394.1_Silent_p.P1119P|TENM2_ENST00000545108.1_Silent_p.P1357P|TENM2_ENST00000403607.2_Silent_p.P1182P|TENM2_ENST00000519204.1_Silent_p.P1237P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1358					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGATGAGCCCGAGAGGTAAAG	0.537																																																	0								A		0,3900		0,0,1950	68.0	73.0	71.0		4047	-9.8	0.0	5		71	1,8309		0,1,4154	no	coding-synonymous	ODZ2	NM_001122679.1		0,1,6104	AA,AG,GG		0.012,0.0,0.0082		1349/2766	167642273	1,12209	1950	4155	6105	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4074G>A	5.37:g.167642273G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P1358	ENST00000518659.1	37	c.4074		5																																																																																			TENM2	-	superfamily_ConA-like_lec_gl_sf		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167642273	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	silent	SNP	0.000	A
TGFBR2	7048	genome.wustl.edu	37	3	30713254	30713254	+	Silent	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr3:30713254G>A	ENST00000295754.5	+	4	961	c.579G>A	c.(577-579)cgG>cgA	p.R193R	TGFBR2_ENST00000359013.4_Silent_p.R218R	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	193					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GCGTTAACCGGCAGCAGAAGC	0.527																																																	0													70.0	61.0	64.0					3																	30713254		2203	4300	6503	SO:0001819	synonymous_variant	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.579G>A	3.37:g.30713254G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	pfam_Transforming_GF_b_rcpt_2_ecto,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,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.R218	ENST00000295754.5	37	c.654	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2		0.527	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	G			30713254	+1	no_errors	ENST00000359013	ensembl	human	known	70_37	silent	SNP	1.000	A
TIGD7	91151	genome.wustl.edu	37	16	3349798	3349798	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr16:3349798C>T	ENST00000396862.1	-	2	2645	c.817G>A	c.(817-819)Gag>Aag	p.E273K	TIGD7_ENST00000268674.2_Missense_Mutation_p.E273K|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	273	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E273K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGTCGGACCTCaggaacaaag	0.408																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											74.0	78.0	77.0					16																	3349798		2197	4300	6497	SO:0001583	missense	91151			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.817G>A	16.37:g.3349798C>T	ENSP00000380071:p.Glu273Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E273K	ENST00000396862.1	37	c.817	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462936	0.63513	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.39997	1.05;1.05	4.62	4.62	0.57501	.	0.000000	0.42682	U	0.000677	T	0.55940	0.1952	M	0.62723	1.935	0.29381	N	0.863336	D	0.69078	0.997	D	0.79108	0.992	T	0.51387	-0.8712	10	0.10377	T	0.69	.	12.955	0.58421	0.0:1.0:0.0:0.0	.	273	Q6NT04	TIGD7_HUMAN	K	273	ENSP00000380071:E273K;ENSP00000268674:E273K	ENSP00000268674:E273K	E	-	1	0	TIGD7	3289799	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.188000	0.50958	2.116000	0.64780	0.655000	0.94253	GAG	TIGD7	-	pfam_DDE_SF_endonuclease_CENPB-like		0.408	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	C	NM_033208		3349798	-1	no_errors	ENST00000268674	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM177	80775	genome.wustl.edu	37	2	120439094	120439094	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:120439094C>G	ENST00000424086.1	+	2	1138	c.665C>G	c.(664-666)tCt>tGt	p.S222C	TMEM177_ENST00000272521.6_Missense_Mutation_p.S222C|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.S222C|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	222						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TCCCAGGATTCTCTCACTCAT	0.607																																																	0													58.0	58.0	58.0					2																	120439094		2203	4300	6503	SO:0001583	missense	80775			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.665C>G	2.37:g.120439094C>G	ENSP00000402661:p.Ser222Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BT20	Missense_Mutation	SNP	NULL	p.S222C	ENST00000424086.1	37	c.665	CCDS2128.1	2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101779	0.37048	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521	T;T;T	0.37058	1.22;1.22;1.22	4.68	3.78	0.43462	.	0.123221	0.53938	D	0.000047	T	0.54532	0.1864	M	0.70595	2.14	0.42493	D	0.992908	D	0.76494	0.999	D	0.66847	0.947	T	0.58284	-0.7663	10	0.59425	D	0.04	-0.6813	11.4766	0.50302	0.0:0.9033:0.0:0.0967	.	222	Q53S58	TM177_HUMAN	C	222	ENSP00000385966:S222C;ENSP00000402661:S222C;ENSP00000272521:S222C	ENSP00000272521:S222C	S	+	2	0	TMEM177	120155564	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.462000	0.66707	2.333000	0.79357	0.448000	0.29417	TCT	TMEM177	-	NULL		0.607	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM177	HGNC	protein_coding	OTTHUMT00000330673.1	C	NM_030577		120439094	+1	no_errors	ENST00000272521	ensembl	human	known	70_37	missense	SNP	1.000	G
TNXB	7148	genome.wustl.edu	37	6	32026140	32026140	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:32026140G>T	ENST00000375244.3	-	22	7721	c.7520C>A	c.(7519-7521)cCc>cAc	p.P2507H	TNXB_ENST00000375247.2_Missense_Mutation_p.P2507H			P22105	TENX_HUMAN	tenascin XB	2567	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTAGGGCTGGGGGTCTCGTC	0.582																																																	0													19.0	23.0	22.0					6																	32026140		1188	2524	3712	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7520C>A	6.37:g.32026140G>T	ENSP00000364393:p.Pro2507His	Somatic		WXS	Illumina HiSeq	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.P2507H	ENST00000375244.3	37	c.7520		6	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825810	0.32237	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58358	0.54;0.34	4.21	4.21	0.49690	.	0.000000	0.41294	D	0.000917	T	0.21801	0.0525	L	0.29908	0.895	0.26172	N	0.979841	P	0.41569	0.755	B	0.34301	0.179	T	0.11203	-1.0597	10	0.62326	D	0.03	.	11.9769	0.53098	0.0:0.0:1.0:0.0	.	2507	P22105-3	.	H	2507	ENSP00000364393:P2507H;ENSP00000364396:P2507H	ENSP00000364393:P2507H	P	-	2	0	TNXB	32134118	0.885000	0.30320	0.992000	0.48379	0.512000	0.34134	2.878000	0.48515	2.167000	0.68274	0.650000	0.86243	CCC	TNXB	-	NULL		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	G	NM_019105		32026140	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	missense	SNP	0.945	T
TTC3	7267	genome.wustl.edu	37	21	38505018	38505018	+	Silent	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr21:38505018G>A	ENST00000399017.2	+	17	4142	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	TTC3_ENST00000355666.1_Silent_p.K465K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Silent_p.K465K|TTC3_ENST00000540756.1_Silent_p.K155K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	465					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGATTTGAAGAACATCTTGG	0.303																																					Ovarian(38;194 1649 35661)												0													53.0	54.0	54.0					21																	38505018		2203	4299	6502	SO:0001819	synonymous_variant	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1395G>A	21.37:g.38505018G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.K465	ENST00000399017.2	37	c.1395	CCDS13651.1	21																																																																																			TTC3	-	NULL		0.303	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	G			38505018	+1	no_errors	ENST00000354749	ensembl	human	known	70_37	silent	SNP	0.614	A
TTLL1	25809	genome.wustl.edu	37	22	43465794	43465794	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:43465794G>A	ENST00000266254.7	-	4	410	c.170C>T	c.(169-171)tCa>tTa	p.S57L	TTLL1_ENST00000331018.7_Missense_Mutation_p.S57L	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	57	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTGGTCATCTGAGAGCCGATA	0.463																																																	0													159.0	149.0	152.0					22																	43465794		2203	4300	6503	SO:0001583	missense	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.170C>T	22.37:g.43465794G>A	ENSP00000266254:p.Ser57Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S57L	ENST00000266254.7	37	c.170	CCDS14043.1	22	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670123	0.67814	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.05717	3.4;3.64	5.89	5.89	0.94794	.	0.116712	0.64402	D	0.000011	T	0.08714	0.0216	N	0.26042	0.785	0.80722	D	1	B;B	0.23990	0.043;0.095	B;B	0.33121	0.098;0.158	T	0.39761	-0.9598	10	0.33940	T	0.23	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	57;57	O95922-4;O95922	.;TTLL1_HUMAN	L	57	ENSP00000333734:S57L;ENSP00000266254:S57L	ENSP00000266254:S57L	S	-	2	0	TTLL1	41795738	1.000000	0.71417	0.950000	0.38849	0.708000	0.40852	9.467000	0.97671	2.788000	0.95919	0.557000	0.71058	TCA	TTLL1	-	NULL		0.463	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	G	NM_012263		43465794	-1	no_errors	ENST00000266254	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179637802	179637802	+	Intron	SNP	C	C	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:179637802C>G	ENST00000591111.1	-	33	8080				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAATCACTCCTCGTAAGAA	0.358																																																	0													32.0	34.0	33.0					2																	179637802		2201	4293	6494	SO:0001627	intron_variant	100506866			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7855+33G>C	2.37:g.179637802C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	SNP	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			TTN-AS1	-	-		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179637802	+1	no_errors	ENST00000584485	ensembl	human	known	70_37	rna	SNP	0.000	G
UBTF	7343	genome.wustl.edu	37	17	42293273	42293273	+	Splice_Site	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr17:42293273C>T	ENST00000302904.4	-	4	811		c.e4+1		UBTF_ENST00000537550.1_Splice_Site|UBTF_ENST00000529383.1_Splice_Site|UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000533177.1_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Splice_Site			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TAGTAACTCACCTTGAGTTTT	0.458																																																	0													159.0	146.0	151.0					17																	42293273		2203	4300	6503	SO:0001630	splice_region_variant	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.318+1G>A	17.37:g.42293273C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6R8	Splice_Site	SNP	-	e3+1	ENST00000302904.4	37	c.318+1	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591993	0.66219	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5834	0.87974	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBTF	39648799	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	7.755000	0.85180	2.309000	0.77851	0.563000	0.77884	.	UBTF	-	-		0.458	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	C	NM_014233	Intron	42293273	-1	no_errors	ENST00000302904	ensembl	human	known	70_37	splice_site	SNP	1.000	T
UCP2	7351	genome.wustl.edu	37	11	73689365	73689365	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr11:73689365G>T	ENST00000310473.3	-	3	901	c.59C>A	c.(58-60)gCt>gAt	p.A20D	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Missense_Mutation_p.A20D	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	20					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					AGCTGTGCCAGCCCCAAGAAA	0.532																																					Colon(191;388 2040 43557 45622 48925)												0													76.0	74.0	75.0					11																	73689365		2200	4293	6493	SO:0001583	missense	7351			U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.59C>A	11.37:g.73689365G>T	ENSP00000312029:p.Ala20Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4PJH8|Q53HM3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.A20D	ENST00000310473.3	37	c.59	CCDS8228.1	11	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934219	0.92458	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000539764	T;T;T	0.80653	-1.4;-1.4;-1.28	6.07	5.15	0.70609	Mitochondrial carrier domain (2);	0.046546	0.85682	D	0.000000	D	0.92077	0.7489	M	0.94142	3.5	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.80764	0.994;0.992	D	0.93478	0.6825	10	0.87932	D	0	-9.1903	14.564	0.68162	0.0718:0.0:0.9282:0.0	.	20;20	F5GX45;P55851	.;UCP2_HUMAN	D	20	ENSP00000312029:A20D;ENSP00000441147:A20D;ENSP00000438230:A20D	ENSP00000312029:A20D	A	-	2	0	UCP2	73367013	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.928000	0.87587	2.884000	0.98904	0.655000	0.94253	GCT	UCP2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling		0.532	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP2	HGNC	protein_coding	OTTHUMT00000398108.1	G	NM_003355		73689365	-1	no_errors	ENST00000310473	ensembl	human	known	70_37	missense	SNP	1.000	T
UGT1A7	54577	genome.wustl.edu	37	2	234590905	234590905	+	Silent	SNP	C	C	T	rs201200762		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr2:234590905C>T	ENST00000373426.3	+	1	322	c.322C>T	c.(322-324)Cta>Tta	p.L108L	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	108					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TGCATTTTCTCTATTAACAAG	0.398																																																	0													102.0	101.0	101.0					2																	234590905		2203	4300	6503	SO:0001819	synonymous_variant	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.322C>T	2.37:g.234590905C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B8K293|O00473	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L108	ENST00000373426.3	37	c.322	CCDS2506.1	2																																																																																			UGT1A7	-	pfam_UDP_glucos_trans		0.398	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A7	HGNC	protein_coding	OTTHUMT00000130614.1	C	NM_019077		234590905	+1	no_errors	ENST00000373426	ensembl	human	known	70_37	silent	SNP	0.000	T
UHRF1BP1	54887	genome.wustl.edu	37	6	34827265	34827265	+	Silent	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr6:34827265G>T	ENST00000192788.5	+	14	3303	c.3132G>T	c.(3130-3132)gtG>gtT	p.V1044V	UHRF1BP1_ENST00000452449.2_Silent_p.V1044V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1044							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGAAGCTGTGTCCCTGACTA	0.517																																																	0													113.0	117.0	116.0					6																	34827265		2114	4223	6337	SO:0001819	synonymous_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3132G>T	6.37:g.34827265G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NXE0	Silent	SNP	NULL	p.V1044	ENST00000192788.5	37	c.3132	CCDS43455.1	6																																																																																			UHRF1BP1	-	NULL		0.517	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	G	NM_017754		34827265	+1	no_errors	ENST00000192788	ensembl	human	known	70_37	silent	SNP	0.997	T
UHRF2	115426	genome.wustl.edu	37	9	6434148	6434148	+	Missense_Mutation	SNP	G	G	A	rs371780891		TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr9:6434148G>A	ENST00000276893.5	+	3	787	c.619G>A	c.(619-621)Gtt>Att	p.V207I	RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	207	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TGATGAAGACGTTATTTACCA	0.338																																																	0								G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	98.0	88.0	91.0		619	2.8	1.0	9		91	0,8600		0,0,4300	no	missense	UHRF2	NM_152896.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	207/803	6434148	1,13005	2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.619G>A	9.37:g.6434148G>A	ENSP00000276893:p.Val207Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.V207I	ENST00000276893.5	37	c.619	CCDS6469.1	9	.	.	.	.	.	.	.	.	.	.	G	9.986	1.229543	0.22542	2.27E-4	0.0	ENSG00000147854	ENST00000276893	D	0.85702	-2.02	5.61	2.77	0.32553	Domain of unknown function DUF3590 (1);	0.279439	0.33875	N	0.004476	T	0.71108	0.3301	N	0.21194	0.64	0.80722	D	1	B	0.27166	0.17	B	0.24394	0.053	T	0.60551	-0.7241	10	0.12103	T	0.63	-9.0073	9.9309	0.41521	0.2746:0.0:0.7254:0.0	.	207	Q96PU4	UHRF2_HUMAN	I	207	ENSP00000276893:V207I	ENSP00000276893:V207I	V	+	1	0	UHRF2	6424148	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.240000	0.43088	0.749000	0.32854	-0.225000	0.12378	GTT	UHRF2	-	pfam_DUF3590		0.338	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3	G	NM_152306		6434148	+1	no_errors	ENST00000276893	ensembl	human	known	70_37	missense	SNP	1.000	A
WAC	51322	genome.wustl.edu	37	10	28900809	28900809	+	Silent	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr10:28900809C>T	ENST00000354911.4	+	10	1556	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	WAC_ENST00000347934.4_Silent_p.I362I|WAC_ENST00000375646.1_Silent_p.I313I|WAC_ENST00000375664.4_Silent_p.I420I	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	465					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.I465M(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CAGTCCCTATCAAACCTTTGA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											157.0	130.0	139.0					10																	28900809		2203	4300	6503	SO:0001819	synonymous_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1395C>T	10.37:g.28900809C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.I465	ENST00000354911.4	37	c.1395	CCDS7159.1	10																																																																																			WAC	-	NULL		0.403	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	C	NM_100264		28900809	+1	no_errors	ENST00000354911	ensembl	human	known	70_37	silent	SNP	0.999	T
WBP11P1	441818	genome.wustl.edu	37	18	30092860	30092860	+	RNA	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr18:30092860G>T	ENST00000567636.1	+	0	1235					NR_003558.1				WW domain binding protein 11 pseudogene 1																		AGAGGACAATGATGAAGATGA	0.443																																																	0																																												441818			BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092860G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000567636.1	37	NULL		18																																																																																			WBP11P1	-	-		0.443	WBP11P1-002	KNOWN	basic	processed_transcript	WBP11P1	HGNC	pseudogene	OTTHUMT00000435119.1	G			30092860	+1	no_errors	ENST00000567636	ensembl	human	known	70_37	rna	SNP	0.988	T
WDR7	23335	genome.wustl.edu	37	18	54629743	54629743	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr18:54629743C>T	ENST00000254442.3	+	26	4358	c.4147C>T	c.(4147-4149)Cgg>Tgg	p.R1383W	WDR7_ENST00000357574.3_Missense_Mutation_p.R1350W|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1383					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTACGACATCCGGACTGGAAA	0.443																																																	0													93.0	83.0	86.0					18																	54629743		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4147C>T	18.37:g.54629743C>T	ENSP00000254442:p.Arg1383Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1383W	ENST00000254442.3	37	c.4147	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810990	0.90707	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.68331	-0.32;-0.32	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.83202	-0.0078	10	0.87932	D	0	.	19.415	0.94690	0.0:1.0:0.0:0.0	.	1350;1383	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	W	1383;1350;708;1350	ENSP00000254442:R1383W;ENSP00000350187:R1350W	ENSP00000254442:R1383W	R	+	1	2	WDR7	52780741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.491000	0.66887	2.677000	0.91161	0.655000	0.94253	CGG	WDR7	-	smart_WD40_repeat		0.443	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	C			54629743	+1	no_errors	ENST00000254442	ensembl	human	known	70_37	missense	SNP	1.000	T
ZBED4	9889	genome.wustl.edu	37	22	50277648	50277648	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr22:50277648G>T	ENST00000216268.5	+	2	815	c.338G>T	c.(337-339)aGc>aTc	p.S113I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	113						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAACATGAGCTCCAGGAAG	0.542																																																	0													55.0	60.0	59.0					22																	50277648		2203	4300	6503	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.338G>T	22.37:g.50277648G>T	ENSP00000216268:p.Ser113Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S113I	ENST00000216268.5	37	c.338	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560134	0.65538	.	.	ENSG00000100426	ENST00000216268	T	0.49432	0.78	5.31	3.02	0.34903	.	0.154218	0.56097	D	0.000027	T	0.41971	0.1182	L	0.29908	0.895	0.44595	D	0.997569	P	0.47409	0.895	P	0.47470	0.548	T	0.38585	-0.9654	10	0.87932	D	0	-7.8631	11.5352	0.50633	0.1546:0.0:0.8454:0.0	.	113	O75132	ZBED4_HUMAN	I	113	ENSP00000216268:S113I	ENSP00000216268:S113I	S	+	2	0	ZBED4	48663652	1.000000	0.71417	0.800000	0.32199	0.824000	0.46624	2.076000	0.41548	0.688000	0.31529	0.650000	0.86243	AGC	ZBED4	-	NULL		0.542	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	G	NM_014838		50277648	+1	no_errors	ENST00000216268	ensembl	human	known	70_37	missense	SNP	0.999	T
ZBTB7A	51341	genome.wustl.edu	37	19	4054708	4054709	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EA-A6QX-01A-12D-A33O-09	TCGA-EA-A6QX-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	676d4bc5-80c2-4db8-94b1-3dea2aed054a	6f0a4ae6-186b-46de-b2da-a87dd33725a2	g.chr19:4054708_4054709insG	ENST00000322357.4	-	2	800_801	c.522_523insC	c.(520-525)cccgcgfs	p.A175fs	ZBTB7A_ENST00000601588.1_Frame_Shift_Ins_p.A175fs	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	175	Ala-rich.|Poly-Ala.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		gcggcggccgcggggggcAGGC	0.668																																																	0																																										SO:0001589	frameshift_variant	51341			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.523dupC	19.37:g.4054714_4054714dupG	ENSP00000323670:p.Ala175fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W619|O00456|Q14D41|Q5XG86	Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A174fs	ENST00000322357.4	37	c.523_522	CCDS12119.1	19																																																																																			ZBTB7A	-	NULL		0.668	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2	-	NM_015898		4054709	-1	no_errors	ENST00000322357	ensembl	human	known	70_37	frame_shift_ins	INS	0.522:0.571	G
