#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FCRL5	83416	broad.mit.edu	37	1	157504477	157504477	+	Silent	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:157504477T>C	ENST00000361835.3	-	8	1765	c.1608A>G	c.(1606-1608)tcA>tcG	p.S536S	FCRL5_ENST00000368191.3_Silent_p.S451S|FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000368190.3_Silent_p.S536S|FCRL5_ENST00000356953.4_Silent_p.S536S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	536	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.S536S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTAATTCCCTGAATGTCCTT	0.512																																						ENST00000361835.3																			1	Substitution - coding silent(1)	p.S536S(1)	prostate(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1606-1608)tcA>tcG		Fc receptor-like 5							56.0	56.0	56.0					1																	157504477		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504477T>C	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1608A>G	1.37:g.157504477T>C						FCRL5_ENST00000368190.3_Silent_p.S536S|FCRL5_ENST00000356953.4_Silent_p.S536S|FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000368191.3_Silent_p.S451S	p.S536S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			8	1765	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	536			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.1608A>G	CCDS1165.1																																																																																				0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		31	55	0	0	0	0.760397	0	31	55				
DDX50	79009	broad.mit.edu	37	10	70673941	70673941	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:70673941A>G	ENST00000373585.3	+	7	1177	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	357						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATGACTCAAAAGGCTGCAACT	0.338																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1069-1071)aAg>aGg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							63.0	60.0	61.0					10																	70673941		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673941A>G	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1070A>G	10.37:g.70673941A>G	ENSP00000362687:p.Lys357Arg						p.K357R	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			7	1177	+			357					Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1070A>G	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.530250	0.45073	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20738	2.05	5.49	5.49	0.81192	DEAD-like helicase (1);	0.041067	0.85682	D	0.000000	T	0.16896	0.0406	N	0.17594	0.5	0.49483	D	0.999798	P;P	0.41475	0.468;0.751	B;B	0.42522	0.147;0.39	T	0.06338	-1.0832	10	0.27082	T	0.32	-9.7833	15.8838	0.79226	1.0:0.0:0.0:0.0	.	357;357	Q9BQ39;B4DED6	DDX50_HUMAN;.	R	357	ENSP00000362687:K357R	ENSP00000362687:K357R	K	+	2	0	DDX50	70343947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.980000	0.70516	2.216000	0.71823	0.379000	0.24179	AAG		0.338	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		3	137	0	0	0	0.115264	0	3	137				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	98	0	0	0	0.150653	0	4	98				
HAP1	9001	broad.mit.edu	37	17	39881381	39881381	+	Nonsense_Mutation	SNP	G	G	A	rs151108506		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr17:39881381G>A	ENST00000310778.5	-	12	1597	c.1588C>T	c.(1588-1590)Cga>Tga	p.R530*	HAP1_ENST00000347901.4_Nonsense_Mutation_p.R478*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Nonsense_Mutation_p.R453*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.R461*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	530	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCTGCTCTCGATCCTCACTG	0.607																																						ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1357-1359)Cga>Tga		huntingtin-associated protein 1							113.0	125.0	121.0					17																	39881381		2203	4300	6503	SO:0001587	stop_gained	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881381G>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1588C>T	17.37:g.39881381G>A	ENSP00000309392:p.Arg530*					HAP1_ENST00000347901.4_Nonsense_Mutation_p.R478*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Nonsense_Mutation_p.R461*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.R530*	p.R453*			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1366	-		Breast(137;0.000162)	477			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Nonsense_Mutation	SNP	ENST00000310778.5	37	c.1357C>T		.	.	.	.	.	.	.	.	.	.	G	21.3	4.132326	0.77662	.	.	ENSG00000173805	ENST00000442364;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	.	.	.	3.44	0.131	0.14755	.	1.577690	0.04530	N	0.386100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.7645	8.9772	0.35944	0.0:0.131:0.5715:0.2975	.	.	.	.	X	5;453;530;478;461	.	ENSP00000309392:R530X	R	-	1	2	HAP1	37134907	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.042000	0.13949	-0.181000	0.10619	-2.529000	0.00182	CGA		0.607	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		6	300	0	0	0	0.278610	0	6	300				
NLRP5	126206	broad.mit.edu	37	19	56539873	56539873	+	Silent	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:56539873A>G	ENST00000390649.3	+	7	2274	c.2274A>G	c.(2272-2274)ctA>ctG	p.L758L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	758					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.L758L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGTCCCTCTATGGTGAGTAC	0.527																																						ENST00000390649.3																			2	Substitution - coding silent(2)	p.L758L(2)	prostate(1)|lung(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2272-2274)ctA>ctG		NLR family, pyrin domain containing 5							127.0	127.0	127.0					19																	56539873		2008	4186	6194	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539873A>G	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2274A>G	19.37:g.56539873A>G							p.L758L	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2274	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	758					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2274A>G	CCDS12938.1																																																																																				0.527	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		8	346	0	0	0	0.335167	0	8	346				
DDX19B	11269	broad.mit.edu	37	16	70363960	70363960	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:70363960A>G	ENST00000288071.6	+	9	1257	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V|DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V|DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	338	C-terminal lobe.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.I338V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TCAAGCCATGATCTTCTGCCA	0.592																																					Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			1	Substitution - Missense(1)	p.I338V(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(1012-1014)Atc>Gtc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B							156.0	127.0	137.0					16																	70363960		2198	4300	6498	SO:0001583	missense	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70363960A>G	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.1012A>G	16.37:g.70363960A>G	ENSP00000288071:p.Ile338Val					DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V|DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V|DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V|DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V	p.I338V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			9	1257	+		Ovarian(137;0.0694)	338			Helicase C-terminal.		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	c.1012A>G	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004473	0.54254	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.19	5.19	0.71726	Helicase, C-terminal (1);	0.048613	0.85682	D	0.000000	T	0.05640	0.0148	L	0.33293	1	0.80722	D	1	B;B;B	0.12630	0.006;0.0;0.002	B;B;B	0.19946	0.027;0.001;0.005	T	0.29518	-1.0009	10	0.56958	D	0.05	-10.709	13.0428	0.58910	1.0:0.0:0.0:0.0	.	312;307;338	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	V	312;307;229;338	ENSP00000392639:I312V;ENSP00000348271:I307V;ENSP00000377267:I229V;ENSP00000288071:I338V	ENSP00000288071:I338V	I	+	1	0	DDX19B	68921461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.801000	0.62532	2.192000	0.70111	0.496000	0.49642	ATC		0.592	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		11	150	0	0	0	0.457914	0	11	150				
EFS	10278	broad.mit.edu	37	14	23828655	23828655	+	Silent	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:23828655C>T	ENST00000216733.3	-	4	1639	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	EFS_ENST00000429593.2_Silent_p.L175L|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Silent_p.L251L	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	344	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.L344L(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CATAACCAGGCAGGCGGGGTG	0.687																																						ENST00000216733.3																			1	Substitution - coding silent(1)	p.L344L(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1030-1032)ctG>ctA		embryonal Fyn-associated substrate							39.0	38.0	39.0					14																	23828655		2031	4002	6033	SO:0001819	synonymous_variant	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828655C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1032G>A	14.37:g.23828655C>T						EFS_ENST00000429593.2_Silent_p.L175L|EFS_ENST00000351354.3_Silent_p.L251L	p.L344L	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1639	-	all_cancers(95;7.12e-06)		344			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.1032G>A	CCDS9595.1																																																																																				0.687	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			33	61	0	0	0	0.760397	0	33	61				
NOVA1	4857	broad.mit.edu	37	14	26917261	26917261	+	Silent	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:26917261T>C	ENST00000539517.2	-	5	1745	c.1428A>G	c.(1426-1428)ggA>ggG	p.G476G	NOVA1_ENST00000267422.7_Silent_p.G354G|NOVA1_ENST00000465357.2_Silent_p.G452G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	479	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G476G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAGCTGGTGTTCCAGTAATGG	0.458																																						ENST00000539517.2																			1	Substitution - coding silent(1)	p.G476G(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1426-1428)ggA>ggG		neuro-oncological ventral antigen 1							152.0	130.0	137.0					14																	26917261		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917261T>C	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1428A>G	14.37:g.26917261T>C						NOVA1_ENST00000267422.7_Silent_p.G354G|NOVA1_ENST00000465357.2_Silent_p.G452G	p.G476G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1745	-			479			KH 3.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000539517.2	37	c.1428A>G	CCDS32061.1																																																																																				0.458	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		50	90	0	0	0	0.870114	0	50	90				
GIF	2694	broad.mit.edu	37	11	59608634	59608634	+	Silent	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:59608634A>G	ENST00000257248.2	-	5	722	c.675T>C	c.(673-675)agT>agC	p.S225S	GIF_ENST00000541311.1_Silent_p.S200S	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	225					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.S225S(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CGAGGCCAGTACTGTAGATGT	0.463																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			1	Substitution - coding silent(1)	p.S225S(1)	prostate(1)	large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(598-600)agT>agC		gastric intrinsic factor (vitamin B synthesis)							254.0	220.0	232.0					11																	59608634		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59608634A>G	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.675T>C	11.37:g.59608634A>G						GIF_ENST00000257248.2_Silent_p.S225S	p.S200S			P27352	IF_HUMAN			5	834	-			225					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.600T>C	CCDS7977.1																																																																																				0.463	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		57	101	0	0	0	0.870114	0	57	101				
GSKIP	51527	broad.mit.edu	37	14	96848763	96848763	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:96848763C>T	ENST00000556095.1	+	3	1991	c.179C>T	c.(178-180)gCg>gTg	p.A60V	GSKIP_ENST00000554182.1_Missense_Mutation_p.A60V|GSKIP_ENST00000438650.1_Missense_Mutation_p.A60V|RNU2-33P_ENST00000410344.1_RNA|GSKIP_ENST00000555181.1_Missense_Mutation_p.A60V	NM_001271904.1	NP_001258833.1	Q9P0R6	GSKIP_HUMAN	GSK3B interacting protein	60						cytoplasm (GO:0005737)		p.A60V(1)									CTGCGGTGTGCGGATGATGTG	0.428																																						ENST00000556095.1																			1	Substitution - Missense(1)	p.A60V(1)	prostate(1)								c.(178-180)gCg>gTg		GSK3B interacting protein							145.0	138.0	140.0					14																	96848763		2203	4300	6503	SO:0001583	missense	51527							g.chr14:96848763C>T	AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744			20343	protein-coding gene	gene with protein product	"""GSK3beta interaction protein"""		"""chromosome 14 open reading frame 129"""	C14orf129		16981698, 21328310	Standard	NM_001271904		Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.179C>T	14.37:g.96848763C>T	ENSP00000451188:p.Ala60Val					GSKIP_ENST00000554182.1_Missense_Mutation_p.A60V|GSKIP_ENST00000438650.1_Missense_Mutation_p.A60V|GSKIP_ENST00000555181.1_Missense_Mutation_p.A60V	p.A60V	NM_001271904.1	NP_001258833.1					3	1991	+								B3KSZ0|Q9BST1|Q9NWK0	Missense_Mutation	SNP	ENST00000556095.1	37	c.179C>T	CCDS32153.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312768	0.81358	.	.	ENSG00000100744	ENST00000555181;ENST00000553699;ENST00000554182;ENST00000556095;ENST00000438650;ENST00000555757	.	.	.	5.66	5.66	0.87406	GSKIP/TIF31 domain (1);	0.148693	0.64402	D	0.000013	T	0.51924	0.1703	L	0.44542	1.39	0.53005	D	0.999966	P	0.44090	0.826	B	0.36885	0.235	T	0.57785	-0.7751	9	0.56958	D	0.05	0.0417	19.7297	0.96177	0.0:1.0:0.0:0.0	.	60	Q9P0R6	GSKIP_HUMAN	V	60	.	ENSP00000412315:A60V	A	+	2	0	C14orf129	95918516	1.000000	0.71417	0.972000	0.41901	0.973000	0.67179	5.420000	0.66441	2.658000	0.90341	0.650000	0.86243	GCG		0.428	GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413338.1	NM_016472		74	110	0	0	0	0.870114	0	74	110				
ADH4	127	broad.mit.edu	37	4	100062745	100062745	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:100062745T>C	ENST00000265512.7	-	3	283	c.209A>G	c.(208-210)gAg>gGg	p.E70G	ADH4_ENST00000504581.1_5'Flank|ADH4_ENST00000508393.1_Missense_Mutation_p.E89G|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.E89G|ADH4_ENST00000423445.1_Missense_Mutation_p.E89G	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	70					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		ACCTGCAGCCTCATGGCCAAC	0.418																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(265-267)gAg>gGg		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						98.0	86.0	90.0					4																	100062745		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100062745T>C	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.209A>G	4.37:g.100062745T>C	ENSP00000265512:p.Glu70Gly					ADH4_ENST00000505590.1_Missense_Mutation_p.E89G|ADH4_ENST00000265512.7_Missense_Mutation_p.E70G|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Missense_Mutation_p.E89G	p.E89G			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	4	431	-			70					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.266A>G	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159072	0.78226	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	4.44	3.27	0.37495	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.64713	0.2623	H	0.99789	4.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.74542	-0.3631	10	0.87932	D	0	-0.823	9.6217	0.39725	0.0:0.082:0.0:0.918	.	89;70	P08319-2;P08319	.;ADH4_HUMAN	G	89;70;89;89;89;70	ENSP00000424630:E89G;ENSP00000265512:E70G;ENSP00000397939:E89G;ENSP00000425416:E89G;ENSP00000423571:E89G;ENSP00000427525:E70G	ENSP00000265512:E70G	E	-	2	0	ADH4	100281768	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	4.911000	0.63328	0.757000	0.33036	0.533000	0.62120	GAG		0.418	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		3	101	0	0	0	0.115264	0	3	101				
DHX57	90957	broad.mit.edu	37	2	39088318	39088318	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:39088318T>C	ENST00000295373.6	-	5	1360	c.1234A>G	c.(1234-1236)Ata>Gta	p.I412V	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	412							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I412V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAAAGGGTTATCAAAGAATAT	0.423																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			1	Substitution - Missense(1)	p.I412V(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1234-1236)Ata>Gta		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							106.0	108.0	108.0					2																	39088318		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088318T>C	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1234A>G	2.37:g.39088318T>C	ENSP00000295373:p.Ile412Val					DHX57_ENST00000479345.2_5'UTR	p.I412V	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			5	1360	-		all_hematologic(82;0.248)	412					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.1234A>G	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	T	9.874	1.199748	0.22121	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.25912	1.77	5.67	5.67	0.87782	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.106321	0.43579	D	0.000553	T	0.17662	0.0424	L	0.32530	0.975	0.41776	D	0.98979	B;B	0.20671	0.047;0.004	B;B	0.25405	0.06;0.028	T	0.12041	-1.0563	10	0.12766	T	0.61	.	8.039	0.30511	0.0:0.1547:0.0:0.8453	.	412;412	Q6P158-2;Q6P158	.;DHX57_HUMAN	V	412;310	ENSP00000295373:I412V	ENSP00000295373:I412V	I	-	1	0	DHX57	38941822	0.997000	0.39634	1.000000	0.80357	0.624000	0.37722	2.014000	0.40951	2.164000	0.68074	0.533000	0.62120	ATA		0.423	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		106	149	0	0	0	0.870114	0	106	149				
IL17RC	84818	broad.mit.edu	37	3	9970113	9970113	+	Silent	SNP	T	T	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr3:9970113T>G	ENST00000295981.3	+	11	1433	c.1215T>G	c.(1213-1215)ggT>ggG	p.G405G	IL17RC_ENST00000455057.1_Silent_p.G319G|IL17RC_ENST00000403601.3_Silent_p.G334G|IL17RC_ENST00000416074.2_Silent_p.G190G|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Silent_p.G334G|IL17RC_ENST00000383812.4_Silent_p.G319G	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	405					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.G405G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGCTCCGGGTGGGGACCCCT	0.682																																						ENST00000295981.3																			1	Substitution - coding silent(1)	p.G405G(1)	kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1213-1215)ggT>ggG		interleukin 17 receptor C							30.0	37.0	35.0					3																	9970113		2202	4297	6499	SO:0001819	synonymous_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9970113T>G	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1215T>G	3.37:g.9970113T>G						IL17RC_ENST00000383812.4_Silent_p.G319G|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Silent_p.G334G|IL17RC_ENST00000455057.1_Silent_p.G319G|IL17RC_ENST00000413608.1_Silent_p.G334G|IL17RC_ENST00000416074.2_Silent_p.G190G	p.G405G	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			11	1433	+			405					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	c.1215T>G	CCDS2590.1																																																																																				0.682	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		12	63	0	0	0	0.840704	0	12	63				
USH2A	7399	broad.mit.edu	37	1	216052411	216052411	+	Silent	SNP	G	G	A	rs368877266		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:216052411G>A	ENST00000307340.3	-	42	8639	c.8253C>T	c.(8251-8253)aaC>aaT	p.N2751N	USH2A_ENST00000366943.2_Silent_p.N2751N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2751	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N2751N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATGTCTCCGTTCTGGATGA	0.418										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - coding silent(1)	p.N2751N(1)	prostate(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8251-8253)aaC>aaT		Usher syndrome 2A (autosomal recessive, mild)		G		0,4406		0,0,2203	113.0	119.0	117.0		8253	2.3	1.0	1		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USH2A	NM_206933.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2751/5203	216052411	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052411G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8253C>T	1.37:g.216052411G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.N2751N	p.N2751N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8639	-			2751			Fibronectin type-III 14.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8253C>T	CCDS31025.1																																																																																				0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		60	111	0	0	0	0.870114	0	60	111				
DUSP16	80824	broad.mit.edu	37	12	12630584	12630584	+	Missense_Mutation	SNP	T	T	C	rs529933489		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:12630584T>C	ENST00000228862.2	-	7	1812	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	394					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N394S(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTTGAGCTTATTGCTGTCTTC	0.552																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			1	Substitution - Missense(1)	p.N394S(1)	prostate(1)	endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1180-1182)aAt>aGt		dual specificity phosphatase 16							84.0	86.0	85.0					12																	12630584		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630584T>C	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1181A>G	12.37:g.12630584T>C	ENSP00000228862:p.Asn394Ser					DUSP16_ENST00000298573.4_3'UTR	p.N394S	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1812	-		Prostate(47;0.0687)	394					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1181A>G	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.430563	0.25726	.	.	ENSG00000111266	ENST00000228862	T	0.02446	4.29	5.58	-10.6	0.00265	.	1.030640	0.07639	N	0.929921	T	0.02012	0.0063	L	0.31065	0.9	0.31816	N	0.626632	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.35649	-0.9780	10	0.44086	T	0.13	.	8.1408	0.31082	0.0:0.372:0.3007:0.3273	.	394;394	Q9BY84;Q96N49	DUS16_HUMAN;.	S	394	ENSP00000228862:N394S	ENSP00000228862:N394S	N	-	2	0	DUSP16	12521851	0.009000	0.17119	0.000000	0.03702	0.926000	0.56050	-0.717000	0.04986	-2.482000	0.00522	-0.468000	0.05107	AAT		0.552	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		53	91	0	0	0	0.870114	0	53	91				
LRP1	4035	broad.mit.edu	37	12	57566959	57566959	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:57566959C>A	ENST00000243077.3	+	21	3638	c.3172C>A	c.(3172-3174)Ccc>Acc	p.P1058T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1058					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.P1058T(3)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCCACGAGGCCCCCTGGTGG	0.672											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243077.3																			3	Substitution - Missense(3)	p.P1058T(3)	prostate(2)|endometrium(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(3172-3174)Ccc>Acc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						45.0	42.0	43.0					12																	57566959		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57566959C>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3172C>A	12.37:g.57566959C>A	ENSP00000243077:p.Pro1058Thr		OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024		p.P1058T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	21	3638	+			1058					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3172C>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589375	0.66105	.	.	ENSG00000123384	ENST00000243077	D	0.91237	-2.81	5.08	4.19	0.49359	.	0.000000	0.64402	D	0.000001	D	0.89255	0.6663	N	0.13140	0.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85355	0.1104	10	0.10902	T	0.67	.	14.634	0.68676	0.0:0.8532:0.1468:0.0	.	1058	Q07954	LRP1_HUMAN	T	1058	ENSP00000243077:P1058T	ENSP00000243077:P1058T	P	+	1	0	LRP1	55853226	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	7.488000	0.81441	1.355000	0.45865	0.561000	0.74099	CCC		0.672	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	54	1	0	7.48243e-07	0.335167	8.78372e-07	9	54				
PRKDC	5591	broad.mit.edu	37	8	48771531	48771531	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:48771531G>A	ENST00000314191.2	-	48	6277	c.6221C>T	c.(6220-6222)aCg>aTg	p.T2074M	PRKDC_ENST00000338368.3_Missense_Mutation_p.T2074M|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2075					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.T2075M(1)|p.T2074M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCATGCACCGTGGGGTCCCG	0.602								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			2	Substitution - Missense(2)	p.T2075M(1)|p.T2074M(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(6220-6222)aCg>aTg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							101.0	107.0	105.0					8																	48771531		2182	4288	6470	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48771531G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6221C>T	8.37:g.48771531G>A	ENSP00000313420:p.Thr2074Met					PRKDC_ENST00000338368.3_Missense_Mutation_p.T2074M|PRKDC_ENST00000523565.1_5'UTR	p.T2074M	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			48	6277	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2075					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6221C>T		.	.	.	.	.	.	.	.	.	.	G	10.94	1.494300	0.26774	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02890	4.18;4.12	5.61	-6.56	0.01848	NUC194 (1);Armadillo-type fold (1);	1.988910	0.01777	N	0.031532	T	0.00998	0.0033	N	0.00538	-1.39	0.09310	N	1	B;B	0.15930	0.015;0.0	B;B	0.14023	0.01;0.004	T	0.50268	-0.8848	10	0.45353	T	0.12	.	5.8189	0.18516	0.3638:0.0:0.2186:0.4176	.	2074;2075	E7EUY0;P78527	.;PRKDC_HUMAN	M	2074	ENSP00000313420:T2074M;ENSP00000345182:T2074M	ENSP00000313420:T2074M	T	-	2	0	PRKDC	48934084	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.164000	0.09983	-1.025000	0.03334	-0.367000	0.07326	ACG		0.602	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	265	0	0	0	0.278610	0	7	265				
MST1L	11223	broad.mit.edu	37	1	17084968	17084968	+	RNA	SNP	G	G	C	rs2761533		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:17084968G>C	ENST00000455405.2	-	0	220							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R472G(1)|p.R503G(1)									CACCGATTCCGCAAGCTGACT	0.617																																						ENST00000455405.2																			2	Substitution - Missense(2)	p.R472G(1)|p.R503G(1)	prostate(2)																																																0							g.chr1:17084968G>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084968G>C														0	220	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	11.51	1.661479	0.29515	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38778	N	0.001564	T	0.61362	0.2341	.	.	.	.	.	.	B;D	0.55800	0.436;0.973	B;P	0.62885	0.146;0.908	T	0.65582	-0.6133	6	0.72032	D	0.01	.	4.8114	0.13345	1.0E-4:0.0:0.6578:0.3421	rs2761533;rs3981969;rs3982160;rs4052591;rs11485892	503;503	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	G	472;503;503	.	ENSP00000439273:R503G	R	-	1	2	MST1P9	16957555	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.873000	0.39558	-0.000000	0.14550	0.000000	0.15137	CGG		0.617	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		9	72	0	0	0	0.361761	0	9	72				
NRCAM	4897	broad.mit.edu	37	7	107834822	107834822	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr7:107834822T>A	ENST00000425651.2	-	13	1513	c.1514A>T	c.(1513-1515)cAt>cTt	p.H505L	NRCAM_ENST00000379028.3_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L|NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L|NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L|NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	505	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.H499L(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCATTTTCATGTAAAACATA	0.333																																						ENST00000379028.3																			1	Substitution - Missense(1)	p.H499L(1)	prostate(1)	breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1513-1515)cAt>cTt		neuronal cell adhesion molecule							81.0	76.0	78.0					7																	107834822		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107834822T>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1514A>T	7.37:g.107834822T>A	ENSP00000401244:p.His505Leu					NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L|NRCAM_ENST00000425651.2_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L|NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L|NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L	p.H505L			Q92823	NRCAM_HUMAN			16	1984	-			505			Ig-like 5.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1514A>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559148	0.86335	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64983	0.2648	N	0.11341	0.13	0.80722	D	1	P;D;P;P;B	0.89917	0.849;1.0;0.908;0.659;0.197	B;D;P;B;B	0.91635	0.395;0.999;0.737;0.398;0.157	T	0.61594	-0.7031	10	0.09338	T	0.73	.	16.2147	0.82198	0.0:0.0:0.0:1.0	.	505;486;486;499;505	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	L	505;505;486;505;499;486;505;505;499	ENSP00000368314:H505L;ENSP00000407858:H486L;ENSP00000325269:H499L;ENSP00000368310:H486L;ENSP00000401244:H505L;ENSP00000368308:H505L	ENSP00000325269:H499L	H	-	2	0	NRCAM	107622058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.231000	0.72958	0.460000	0.39030	CAT		0.333	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		62	116	0	0	0	0.870114	0	62	116				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	43	0	0	0	0.115264	0	3	43				
SORBS1	10580	broad.mit.edu	37	10	97192297	97192297	+	Missense_Mutation	SNP	G	G	A	rs367690122		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:97192297G>A	ENST00000361941.3	-	4	235	c.209C>T	c.(208-210)gCg>gTg	p.A70V	SORBS1_ENST00000277982.5_Missense_Mutation_p.A70V|SORBS1_ENST00000371239.1_Missense_Mutation_p.A38V|SORBS1_ENST00000371247.2_Missense_Mutation_p.A70V|SORBS1_ENST00000371249.2_Missense_Mutation_p.A38V|SORBS1_ENST00000371227.4_Missense_Mutation_p.A70V|SORBS1_ENST00000347291.4_Missense_Mutation_p.A70V|SORBS1_ENST00000371245.3_Missense_Mutation_p.A70V|SORBS1_ENST00000353505.5_Missense_Mutation_p.A70V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A70V|SORBS1_ENST00000306402.6_Missense_Mutation_p.A70V|SORBS1_ENST00000393949.1_Missense_Mutation_p.A70V|SORBS1_ENST00000371241.1_Missense_Mutation_p.A38V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371246.2_Missense_Mutation_p.A70V|SORBS1_ENST00000607232.1_Missense_Mutation_p.A38V	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.A70V(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGAGTCACCGCTCCCTTCCC	0.517																																						ENST00000371247.2																			2	Substitution - Missense(2)	p.A70V(2)	prostate(2)	NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(208-210)gCg>gTg		sorbin and SH3 domain containing 1		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	84.0	88.0	87.0		209,209,209,113,113,113,209	4.7	0.9	10		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	64,64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	70/1293,70/1152,70/906,38/741,38/685,38/817,70/782	97192297	1,13005	2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97192297G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.209C>T	10.37:g.97192297G>A	ENSP00000355136:p.Ala70Val					SORBS1_ENST00000607232.1_Missense_Mutation_p.A38V|SORBS1_ENST00000371246.2_Missense_Mutation_p.A70V|SORBS1_ENST00000353505.5_Missense_Mutation_p.A70V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Missense_Mutation_p.A70V|SORBS1_ENST00000393949.1_Missense_Mutation_p.A70V|SORBS1_ENST00000371241.1_Missense_Mutation_p.A38V|SORBS1_ENST00000371227.4_Missense_Mutation_p.A70V|SORBS1_ENST00000347291.4_Missense_Mutation_p.A70V|SORBS1_ENST00000361941.3_Missense_Mutation_p.A70V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A70V|SORBS1_ENST00000371249.2_Missense_Mutation_p.A38V|SORBS1_ENST00000277982.5_Missense_Mutation_p.A70V|SORBS1_ENST00000371245.3_Missense_Mutation_p.A70V|SORBS1_ENST00000371239.1_Missense_Mutation_p.A38V	p.A70V			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	6	398	-		Colorectal(252;0.0429)	70						Missense_Mutation	SNP	ENST00000361941.3	37	c.209C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774897	0.31411	0.0	1.16E-4	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.10960	3.49;2.86;2.86;3.24;3.14;3.5;3.06;3.49;2.86;3.24;3.5;2.82;3.06;2.88	5.75	4.66	0.58398	.	0.209910	0.24054	N	0.041966	T	0.14313	0.0346	L	0.27053	0.805	0.09310	N	1	P;B;P;P;P;B;B;P;D;P;D;B	0.54772	0.858;0.342;0.762;0.901;0.833;0.026;0.275;0.633;0.968;0.841;0.967;0.12	B;B;B;B;B;B;B;B;P;B;P;B	0.53006	0.207;0.027;0.324;0.361;0.312;0.036;0.207;0.3;0.454;0.197;0.715;0.058	T	0.03887	-1.0995	10	0.72032	D	0.01	-5.8624	12.9297	0.58280	0.0881:0.0:0.9119:0.0	.	38;38;38;70;38;70;38;38;70;70;70;70	B7Z9B7;B4DTX5;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.	V	70;70;38;70;70;70;70;70;70;70;70;38;70;38	ENSP00000360291:A70V;ENSP00000302556:A70V;ENSP00000360295:A38V;ENSP00000360293:A70V;ENSP00000360271:A70V;ENSP00000360292:A70V;ENSP00000377521:A70V;ENSP00000343998:A70V;ENSP00000277985:A70V;ENSP00000355136:A70V;ENSP00000277982:A70V;ENSP00000360285:A38V;ENSP00000277984:A70V;ENSP00000360283:A38V	ENSP00000277982:A70V	A	-	2	0	SORBS1	97182287	1.000000	0.71417	0.946000	0.38457	0.852000	0.48524	4.491000	0.60326	2.706000	0.92434	0.655000	0.94253	GCG		0.517	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			45	86	0	0	0	0.847076	0	45	86				
CLIP1	6249	broad.mit.edu	37	12	122825728	122825728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:122825728C>A	ENST00000540338.1	-	10	2064	c.2023G>T	c.(2023-2025)Gaa>Taa	p.E675*	CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.E664*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	675					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E664*(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGCAAATTTTCTATTTCGTGT	0.388																																						ENST00000358808.2																			1	Substitution - Nonsense(1)	p.E664*(1)	prostate(1)	NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1990-1992)Gaa>Taa		CAP-GLY domain containing linker protein 1							138.0	143.0	142.0					12																	122825728		2203	4300	6503	SO:0001587	stop_gained	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825728C>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2023G>T	12.37:g.122825728C>A	ENSP00000439093:p.Glu675*					CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.E675*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664*	p.E664*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2144	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		675					A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	ENST00000540338.1	37	c.1990G>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	38	7.270435	0.98179	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	.	.	.	5.5	4.61	0.57282	.	0.203872	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-10.3364	8.0875	0.30782	0.1306:0.7303:0.0:0.1391	.	.	.	.	X	365;664;664;509;629;675;598	.	ENSP00000303585:E664X	E	-	1	0	CLIP1	121391681	0.998000	0.40836	0.991000	0.47740	0.976000	0.68499	3.845000	0.55880	1.459000	0.47892	0.655000	0.94253	GAA		0.388	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		147	255	1	0	3.04763e-91	0.870114	3.85716e-91	147	255				
MYNN	55892	broad.mit.edu	37	3	169497118	169497118	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr3:169497118A>G	ENST00000349841.5	+	3	1492	c.829A>G	c.(829-831)Ata>Gta	p.I277V	MYNN_ENST00000544106.1_Missense_Mutation_p.I277V|MYNN_ENST00000392733.1_Missense_Mutation_p.I277V|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.I277V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I277V(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TATGTCTAATATAGCCAGCGT	0.458																																						ENST00000349841.5																			1	Substitution - Missense(1)	p.I277V(1)	prostate(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(829-831)Ata>Gta		myoneurin							54.0	47.0	49.0					3																	169497118		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169497118A>G	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.829A>G	3.37:g.169497118A>G	ENSP00000326240:p.Ile277Val					MYNN_ENST00000356716.4_Missense_Mutation_p.I277V|MYNN_ENST00000544106.1_Missense_Mutation_p.I277V|MYNN_ENST00000392733.1_Missense_Mutation_p.I277V|RP11-362K14.5_ENST00000602342.1_RNA	p.I277V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		3	1492	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		277					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.829A>G	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	A	9.432	1.085908	0.20390	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.08807	3.21;3.21;3.05;3.05	5.38	4.23	0.50019	.	0.059687	0.64402	D	0.000002	T	0.08179	0.0204	N	0.14661	0.345	0.36924	D	0.891551	B;P	0.35745	0.005;0.518	B;P	0.44647	0.011;0.456	T	0.37174	-0.9717	10	0.48119	T	0.1	.	10.918	0.47148	0.9262:0.0:0.0737:0.0	.	277;277	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	V	277	ENSP00000349150:I277V;ENSP00000326240:I277V;ENSP00000376492:I277V;ENSP00000440637:I277V	ENSP00000326240:I277V	I	+	1	0	MYNN	170979812	0.989000	0.36119	1.000000	0.80357	0.880000	0.50808	2.468000	0.45102	2.167000	0.68274	0.528000	0.53228	ATA		0.458	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		28	59	0	0	0	0.706142	0	28	59				
MRPL38	64978	broad.mit.edu	37	17	73897875	73897875	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr17:73897875C>T	ENST00000309352.3	-	4	1046	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	MRPL38_ENST00000585475.1_5'UTR|RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	170						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.R170Q(1)		ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGGGGACTCGGGGCACAAA	0.607																																						ENST00000309352.3																			1	Substitution - Missense(1)	p.R170Q(1)	prostate(1)	ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(508-510)cGa>cAa		mitochondrial ribosomal protein L38							84.0	64.0	70.0					17																	73897875		2202	4300	6502	SO:0001583	missense	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73897875C>T	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.509G>A	17.37:g.73897875C>T	ENSP00000308275:p.Arg170Gln					MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR	p.R170Q	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	1046	-			170					B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	c.509G>A	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538415	0.27475	.	.	ENSG00000204316	ENST00000309352	T	0.21543	2.0	5.43	4.46	0.54185	.	0.389746	0.27236	N	0.020295	T	0.17109	0.0411	L	0.48362	1.52	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.04400	-1.0954	10	0.09843	T	0.71	-7.5846	11.0482	0.47872	0.0:0.851:0.0:0.149	.	170	Q96DV4	RM38_HUMAN	Q	170	ENSP00000308275:R170Q	ENSP00000308275:R170Q	R	-	2	0	MRPL38	71409470	0.995000	0.38212	0.785000	0.31869	0.355000	0.29361	3.512000	0.53407	1.282000	0.44496	0.650000	0.86243	CGA		0.607	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		29	49	0	0	0	0.706142	0	29	49				
ARID5A	10865	broad.mit.edu	37	2	97216444	97216444	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:97216444G>A	ENST00000357485.3	+	6	622	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	ARID5A_ENST00000454558.2_Missense_Mutation_p.A114T	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	182					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A182T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCCGAAGAAGGCCAAGGAGGA	0.647																																						ENST00000454558.2																			1	Substitution - Missense(1)	p.A182T(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(340-342)Gcc>Acc		AT rich interactive domain 5A (MRF1-like)							27.0	21.0	23.0					2																	97216444		2193	4297	6490	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97216444G>A	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.544G>A	2.37:g.97216444G>A	ENSP00000350078:p.Ala182Thr					ARID5A_ENST00000357485.3_Missense_Mutation_p.A182T	p.A114T			Q03989	ARI5A_HUMAN			6	1517	+			182			ARID.		Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.340G>A	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	g	15.63	2.889686	0.52014	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.65178	-0.14	4.69	2.85	0.33270	.	0.905863	0.09088	N	0.850286	T	0.53045	0.1772	L	0.60455	1.87	0.25440	N	0.988108	B;B;B	0.22276	0.067;0.005;0.009	B;B;B	0.12837	0.008;0.007;0.004	T	0.40079	-0.9582	10	0.16420	T	0.52	-6.5136	6.1546	0.20330	0.1015:0.1897:0.7088:0.0	.	182;114;182	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	T	182;182;114	ENSP00000350078:A182T	ENSP00000350078:A182T	A	+	1	0	ARID5A	96580171	0.966000	0.33281	0.988000	0.46212	0.446000	0.32137	0.645000	0.24782	0.566000	0.29273	-0.258000	0.10820	GCC		0.647	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		8	5	0	0	0	0.335167	0	8	5				
ADCY8	114	broad.mit.edu	37	8	131792813	131792813	+	Silent	SNP	G	G	A	rs146198447		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:131792813G>A	ENST00000286355.5	-	18	5671	c.3579C>T	c.(3577-3579)gcC>gcT	p.A1193A	ADCY8_ENST00000377928.3_Silent_p.A1062A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1193					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A1193A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGACAACCGCGGCCAGGGAGT	0.498										HNSCC(32;0.087)			G|||	1	0.000199681	0.0	0.0	5008	,	,		13921	0.0		0.001	False		,,,				2504	0.0					ENST00000286355.5																			1	Substitution - coding silent(1)	p.A1193A(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3577-3579)gcC>gcT		adenylate cyclase 8 (brain)		G		0,4406		0,0,2203	146.0	146.0	146.0		3579	-8.8	0.8	8	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCY8	NM_001115.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1193/1252	131792813	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792813G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3579C>T	8.37:g.131792813G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.A1062A	p.A1193A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	5671	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1193						Silent	SNP	ENST00000286355.5	37	c.3579C>T	CCDS6363.1																																																																																				0.498	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			62	99	0	0	0	0.870114	0	62	99				
CHD6	84181	broad.mit.edu	37	20	40162157	40162157	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr20:40162157T>C	ENST00000373233.3	-	3	263	c.86A>G	c.(85-87)aAt>aGt	p.N29S	CHD6_ENST00000309279.7_Missense_Mutation_p.N29S|CHD6_ENST00000373222.3_Missense_Mutation_p.N64S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	29	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.N29S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTAGTCAAAATTGACAGAGGC	0.388																																						ENST00000373233.3																			1	Substitution - Missense(1)	p.N29S(1)	prostate(1)	breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(85-87)aAt>aGt		chromodomain helicase DNA binding protein 6							59.0	59.0	59.0					20																	40162157		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40162157T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.86A>G	20.37:g.40162157T>C	ENSP00000362330:p.Asn29Ser					CHD6_ENST00000373222.3_Missense_Mutation_p.N64S|CHD6_ENST00000309279.7_Missense_Mutation_p.N29S	p.N29S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			3	263	-		Myeloproliferative disorder(115;0.00425)	29					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.86A>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.784554	0.31593	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	D;D;T	0.94457	-1.93;-3.43;-1.28	5.9	3.62	0.41486	.	0.299907	0.28927	N	0.013687	D	0.86802	0.6020	N	0.19112	0.55	0.28316	N	0.922455	B;B	0.29988	0.264;0.009	B;B	0.28011	0.085;0.006	T	0.74166	-0.3753	10	0.06757	T	0.87	-16.3239	12.3986	0.55399	0.0:0.0:0.5539:0.446	.	64;29	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	S	29;29;64;29	ENSP00000362330:N29S;ENSP00000308684:N29S;ENSP00000362319:N64S	ENSP00000308684:N29S	N	-	2	0	CHD6	39595571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.810000	0.27183	1.035000	0.39972	0.533000	0.62120	AAT		0.388	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			80	101	0	0	0	0.870114	0	80	101				
CNDP1	84735	broad.mit.edu	37	18	72228208	72228208	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:72228208G>A	ENST00000358821.3	+	4	649	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	CNDP1_ENST00000585136.1_Intron|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.G98S	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	141						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.G141S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGACCGGGGCGATGGGTG	0.622																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			1	Substitution - Missense(1)	p.G141S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(292-294)Ggc>Agc		carnosine dipeptidase 1 (metallopeptidase M20 family)							88.0	85.0	86.0					18																	72228208		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228208G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.421G>A	18.37:g.72228208G>A	ENSP00000351682:p.Gly141Ser					CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.G141S	p.G98S			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	358	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	141					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.292G>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	7.341	0.620983	0.14193	.	.	ENSG00000150656	ENST00000358821	T	0.48522	0.81	4.78	4.78	0.61160	.	0.245546	0.39909	N	0.001226	T	0.34542	0.0901	L	0.37561	1.115	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.11941	-1.0567	10	0.31617	T	0.26	-0.7162	7.8601	0.29506	0.0871:0.1643:0.7486:0.0	.	141	Q96KN2	CNDP1_HUMAN	S	141	ENSP00000351682:G141S	ENSP00000351682:G141S	G	+	1	0	CNDP1	70379188	0.932000	0.31603	0.013000	0.15412	0.002000	0.02628	4.223000	0.58587	2.203000	0.70933	0.655000	0.94253	GGC		0.622	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		87	132	0	0	0	0.870114	0	87	132				
ANKEF1	63926	broad.mit.edu	37	20	10026343	10026343	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr20:10026343G>A	ENST00000378380.3	+	5	1147	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R273Q	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	273							calcium ion binding (GO:0005509)	p.R273Q(1)									ATAGCTCAGCGAGGTAAAATT	0.408																																						ENST00000378380.3																			1	Substitution - Missense(1)	p.R273Q(1)	prostate(1)								c.(817-819)cGa>cAa		ankyrin repeat and EF-hand domain containing 1							84.0	83.0	83.0					20																	10026343		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10026343G>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.818G>A	20.37:g.10026343G>A	ENSP00000367631:p.Arg273Gln					SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R273Q|SNAP25-AS1_ENST00000603542.1_RNA	p.R273Q	NM_198798.1	NP_942093.1					5	1147	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.818G>A	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352161	0.95830	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.64618	-0.11;-0.11	5.97	5.97	0.96955	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66118	-0.6003	10	0.13108	T	0.6	-13.4612	20.4209	0.99038	0.0:0.0:1.0:0.0	.	273	Q9NU02	ANKR5_HUMAN	Q	273	ENSP00000367644:R273Q;ENSP00000367631:R273Q	ENSP00000367631:R273Q	R	+	2	0	ANKRD5	9974343	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.446000	0.90329	2.823000	0.97156	0.591000	0.81541	CGA		0.408	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		31	77	0	0	0	0.750413	0	31	77				
RPS9	6203	broad.mit.edu	37	19	54710365	54710365	+	Intron	SNP	A	A	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:54710365A>C	ENST00000302907.4	+	4	579				RPS9_ENST00000391753.2_Intron|RPS9_ENST00000441429.1_Missense_Mutation_p.T148P|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000391752.1_Intron|RPS9_ENST00000402367.1_Intron	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		ATCTTCCTCCACCTGCCCCTC	0.592																																						ENST00000441429.1																			0				NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20						c.(442-444)Acc>Ccc		ribosomal protein S9							17.0	18.0	18.0					19																	54710365		2203	4299	6502	SO:0001627	intron_variant	6203				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	g.chr19:54710365A>C	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.407+35A>C	19.37:g.54710365A>C						RPS9_ENST00000302907.4_Intron|RPS9_ENST00000391752.1_Intron|RPS9_ENST00000402367.1_Intron|RPS9_ENST00000391753.2_Intron|RPS9_ENST00000391751.3_Intron	p.T148P			P46781	RS9_HUMAN		GBM - Glioblastoma multiforme(193;0.18)	3	467	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		0			S4 RNA-binding.		A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	c.442A>C	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.767782	0.31320	.	.	ENSG00000170889	ENST00000441429	T	0.48522	0.81	4.7	0.0242	0.14140	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17715	-1.0360	7	.	.	.	.	2.3471	0.04274	0.1612:0.5289:0.1436:0.1663	.	148	C9JM19	.	P	148	ENSP00000414314:T148P	.	T	+	1	0	RPS9	59402177	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.559000	0.02162	0.016000	0.14998	-1.122000	0.02009	ACC		0.592	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013		9	12	0	0	0	0.457914	0	9	12				
MRPL20	55052	broad.mit.edu	37	1	1341203	1341203	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:1341203C>A	ENST00000344843.7	-	3	357	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	MRPL20_ENST00000482352.1_Missense_Mutation_p.G88W|MRPL20_ENST00000493287.1_5'UTR|RN7SL657P_ENST00000582431.1_RNA	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	88					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.G88W(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTAAATTCCCAATGAGCGCT	0.448																																						ENST00000482352.1																			1	Substitution - Missense(1)	p.G88W(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(262-264)Ggg>Tgg		mitochondrial ribosomal protein L20							172.0	169.0	170.0					1																	1341203		2203	4300	6503	SO:0001583	missense	55052						protein binding|rRNA binding	g.chr1:1341203C>A	AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"""Mitochondrial ribosomal proteins / large subunits"""	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.262G>T	1.37:g.1341203C>A	ENSP00000341082:p.Gly88Trp					MRPL20_ENST00000344843.7_Missense_Mutation_p.G88W|MRPL20_ENST00000493287.1_5'UTR	p.G88W			Q9BYC9	RM20_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	334	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	88					B2RE41|B7Z746	Missense_Mutation	SNP	ENST00000344843.7	37	c.262G>T	CCDS26.1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.419586	0.42918	.	.	ENSG00000242485	ENST00000344843	.	.	.	4.52	-3.74	0.04385	.	0.883737	0.10049	N	0.722523	T	0.41971	0.1182	L	0.53729	1.69	0.09310	N	1	D;P	0.71674	0.998;0.863	D;P	0.67382	0.951;0.703	T	0.32402	-0.9908	9	0.46703	T	0.11	2.1161	1.379	0.02226	0.1298:0.2004:0.2805:0.3894	.	88;88	B7Z746;Q9BYC9	.;RM20_HUMAN	W	88	.	ENSP00000341082:G88W	G	-	1	0	MRPL20	1331066	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.192000	0.09587	-0.575000	0.05982	0.542000	0.68232	GGG		0.448	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008139.1	NM_017971		13	289	1	0	0.000151284	0.435327	0.000172592	13	289				
ERMAP	114625	broad.mit.edu	37	1	43296646	43296646	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:43296646C>T	ENST00000372517.2	+	4	537	c.293C>T	c.(292-294)aCg>aTg	p.T98M	ERMAP_ENST00000328249.3_Missense_Mutation_p.T8M|ERMAP_ENST00000372514.3_Missense_Mutation_p.T98M|ERMAP_ENST00000487556.1_Intron	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	98	Ig-like V-type.					cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T98M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGGGGAGGACGGTGCTAGTG	0.562																																						ENST00000328249.3																			1	Substitution - Missense(1)	p.T98M(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(22-24)aCg>aTg		erythroblast membrane-associated protein (Scianna blood group)							135.0	116.0	122.0					1																	43296646		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43296646C>T	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.293C>T	1.37:g.43296646C>T	ENSP00000361595:p.Thr98Met					ERMAP_ENST00000372514.3_Missense_Mutation_p.T98M|ERMAP_ENST00000372517.2_Missense_Mutation_p.T98M|ERMAP_ENST00000487556.1_Intron	p.T8M			Q96PL5	ERMAP_HUMAN			1	1061	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	98					D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.23C>T	CCDS475.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756742	0.69648	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.28255	1.62;1.62;1.62	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.234460	0.29565	N	0.011795	T	0.62612	0.2442	M	0.91196	3.185	0.26422	N	0.976084	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.98	T	0.61710	-0.7007	10	0.87932	D	0	.	13.2768	0.60191	0.0:1.0:0.0:0.0	.	159;98	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	M	98;98;8	ENSP00000361595:T98M;ENSP00000361592:T98M;ENSP00000332439:T8M	ENSP00000332439:T8M	T	+	2	0	ERMAP	43069233	0.963000	0.33076	0.943000	0.38184	0.757000	0.42996	2.232000	0.43018	2.514000	0.84764	0.460000	0.39030	ACG		0.562	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		22	45	0	0	0	0.639603	0	22	45				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	123	0	0	0	0.150653	0	4	123				
TTN	7273	broad.mit.edu	37	2	179477937	179477937	+	Silent	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:179477937A>G	ENST00000591111.1	-	214	44900	c.44676T>C	c.(44674-44676)ccT>ccC	p.P14892P	TTN_ENST00000359218.5_Silent_p.P7593P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.P7468P|TTN_ENST00000342992.6_Silent_p.P13965P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.P16533P|TTN_ENST00000342175.6_Silent_p.P7660P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14892	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTGGTTTTCCAGGTCCAGCAA	0.338																																						ENST00000589042.1																			0				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						c.(49597-49599)ccT>ccC		titin							89.0	84.0	85.0					2																	179477937		1828	4079	5907	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477937A>G	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.44676T>C	2.37:g.179477937A>G						TTN_ENST00000359218.5_Silent_p.P7593P|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.P14892P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P7660P|TTN_ENST00000460472.2_Silent_p.P7468P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.P13965P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA	p.P16533P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		264	49823	-			14892			Fibronectin type-III 20.		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	Silent	SNP	ENST00000591111.1	37	c.49599T>C																																																																																					0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	86	0	0	0	0.115264	0	3	86				
TPR	7175	broad.mit.edu	37	1	186295344	186295344	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:186295344A>T	ENST00000367478.4	-	41	6209	c.5913T>A	c.(5911-5913)gaT>gaA	p.D1971E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1971	Poly-Asp.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.D1971E(2)|p.D1958E(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		catcatcatcatcttcctcat	0.423			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		3	Substitution - Missense(3)	p.D1971E(2)|p.D1958E(1)	prostate(3)	autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(5911-5913)gaT>gaA		translocated promoter region, nuclear basket protein							89.0	85.0	86.0					1																	186295344		2060	4205	6265	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186295344A>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5913T>A	1.37:g.186295344A>T	ENSP00000356448:p.Asp1971Glu						p.D1971E	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	41	6209	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1971			Poly-Asp.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.5913T>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.380356	0.00205	.	.	ENSG00000047410	ENST00000367478	T	0.29917	1.55	4.03	-8.06	0.01102	.	1.066870	0.07167	N	0.851712	T	0.12347	0.0300	N	0.25890	0.77	0.21355	N	0.999713	B	0.02656	0.0	B	0.01281	0.0	T	0.25502	-1.0130	10	0.05351	T	0.99	.	2.0739	0.03619	0.2947:0.0732:0.2235:0.4085	.	1971	P12270	TPR_HUMAN	E	1971	ENSP00000356448:D1971E	ENSP00000356448:D1971E	D	-	3	2	TPR	184561967	0.017000	0.18338	0.023000	0.16930	0.542000	0.35054	-2.198000	0.01239	-4.545000	0.00043	-2.200000	0.00306	GAT		0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		27	49	0	0	0	0.667858	0	27	49				
OR2C3	81472	broad.mit.edu	37	1	247695757	247695757	+	Silent	SNP	G	G	A	rs61746303|rs386641879	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:247695757G>A	ENST00000366487.3	-	2	418	c.57C>T	c.(55-57)tcC>tcT	p.S19S	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S19S(1)|p.S18S(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGGTCGTGTGGAGAAGCCCA	0.488													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		19865	0.0		0.0	False		,,,				2504	0.0					ENST00000366487.3																			2	Substitution - coding silent(2)	p.S19S(1)|p.S18S(1)	prostate(2)	breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(55-57)tcC>tcT		olfactory receptor, family 2, subfamily C, member 3		G		8,4398	2.1+/-5.4	0,8,2195	78.0	73.0	74.0		57	-1.9	0.2	1	dbSNP_129	74	0,8600		0,0,4300	no	coding-synonymous	OR2C3	NM_198074.4		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		19/321	247695757	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695757G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.57C>T	1.37:g.247695757G>A						GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	p.S19S	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	418	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	19					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.57C>T	CCDS1634.2																																																																																				0.488	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		46	87	0	0	0	0.870114	0	46	87				
SNHG14	104472715	broad.mit.edu	37	15	25326355	25326355	+	RNA	SNP	T	T	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr15:25326355T>G	ENST00000546682.1	+	0	55				SNORD116-14_ENST00000383894.1_RNA|SNORD116-13_ENST00000384408.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCAGAGGCTGTTGGGATCCTC	0.507																																						ENST00000546682.1																			0																																																			0							g.chr15:25326355T>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25326355T>G						SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	55	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.507	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			11	40	0	0	0	0.624587	0	11	40				
GPATCH1	55094	broad.mit.edu	37	19	33603475	33603475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:33603475C>A	ENST00000170564.2	+	13	2162	c.1848C>A	c.(1846-1848)gaC>gaA	p.D616E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	616					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.D616E(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCACCCTGACAAGCTTCTAT	0.413																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			1	Substitution - Missense(1)	p.D616E(1)	prostate(1)	breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1846-1848)gaC>gaA		G patch domain containing 1							152.0	136.0	142.0					19																	33603475		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33603475C>A	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1848C>A	19.37:g.33603475C>A	ENSP00000170564:p.Asp616Glu						p.D616E	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			13	2162	+	Esophageal squamous(110;0.137)		616					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1848C>A	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244556	0.39697	.	.	ENSG00000076650	ENST00000170564	T	0.34859	1.34	5.62	3.41	0.39046	.	0.181326	0.56097	D	0.000025	T	0.18882	0.0453	L	0.33093	0.98	0.80722	D	1	B	0.30542	0.284	B	0.25291	0.059	T	0.05321	-1.0892	10	0.06757	T	0.87	-27.0723	6.2077	0.20612	0.2838:0.5882:0.0:0.1279	.	616	Q9BRR8	GPTC1_HUMAN	E	616	ENSP00000170564:D616E	ENSP00000170564:D616E	D	+	3	2	GPATCH1	38295315	0.992000	0.36948	1.000000	0.80357	0.939000	0.58152	0.234000	0.17930	2.640000	0.89533	0.655000	0.94253	GAC		0.413	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		44	85	1	0	7.05121e-23	0.853193	8.7869e-23	44	85				
SYK	6850	broad.mit.edu	37	9	93637062	93637062	+	Missense_Mutation	SNP	C	C	T	rs369986984		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr9:93637062C>T	ENST00000375754.4	+	9	1260	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	SYK_ENST00000375746.1_Missense_Mutation_p.T371M|SYK_ENST00000375747.1_Missense_Mutation_p.T348M|SYK_ENST00000375751.4_Missense_Mutation_p.T348M	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.T348M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAGCTGCTGACGCTGGAAGAC	0.522			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		1	Substitution - Missense(1)	p.T348M(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(1111-1113)aCg>aTg		spleen tyrosine kinase		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	140.0	151.0	147.0		1043,1112,1043,1112	4.3	1.0	9		147	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	348/613,371/636,348/613,371/636	93637062	1,13005	2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93637062C>T	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1112C>T	9.37:g.93637062C>T	ENSP00000364907:p.Thr371Met					SYK_ENST00000375747.1_Missense_Mutation_p.T348M|SYK_ENST00000375751.4_Missense_Mutation_p.T348M|SYK_ENST00000375746.1_Missense_Mutation_p.T371M	p.T371M	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			9	1260	+			371			Protein kinase.			Missense_Mutation	SNP	ENST00000375754.4	37	c.1112C>T	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093564	0.56075	0.0	1.16E-4	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.74106	-0.81;-0.79;-0.79;-0.81	4.29	4.29	0.51040	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.186068	0.45867	D	0.000331	T	0.72630	0.3484	L	0.29908	0.895	0.53005	D	0.999969	D;D	0.55605	0.966;0.972	P;P	0.57371	0.723;0.819	T	0.68992	-0.5263	10	0.27785	T	0.31	.	11.8482	0.52397	0.0:0.9148:0.0:0.0851	.	348;371	P43405-2;P43405	.;KSYK_HUMAN	M	371;348;348;371	ENSP00000364907:T371M;ENSP00000364904:T348M;ENSP00000364899:T348M;ENSP00000364898:T371M	ENSP00000364898:T371M	T	+	2	0	SYK	92676883	0.012000	0.17670	0.998000	0.56505	0.911000	0.54048	1.075000	0.30716	2.387000	0.81309	0.655000	0.94253	ACG		0.522	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			13	315	0	0	0	0.479597	0	13	315				
ZNF223	7766	broad.mit.edu	37	19	44564709	44564709	+	Silent	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:44564709G>A	ENST00000434772.3	+	3	372	c.117G>A	c.(115-117)gaG>gaA	p.E39E	ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Silent_p.E39E|ZNF223_ENST00000591793.1_Silent_p.E149E	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E39E(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGATGCTGGAGAACTTCAGGA	0.532																																						ENST00000591793.1																			1	Substitution - coding silent(1)	p.E39E(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(445-447)gaG>gaA		zinc finger protein 223							230.0	212.0	218.0					19																	44564709		2203	4300	6503	SO:0001819	synonymous_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44564709G>A	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.117G>A	19.37:g.44564709G>A						ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Silent_p.E39E|ZNF223_ENST00000434772.3_Silent_p.E39E	p.E149E			Q9UK11	ZN223_HUMAN			5	530	+		Prostate(69;0.0352)	39					Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	c.447G>A	CCDS12635.1																																																																																				0.532	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			97	191	0	0	0	0.870114	0	97	191				
STAT4	6775	broad.mit.edu	37	2	191922752	191922752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:191922752G>A	ENST00000392320.2	-	13	1512	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	STAT4_ENST00000358470.4_Nonsense_Mutation_p.R400*	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	400					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R400*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAAATGTCGAAATTCTACT	0.363																																						ENST00000392320.2																			1	Substitution - Nonsense(1)	p.R400*(1)	prostate(1)	breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1198-1200)Cga>Tga		signal transducer and activator of transcription 4							76.0	76.0	76.0					2																	191922752		2203	4300	6503	SO:0001587	stop_gained	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191922752G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1198C>T	2.37:g.191922752G>A	ENSP00000376134:p.Arg400*					STAT4_ENST00000358470.4_Nonsense_Mutation_p.R400*	p.R400*	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		13	1512	-			400					Q96NZ6	Nonsense_Mutation	SNP	ENST00000392320.2	37	c.1198C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	39	7.638565	0.98406	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	.	.	.	5.38	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.9759	13.3789	0.60757	0.0:0.0:0.5118:0.4882	.	.	.	.	X	400	.	ENSP00000351255:R400X	R	-	1	2	STAT4	191630997	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.817000	0.48034	0.666000	0.31087	0.585000	0.79938	CGA		0.363	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		45	78	0	0	0	0.859065	0	45	78				
MTUS2	23281	broad.mit.edu	37	13	29599666	29599666	+	Silent	SNP	C	C	T	rs373502341		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:29599666C>T	ENST00000431530.3	+	1	919	c.861C>T	c.(859-861)tcC>tcT	p.S287S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	277						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.S287S(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATCACATTCCGCCCATCCAG	0.517																																						ENST00000431530.3																			2	Substitution - coding silent(2)	p.S287S(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(859-861)tcC>tcT		microtubule associated tumor suppressor candidate 2		C		0,4238		0,0,2119	42.0	43.0	43.0		861	-7.2	0.0	13		43	1,8485		0,1,4242	no	coding-synonymous	MTUS2	NM_001033602.2		0,1,6361	TT,TC,CC		0.0118,0.0,0.0079		287/1380	29599666	1,12723	2119	4243	6362	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599666C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.861C>T	13.37:g.29599666C>T							p.S287S	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	919	+			277					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.861C>T	CCDS45022.1																																																																																				0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		12	23	0	0	0	0.387290	0	12	23				
CCNF	899	broad.mit.edu	37	16	2506607	2506607	+	Silent	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:2506607C>T	ENST00000397066.4	+	17	2035	c.1947C>T	c.(1945-1947)tgC>tgT	p.C649C	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	649	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.C649C(3)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				AACAGCATTGCTGCCAGGAAT	0.607																																						ENST00000397066.4																			3	Substitution - coding silent(3)	p.C649C(3)	prostate(3)	breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1945-1947)tgC>tgT		cyclin F							66.0	60.0	62.0					16																	2506607		2198	4300	6498	SO:0001819	synonymous_variant	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2506607C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1947C>T	16.37:g.2506607C>T						RP11-715J22.4_ENST00000566085.1_lincRNA	p.C649C	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			17	2035	+		Ovarian(90;0.17)	649			PEST.		B2R8H3|Q96EG9	Silent	SNP	ENST00000397066.4	37	c.1947C>T	CCDS10467.1																																																																																				0.607	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		25	42	0	0	0	0.693898	0	25	42				
PCDHB5	26167	broad.mit.edu	37	5	140515710	140515710	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140515710G>A	ENST00000231134.5	+	1	911	c.694G>A	c.(694-696)Gtc>Atc	p.V232I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	232	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V232I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCATTGTCGTCTTGGATAA	0.552																																						ENST00000231134.5																			1	Substitution - Missense(1)	p.V232I(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(694-696)Gtc>Atc									129.0	143.0	138.0					5																	140515710		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515710G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.694G>A	5.37:g.140515710G>A	ENSP00000231134:p.Val232Ile						p.V232I	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	911	+			232			Cadherin 2.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.694G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751781	0.31046	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.61510	0.1	5.37	3.55	0.40652	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.49490	0.1560	L	0.46741	1.465	0.09310	N	1	B	0.32324	0.364	B	0.33254	0.16	T	0.42666	-0.9438	9	0.44086	T	0.13	.	8.9877	0.36003	0.328:0.0:0.672:0.0	.	232	Q9Y5E4	PCDB5_HUMAN	I	232;16	ENSP00000231134:V232I	ENSP00000231134:V232I	V	+	1	0	PCDHB5	140495894	0.998000	0.40836	0.994000	0.49952	0.867000	0.49689	2.645000	0.46621	1.411000	0.46957	0.555000	0.69702	GTC		0.552	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		33	433	0	0	0	0.740014	0	33	433				
NEK1	4750	broad.mit.edu	37	4	170458976	170458976	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:170458976C>T	ENST00000439128.2	-	18	2289	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q|NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	550					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R550Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCCTTCGGCTCGAGCTTTATT	0.383																																						ENST00000439128.2																			2	Substitution - Missense(2)	p.R550Q(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1648-1650)cGa>cAa		NIMA-related kinase 1							260.0	249.0	252.0					4																	170458976		1854	4090	5944	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170458976C>T	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1649G>A	4.37:g.170458976C>T	ENSP00000408020:p.Arg550Gln					NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q|NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q|NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q	p.R550Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	18	2289	-		Prostate(90;0.00601)|Renal(120;0.0183)	550					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1649G>A	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057485	0.93846	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;D;T;T;T	0.85258	-1.0;-1.96;-0.74;-1.39;-0.74	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000049	D	0.92179	0.7520	M	0.71581	2.175	0.58432	D	0.999999	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;0.999;1.0;0.999;0.999	D	0.91262	0.5037	10	0.48119	T	0.1	.	19.6896	0.95993	0.0:1.0:0.0:0.0	.	481;506;550;506;550	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	Q	550;506;506;550;481	ENSP00000408020:R550Q;ENSP00000423332:R506Q;ENSP00000427653:R506Q;ENSP00000424757:R550Q;ENSP00000424938:R481Q	ENSP00000408020:R550Q	R	-	2	0	NEK1	170695551	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	6.040000	0.70980	2.752000	0.94435	0.585000	0.79938	CGA		0.383	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			11	503	0	0	0	0.361761	0	11	503				
CHAMP1	283489	broad.mit.edu	37	13	115090481	115090481	+	Silent	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:115090481G>A	ENST00000361283.1	+	3	1473	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	388	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E388E(1)									CATCTCCTGAGTCATGGAAGT	0.542																																						ENST00000361283.1																			1	Substitution - coding silent(1)	p.E388E(1)	prostate(1)								c.(1162-1164)gaG>gaA		chromosome alignment maintaining phosphoprotein 1							109.0	114.0	112.0					13																	115090481		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090481G>A	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1164G>A	13.37:g.115090481G>A							p.E388E	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1473	+			388			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.1164G>A	CCDS9545.1																																																																																				0.542	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		13	231	0	0	0	0.411799	0	13	231				
FLG	2312	broad.mit.edu	37	1	152284306	152284306	+	Missense_Mutation	SNP	G	G	A	rs193210331	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:152284306G>A	ENST00000368799.1	-	3	3091	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1019	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A1019V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGATGACGCAGCCTGTCC	0.582									Ichthyosis				G|||	2	0.000399361	0.0	0.0	5008	,	,		20915	0.001		0.001	False		,,,				2504	0.0					ENST00000368799.1																			1	Substitution - Missense(1)	p.A1019V(1)	prostate(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3055-3057)gCg>gTg		filaggrin		G	VAL/ALA	0,4406		0,0,2203	340.0	339.0	340.0		3056	-6.8	0.0	1		340	3,8597	3.7+/-12.6	0,3,4297	no	missense	FLG	NM_002016.1	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	1019/4062	152284306	3,13003	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284306G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3056C>T	1.37:g.152284306G>A	ENSP00000357789:p.Ala1019Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A1019V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3091	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1019			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3056C>T	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.401	0.632851	0.14322	0.0	3.49E-4	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00816	5.66	3.39	-6.78	0.01721	.	.	.	.	.	T	0.00300	0.0009	L	0.59912	1.85	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45804	-0.9236	9	0.21540	T	0.41	.	0.8053	0.01083	0.3028:0.1557:0.3529:0.1886	.	1019	P20930	FILA_HUMAN	V	1019;226	ENSP00000357789:A1019V	ENSP00000357789:A1019V	A	-	2	0	FLG	150550930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.451000	0.00466	-0.993000	0.03467	-2.367000	0.00236	GCG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		288	577	0	0	0	0.870114	0	288	577				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	115	0	0	0	0.184627	0	5	115				
POTEC	388468	broad.mit.edu	37	18	14542693	14542693	+	Silent	SNP	C	C	T	rs371316587		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:14542693C>T	ENST00000358970.5	-	1	452	c.453G>A	c.(451-453)aaG>aaA	p.K151K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	151								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTCTGGGGACCTTACCCCACC	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.K151K(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(451-453)aaG>aaA		POTE ankyrin domain family, member C							172.0	158.0	163.0					18																	14542693		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542693C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.453G>A	18.37:g.14542693C>T						POTEC_ENST00000389891.4_5'UTR	p.K151K	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	452	-			151						Silent	SNP	ENST00000358970.5	37	c.453G>A	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	241	0	0	0	0.307466	0	5	241				
PDE8B	8622	broad.mit.edu	37	5	76709105	76709105	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:76709105G>A	ENST00000264917.5	+	17	1927	c.1882G>A	c.(1882-1884)Gct>Act	p.A628T	PDE8B_ENST00000333194.4_Missense_Mutation_p.A573T|PDE8B_ENST00000340978.3_Missense_Mutation_p.A581T|PDE8B_ENST00000342343.4_Missense_Mutation_p.A608T|PDE8B_ENST00000346042.3_Missense_Mutation_p.A531T|PDE8B_ENST00000505283.1_Missense_Mutation_p.A93T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	628	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A628T(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GCACGCCACCGCTTTCTTTCT	0.473																																						ENST00000264917.5																		GMDS/PDE8B(2)	1	Substitution - Missense(1)	p.A628T(1)	prostate(1)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1882-1884)Gct>Act		phosphodiesterase 8B							128.0	116.0	120.0					5																	76709105		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76709105G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1882G>A	5.37:g.76709105G>A	ENSP00000264917:p.Ala628Thr					PDE8B_ENST00000333194.4_Missense_Mutation_p.A573T|PDE8B_ENST00000505283.1_Missense_Mutation_p.A93T|PDE8B_ENST00000340978.3_Missense_Mutation_p.A581T|PDE8B_ENST00000346042.3_Missense_Mutation_p.A531T|PDE8B_ENST00000342343.4_Missense_Mutation_p.A608T	p.A628T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	17	1927	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	628			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1882G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053528	0.93793	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.59	5.59	0.84812	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	M	0.79123	2.44	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	0.87578	0.992;0.997;0.994;0.997;0.998	D	0.90697	0.4617	10	0.66056	D	0.02	.	19.5754	0.95441	0.0:0.0:1.0:0.0	.	531;581;573;608;628	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	T	581;531;628;608;573;93	ENSP00000345446:A581T;ENSP00000330428:A531T;ENSP00000264917:A628T;ENSP00000345646:A608T;ENSP00000331336:A573T;ENSP00000423461:A93T	ENSP00000264917:A628T	A	+	1	0	PDE8B	76744861	1.000000	0.71417	0.910000	0.35882	0.718000	0.41266	9.804000	0.99143	2.620000	0.88729	0.561000	0.74099	GCT		0.473	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		34	157	0	0	0	0.804634	0	34	157				
TNIP3	79931	broad.mit.edu	37	4	122063932	122063932	+	Splice_Site	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:122063932C>A	ENST00000509841.1	-	11	1045		c.e11-1		TNIP3_ENST00000057513.3_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000454328.1_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.?(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGCTTTTATCTAAAGACAAA	0.338																																						ENST00000454328.1																			1	Unknown(1)	p.?(1)	prostate(1)	NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.e10-1		TNFAIP3 interacting protein 3							136.0	139.0	138.0					4																	122063932		2203	4300	6503	SO:0001630	splice_region_variant	79931							g.chr4:122063932C>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.967-1G>T	4.37:g.122063932C>A						TNIP3_ENST00000509841.1_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000057513.3_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site				Q96KP6	TNIP3_HUMAN			10	963	-									Splice_Site	SNP	ENST00000509841.1	37		CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443662	0.43429	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNIP3	122283382	1.000000	0.71417	0.991000	0.47740	0.614000	0.37383	2.262000	0.43285	2.611000	0.88343	0.650000	0.86243	.		0.338	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873	Intron	34	163	1	0	2.47316e-13	0.779181	2.94597e-13	34	163				
OR52R1	119695	broad.mit.edu	37	11	4825344	4825344	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:4825344C>A	ENST00000356069.2	-	1	266	c.267G>T	c.(265-267)tgG>tgT	p.W89C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.W168C	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W168C(1)|p.W88C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGCATGAAACCAGAATATGG	0.527																																						ENST00000380382.1																			2	Substitution - Missense(2)	p.W168C(1)|p.W88C(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(502-504)tgG>tgT		olfactory receptor, family 52, subfamily R, member 1							146.0	130.0	135.0					11																	4825344		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825344C>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.267G>T	11.37:g.4825344C>A	ENSP00000348368:p.Trp89Cys					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.W89C	p.W168C			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	503	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	89					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.504G>T	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839804	0.51057	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00392	7.58;7.58	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000271	T	0.01222	0.0040	M	0.83692	2.655	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.65331	-0.6194	10	0.87932	D	0	.	18.2503	0.90000	0.0:1.0:0.0:0.0	.	89	Q8NGF1	O52R1_HUMAN	C	89;168	ENSP00000348368:W89C;ENSP00000369742:W168C	ENSP00000348368:W89C	W	-	3	0	OR52R1	4781920	0.809000	0.29036	1.000000	0.80357	0.914000	0.54420	1.433000	0.34947	2.893000	0.99171	0.638000	0.83543	TGG		0.527	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		31	56	1	0	3.99451e-17	0.740014	4.90235e-17	31	56				
HNF1A	6927	broad.mit.edu	37	12	121437365	121437365	+	Missense_Mutation	SNP	C	C	T	rs144674840		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:121437365C>T	ENST00000257555.6	+	9	1929	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L|HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L|RP11-216P16.2_ENST00000606238.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	568					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P568L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCACGTCCCCAGCCAGGAC	0.687									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			2	Substitution - Missense(2)	p.P568L(2)	prostate(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1702-1704)cCc>cTc		HNF1 homeobox A		C	LEU/PRO	1,4399		0,1,2199	23.0	23.0	23.0		1703	5.7	1.0	12	dbSNP_134	23	0,8594		0,0,4297	no	missense	HNF1A	NM_000545.5	98	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	568/632	121437365	1,12993	2200	4297	6497	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121437365C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1703C>T	12.37:g.121437365C>T	ENSP00000257555:p.Pro568Leu					HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L|HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L	p.P568L			P20823	HNF1A_HUMAN			9	1929	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		568					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.1703C>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073371	0.55646	2.27E-4	0.0	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.90844	-2.74;-2.74;-2.74	5.7	5.7	0.88788	Hepatocyte nuclear factor 1, alpha isoform C-terminal (1);	0.207712	0.33199	N	0.005175	T	0.81288	0.4791	N	0.19112	0.55	0.80722	D	1	B;B	0.34181	0.386;0.44	B;B	0.29077	0.059;0.098	T	0.78663	-0.2116	10	0.18276	T	0.48	-28.5995	12.4732	0.55799	0.178:0.822:0.0:0.0	.	575;568	F5H0K0;P20823	.;HNF1A_HUMAN	L	568;460;568;389;599;575	ENSP00000257555:P568L;ENSP00000443112:P599L;ENSP00000438804:P575L	ENSP00000257555:P568L	P	+	2	0	HNF1A	119921748	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.832000	0.48152	2.685000	0.91497	0.650000	0.86243	CCC		0.687	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		14	15	0	0	0	0.457914	0	14	15				
PCDHA3	56145	broad.mit.edu	37	5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140180975C>T	ENST00000522353.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(193-195)Cgg>Tgg									57.0	70.0	66.0					5																	140180975		2203	4294	6497	SO:0001583	missense	0							g.chr5:140180975C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.193C>T	5.37:g.140180975C>T	ENSP00000429808:p.Arg65Trp					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W	p.R65W	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.193C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.980912	0.74474	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.38887	1.11;1.11	4.48	3.58	0.41010	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.37955	U	0.001876	T	0.78130	0.4235	H	0.99117	4.435	0.40488	D	0.980514	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.87025	0.2131	10	0.87932	D	0	.	13.635	0.62217	0.1614:0.8386:0.0:0.0	.	65;65	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	W	65	ENSP00000429808:R65W;ENSP00000434086:R65W	ENSP00000429808:R65W	R	+	1	2	PCDHA3	140161159	0.994000	0.37717	1.000000	0.80357	0.978000	0.69477	3.208000	0.51114	0.963000	0.38082	0.586000	0.80456	CGG		0.617	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	231	0	0	0	0.184627	0	5	231				
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	GGGACTGGGGCCGGGACCGGGACC	-	rs66614970|rs6667693|rs537852372|rs61775088|rs61775087|rs151149897|rs61775086|rs61775085|rs61775084|rs1134584|rs568953708	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	ENST00000374222.1	-	16	1974_1997	c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	c.(1510-1533)ggtcccggtcccggccccagtcccdel	p.GPGPGPSP504del	UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000314675.7_In_Frame_Del_p.GPGPGPSP384del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del			Q5T124	UBX11_HUMAN	UBX domain protein 11	504	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gtccaggacagggactggggccgggaccgggaccgggactgggg	0.714																																						ENST00000314675.7																			2	Insertion - In frame(1)|Deletion - In frame(1)	p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)	upper_aerodigestive_tract(1)|ovary(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1150-1173)del		UBX domain protein 11			,,	1160,368		529,102,133					,,	-2.8	0.0		dbSNP_134	34	3900,354		1880,140,107	no	coding,coding,coding	UBXN11	NM_183008.2,NM_145345.2,NM_001077262.1	,,	2409,242,240	A1A1,A1R,RR		8.3216,24.0838,12.487	,,	,,		5060,722				SO:0001651	inframe_deletion	91544					cytoplasm|cytoskeleton		g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	1.37:g.26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	ENSP00000363339:p.Gly504_Pro511del					UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del	p.GPGPGPSP384del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1229_1252	-			504					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	In_Frame_Del	DEL	ENST00000374222.1	37	c.1150_1173delGGTCCCGGTCCCGGCCCCAGTCCC	CCDS41288.1																																																																																				0.714	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		9	63						9	63	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:39799059_39799060insG	ENST00000372915.3	+	36	6901_6902	c.6814_6815insG	c.(6814-6816)aggfs	p.R2272fs	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.R2267fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					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)			AGATAGTGGCAGGGAAATTTTT	0.391																																						ENST00000564288.1																			0				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						c.(6799-6801)ggafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799059_39799060insG	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.6817dupG	1.37:g.39799062_39799062dupG	ENSP00000362006:p.Arg2272fs					MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron	p.G2267fs			Q9UPN3	MACF1_HUMAN	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)		37	7576_7577	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2272					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.6799_6800insG																																																																																					0.391	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		10	197						10	197	---	---	---	---
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:137680780_137680781insG	ENST00000239906.5	+	4	831_832	c.403_404insG	c.(403-405)cggfs	p.R135fs	FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.R135fs|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(403-405)gccfs		family with sequence similarity 53, member C																																				SO:0001589	frameshift_variant	51307							g.chr5:137680780_137680781insG	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.405dupG	5.37:g.137680782_137680782dupG	ENSP00000239906:p.Arg135fs					FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.A135fs|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR	p.A135fs	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	831_832	+			135					B2RDJ5|D3DQB9	Frame_Shift_Ins	INS	ENST00000239906.5	37	c.403_404insG	CCDS4204.1																																																																																				0.683	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		10	178						10	178	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	A	-	rs200957067		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr6:100382358delA	ENST00000281806.2	-	5	937	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_ENST00000369212.2_Frame_Shift_Del_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343																																						ENST00000281806.2																			1	Deletion - Frameshift(1)	p.F208fs*5(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(622-624)tcfs		melanin-concentrating hormone receptor 2			,	6,4258		0,6,2126	84.0	84.0	84.0		,	2.9	1.0	6		86	2,8246		0,2,4122	no	frameshift,frameshift	MCHR2	NM_032503.2,NM_001040179.1	,	0,8,6248	A1A1,A1R,RR		0.0242,0.1407,0.0639	,	,	100382358	8,12504	2203	4297	6500	SO:0001589	frameshift_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382358delA	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.623delT	6.37:g.100382358delA	ENSP00000281806:p.Phe208fs					MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs	p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	937	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	208					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Frame_Shift_Del	DEL	ENST00000281806.2	37	c.623delT	CCDS5044.1																																																																																				0.343	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		7	198						7	198	---	---	---	---
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444|rs386728346|rs62636531	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)tgcagccccdel	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.MQ3del	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(625-633)del		outer dense fiber of sperm tails 1																																				SO:0001651	inframe_deletion	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103572984_103572992delTGCAGCCCC	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.625_633delTGCAGCCCC	8.37:g.103572993_103573001delTGCAGCCCC	ENSP00000285402:p.Cys215_Pro217del					ODF1_ENST00000518835.1_Splice_Site_p.3_splice	p.CSP215del	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		2	781_789	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		215			C-X-P repeat region.		Q3SX72	In_Frame_Del	DEL	ENST00000285402.3	37	c.625_633delTGCAGCCCC	CCDS6293.1																																																																																				0.584	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			17	102						17	102	---	---	---	---
LINC01591	286094	broad.mit.edu	37	8	136268296	136268297	+	lincRNA	INS	-	-	T	rs555967266|rs59901276	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:136268296_136268297insT	ENST00000522279.1	+	0	384					NR_026706.1																						CCtttttttcctttttttttgc	0.426													?|TTTTTTTTT|TTTTTTTTTT|unsure	127	0.0253594	0.0862	0.0115	5008	,	,		18375	0.0		0.0	False		,,,				2504	0.0051					ENST00000522279.1																			0																																																			0							g.chr8:136268296_136268297insT																													8.37:g.136268305_136268305dupT								NR_026706.1						0	384	+									RNA	INS	ENST00000522279.1	37																																																																																						0.426	RP11-452N4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378292.1			2	4						2	4	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:32077916_32077917insTTT	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		ATGGAAAACGGTTATTTTTTTG	0.421																																						ENST00000566806.1																			0																																																			0							g.chr16:32077916_32077917insTTT	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077916_32077917insTTT														0	499	-									RNA	INS	ENST00000354689.6	37																																																																																						0.421	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			4	7						4	7	---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19153404	19153406	+	In_Frame_Del	DEL	ATC	ATC	-	rs557869178		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:19153404_19153406delATC	ENST00000269214.5	-	4	2336_2338	c.1399_1401delGAT	c.(1399-1401)gatdel	p.D467del		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	467					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTACTGTAATATCATTAATTTTC	0.33																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1399-1401)del		establishment of sister chromatid cohesion N-acetyltransferase 1																																				SO:0001651	inframe_deletion	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153404_19153406delATC	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1399_1401delGAT	18.37:g.19153404_19153406delATC	ENSP00000269214:p.Asp467del						p.D467del	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	2336_2338	-			467					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	In_Frame_Del	DEL	ENST00000269214.5	37	c.1399_1401delGAT	CCDS32800.1																																																																																				0.330	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		57	126						57	126	---	---	---	---
