#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
ATE1	11101	broad.mit.edu	37	10	123658410	123658410	+	Intron	SNP	G	G	C			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr10:123658410G>C	ENST00000224652.6	-	7	1028				ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Silent_p.V289V|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369043.3_Silent_p.V296V|ATE1_ENST00000369040.3_Silent_p.V200V|ATE1_ENST00000535655.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CTTGATACTTGACATACAAAG	0.443																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(886-888)gtC>gtG		arginyltransferase 1							197.0	163.0	175.0					10																	123658410		2203	4300	6503	SO:0001627	intron_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123658410G>C	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.942+970C>G	10.37:g.123658410G>C						ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_Silent_p.V200V|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Silent_p.V289V	p.V296V	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			7	974	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	296					O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	c.888C>G	CCDS31300.1																																																																																				0.443	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		9	29	0	0	0	1	0	9	29				
KCTD8	386617	broad.mit.edu	37	4	44449755	44449755	+	Silent	SNP	C	C	T			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr4:44449755C>T	ENST00000360029.3	-	1	1069	c.786G>A	c.(784-786)ccG>ccA	p.P262P	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	262					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGTACTTCTCCGGCTGCCGGT	0.647										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(784-786)ccG>ccA		potassium channel tetramerization domain containing 8							42.0	37.0	39.0					4																	44449755		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449755C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.786G>A	4.37:g.44449755C>T		HNSCC(17;0.042)					p.P262P	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	1069	-			262					A2RU39	Silent	SNP	ENST00000360029.3	37	c.786G>A	CCDS3467.1																																																																																				0.647	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			9	36	0	0	0	1	0	9	36				
KCNB1	3745	broad.mit.edu	37	20	48098528	48098528	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr20:48098528C>T	ENST00000371741.4	-	1	656	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	164					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CACGTGTTATCGAACTCCTCG	0.592																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(490-492)Gat>Aat		potassium voltage-gated channel, Shab-related subfamily, member 1							188.0	158.0	168.0					20																	48098528		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098528C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.490G>A	20.37:g.48098528C>T	ENSP00000360806:p.Asp164Asn						p.D164N	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	656	-			164					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.490G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683700	0.68157	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96619	-4.07	5.15	5.15	0.70609	.	0.109655	0.64402	D	0.000018	D	0.96821	0.8962	L	0.59436	1.845	0.54753	D	0.999988	D	0.61080	0.989	P	0.55055	0.767	D	0.96807	0.9594	10	0.54805	T	0.06	.	18.4287	0.90618	0.0:1.0:0.0:0.0	.	164	Q14721	KCNB1_HUMAN	N	164;119	ENSP00000360806:D164N	ENSP00000360806:D164N	D	-	1	0	KCNB1	47531935	1.000000	0.71417	0.998000	0.56505	0.561000	0.35649	5.780000	0.68956	2.676000	0.91093	0.563000	0.77884	GAT		0.592	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		12	51	0	0	0	1	0	12	51				
HSPB2	3316	broad.mit.edu	37	11	111784196	111784196	+	Silent	SNP	A	A	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:111784196A>G	ENST00000304298.3	+	2	714	c.126A>G	c.(124-126)acA>acG	p.T42T	CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000531198.1_5'Flank|CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|HSPB2_ENST00000537382.1_Silent_p.T42T	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	42					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TGACCCCCACACTCTACCATG	0.637																																						ENST00000304298.3																			0				large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(124-126)acA>acG		heat shock 27kDa protein 2							158.0	168.0	165.0					11																	111784196		2201	4297	6498	SO:0001819	synonymous_variant	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784196A>G	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.126A>G	11.37:g.111784196A>G						CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Silent_p.T42T|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533475.1_Intron	p.T42T	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	714	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	42					Q6I9U7	Silent	SNP	ENST00000304298.3	37	c.126A>G	CCDS8352.1																																																																																				0.637	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			30	108	0	0	0	1	0	30	108				
NAV3	89795	broad.mit.edu	37	12	78400952	78400952	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr12:78400952G>A	ENST00000397909.2	+	8	1807	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N	NAV3_ENST00000228327.6_Missense_Mutation_p.S545N|NAV3_ENST00000266692.7_Missense_Mutation_p.S545N|NAV3_ENST00000536525.2_Missense_Mutation_p.S545N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	545						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCACCTGGCAGCACAGCAAGC	0.453										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1633-1635)aGc>aAc		neuron navigator 3							63.0	64.0	63.0					12																	78400952		1910	4126	6036	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400952G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1634G>A	12.37:g.78400952G>A	ENSP00000381007:p.Ser545Asn	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.S545N|NAV3_ENST00000536525.2_Missense_Mutation_p.S545N|NAV3_ENST00000228327.6_Missense_Mutation_p.S545N	p.S545N			Q8IVL0	NAV3_HUMAN			8	1807	+			545					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1634G>A		.	.	.	.	.	.	.	.	.	.	G	3.783	-0.045209	0.07452	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.29	1.31	0.21738	.	0.491667	0.16815	N	0.198409	T	0.10508	0.0257	L	0.47716	1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.31024	-0.9958	10	0.29301	T	0.29	-2.762	5.3022	0.15783	0.3138:0.135:0.5513:0.0	.	545;545	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	N	545	ENSP00000446628:S545N;ENSP00000446132:S545N;ENSP00000381007:S545N;ENSP00000228327:S545N;ENSP00000266692:S545N	ENSP00000228327:S545N	S	+	2	0	NAV3	76925083	0.000000	0.05858	0.003000	0.11579	0.986000	0.74619	0.261000	0.18442	-0.027000	0.13873	0.650000	0.86243	AGC		0.453	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		3	32	0	0	0	1	0	3	32				
MUC5B	727897	broad.mit.edu	37	11	1273662	1273662	+	Missense_Mutation	SNP	G	G	A	rs372995452	byFrequency	TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:1273662G>A	ENST00000529681.1	+	32	15011	c.14953G>A	c.(14953-14955)Gcc>Acc	p.A4985T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4988T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4985					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTCCAGGGCGCCTGTCCCAC	0.637													G|||	5	0.000998403	0.0	0.0	5008	,	,		15950	0.005		0.0	False		,,,				2504	0.0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14962-14964)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming							55.0	70.0	65.0					11																	1273662		2118	4216	6334	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1273662G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14953G>A	11.37:g.1273662G>A	ENSP00000436812:p.Ala4985Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4985T	p.A4988T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	32	15020	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4985					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14962G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	2.474	-0.321184	0.05386	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	4.63	-9.26	0.00662	.	.	.	.	.	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.49862	-0.8894	9	0.87932	D	0	.	7.927	0.29880	0.1514:0.3434:0.4375:0.0676	.	5307;4988	A7Y9J9;E9PBJ0	.;.	T	4985;4988;4929;4684	ENSP00000436812:A4985T;ENSP00000415793:A4988T	ENSP00000343037:A4929T	A	+	1	0	MUC5B	1230238	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-2.871000	0.00720	-3.543000	0.00144	-1.223000	0.01593	GCC		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	32	0	0	0	1	0	9	32				
ADAMTS19	171019	broad.mit.edu	37	5	128994429	128994429	+	Splice_Site	SNP	A	A	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:128994429A>G	ENST00000274487.4	+	15	2551	c.2406A>G	c.(2404-2406)gcA>gcG	p.A802A	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	802	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAGAGGAGCAGGTAATTTTT	0.313																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.e15+1		ADAM metallopeptidase with thrombospondin type 1 motif, 19							97.0	100.0	99.0					5																	128994429		2203	4300	6503	SO:0001630	splice_region_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128994429A>G	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2407+1A>G	5.37:g.128994429A>G						CTC-575N7.1_ENST00000503616.1_RNA	p.A802_splice	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	15	2551	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	802			Spacer.			Splice_Site	SNP	ENST00000274487.4	37	c.2407_splice	CCDS4146.1																																																																																				0.313	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	Silent	13	38	0	0	0	1	0	13	38				
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	rs397516897|rs121913364|rs121913226|rs121913377		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in CRC). {ECO:0000269|PubMed:12198537}.|K -> Q (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CATCGAGATTTCACTGTAGCT	0.368		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	58	Substitution - Missense(40)|Complex - deletion inframe(17)|Deletion - In frame(1)	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	thyroid(30)|skin(15)|large_intestine(5)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|lung(1)|NS(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1801-1803)Aaa>Gaa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						111.0	103.0	106.0					7																	140453134		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453134T>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1801A>G	7.37:g.140453134T>C	ENSP00000288602:p.Lys601Glu						p.K601E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1861	-	Melanoma(164;0.00956)		601		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1801A>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.454487|4.454487	0.84209|0.84209	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.82711|.	-1.64|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.54464|.	0.1860|.	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	P|.	0.42584|.	0.784|.	P|.	0.49922|.	0.626|.	T|.	0.51108|.	-0.8747|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	601|.	P15056|.	BRAF_HUMAN|.	E|W	601|208	ENSP00000288602:K601E|.	ENSP00000288602:K601E|.	K|X	-|-	1|3	0|0	BRAF|BRAF	140099603|140099603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	AAA|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	40	0	0	0	1	0	11	40				
CTCF	10664	broad.mit.edu	37	16	67645414	67645414	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr16:67645414G>C	ENST00000264010.4	+	3	1123	c.679G>C	c.(679-681)Gat>Cat	p.D227H	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	227					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTCTGTCTACGATTTTGAGGA	0.413																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(679-681)Gat>Cat		CCCTC-binding factor (zinc finger protein)							106.0	107.0	107.0					16																	67645414		2197	4300	6497	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645414G>C	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.679G>C	16.37:g.67645414G>C	ENSP00000264010:p.Asp227His					CTCF_ENST00000401394.1_Intron	p.D227H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	1123	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	227					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.679G>C	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043672	0.75732	.	.	ENSG00000102974	ENST00000264010	T	0.09723	2.95	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.21062	0.0507	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04140	-1.0974	10	0.30078	T	0.28	-4.1407	19.5916	0.95514	0.0:0.0:1.0:0.0	.	227	P49711	CTCF_HUMAN	H	227	ENSP00000264010:D227H	ENSP00000264010:D227H	D	+	1	0	CTCF	66202915	1.000000	0.71417	0.954000	0.39281	0.970000	0.65996	9.411000	0.97342	2.861000	0.98227	0.655000	0.94253	GAT		0.413	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		13	38	0	0	0	1	0	13	38				
ARL13B	200894	broad.mit.edu	37	3	93769715	93769715	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr3:93769715C>G	ENST00000394222.3	+	9	1464	c.1189C>G	c.(1189-1191)Ctt>Gtt	p.L397V	DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000303097.7_Missense_Mutation_p.L290V|ARL13B_ENST00000539730.1_Missense_Mutation_p.L118V|ARL13B_ENST00000471138.1_Missense_Mutation_p.L397V|ARL13B_ENST00000535334.1_Missense_Mutation_p.L294V	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	397	Pro-rich.				cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						ACTTGAGCCTCTTGGTGAAAC	0.338																																						ENST00000535334.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						c.(880-882)Ctt>Gtt		ADP-ribosylation factor-like 13B							91.0	92.0	92.0					3																	93769715		2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93769715C>G	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1189C>G	3.37:g.93769715C>G	ENSP00000377769:p.Leu397Val					DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000394222.3_Missense_Mutation_p.L397V|ARL13B_ENST00000303097.7_Missense_Mutation_p.L290V|ARL13B_ENST00000471138.1_Missense_Mutation_p.L397V|ARL13B_ENST00000539730.1_Missense_Mutation_p.L118V	p.L294V	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN			8	1403	+			397					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.880C>G	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208435	0.79240	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138;ENST00000539730	T;T;T;T;T	0.74315	0.99;-0.83;-0.49;-0.49;0.11	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.996;0.973;0.997;0.939	D	0.87152	0.2209	10	0.87932	D	0	-6.8424	18.0865	0.89458	0.0:1.0:0.0:0.0	.	294;397;290;397	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	V	294;290;397;397;118	ENSP00000445145:L294V;ENSP00000306225:L290V;ENSP00000377769:L397V;ENSP00000420780:L397V;ENSP00000437977:L118V	ENSP00000306225:L290V	L	+	1	0	ARL13B	95252405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.656000	0.67988	2.583000	0.87209	0.655000	0.94253	CTT		0.338	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		9	36	0	0	0	1	0	9	36				
OR12D3	81797	broad.mit.edu	37	6	29342301	29342301	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr6:29342301C>A	ENST00000396806.3	-	1	767	c.764G>T	c.(763-765)gGc>gTc	p.G255V	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						ATATGTGAAGCCCACAGGTCC	0.478																																						ENST00000396806.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						c.(763-765)gGc>gTc		olfactory receptor, family 12, subfamily D, member 3							73.0	68.0	70.0					6																	29342301		1510	2709	4219	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342301C>A		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.764G>T	6.37:g.29342301C>A	ENSP00000380023:p.Gly255Val					OR5V1_ENST00000377154.1_Intron	p.G255V	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN			1	767	-			255					A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.764G>T	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	c	0.026	-1.371530	0.01225	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.34472	1.36	4.19	-0.484	0.12071	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04998	0.0134	N	0.02697	-0.525	0.09310	N	0.999998	B	0.16166	0.016	B	0.16289	0.015	T	0.41574	-0.9501	9	0.35671	T	0.21	-1.7712	8.5676	0.33550	0.6465:0.2389:0.1146:0.0	.	255	Q9UGF7	O12D3_HUMAN	V	255	ENSP00000380023:G255V	ENSP00000366348:G255V	G	-	2	0	OR12D3	29450280	0.000000	0.05858	0.001000	0.08648	0.258000	0.26162	-0.190000	0.09615	0.037000	0.15575	-0.984000	0.02558	GGC		0.478	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			3	40	1	0	0.00024832	1	0.000254687	3	40				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	60	0	0	0	1	0	4	60				
NR1I3	9970	broad.mit.edu	37	1	161203129	161203129	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:161203129C>A	ENST00000367982.4	-	4	394		c.e4-1		NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000442691.2_Splice_Site|NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000367983.4_Splice_Site|NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000515452.1_Splice_Site|NR1I3_ENST00000367985.3_Splice_Site|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000479324.1_5'Flank			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GACAGTATCACTGTGCCAGGC	0.577																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.e4-1		nuclear receptor subfamily 1, group I, member 3							75.0	72.0	73.0					1																	161203129		2203	4300	6503	SO:0001630	splice_region_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161203129C>A	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.239-1G>T	1.37:g.161203129C>A						NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000515452.1_Splice_Site|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367982.4_Splice_Site|NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000367985.3_Splice_Site|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000442691.2_Splice_Site				Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	533	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)							E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Splice_Site	SNP	ENST00000367982.4	37		CCDS41430.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441459	0.63067	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	.	.	.	6.17	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6459	0.62281	0.0:0.9257:0.0:0.0743	.	.	.	.	.	-1	.	.	.	-	.	.	NR1I3	159469753	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.085000	0.50151	1.631000	0.50456	0.655000	0.94253	.		0.577	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		Intron	20	51	1	0	0.000132079	1	0.00013903	20	51				
RRP7A	27341	broad.mit.edu	37	22	42905063	42905063	+	IGR	SNP	G	G	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr22:42905063G>A	ENST00000323013.6	-	0	3801				SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						TCGTCAGCAGGGAGCTGTGTG	0.552																																						ENST00000359906.2																			0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like							168.0	117.0	134.0					22																	42905063		2203	4300	6503	SO:0001628	intergenic_variant	94009							g.chr22:42905063G>A	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891		22.37:g.42905063G>A								NR_027786.1						0	644	+								A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	RNA	SNP	ENST00000323013.6	37		CCDS14036.1																																																																																				0.552	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		9	36	0	0	0	1	0	9	36				
PCDHA7	56141	broad.mit.edu	37	5	140215501	140215501	+	Silent	SNP	C	C	T			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:140215501C>T	ENST00000525929.1	+	1	1533	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.H511H|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	511	Cadherin 5. {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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCAGTGCACGCGGAGAGCG	0.706																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1531-1533)caC>caT									68.0	73.0	71.0					5																	140215501		2203	4296	6499	SO:0001819	synonymous_variant	0							g.chr5:140215501C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1533C>T	5.37:g.140215501C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.H511H	p.H511H	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1533	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1533C>T	CCDS54918.1																																																																																				0.706	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		36	97	0	0	0	1	0	36	97				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000567960.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000564451.1_RNA								0	354	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	15	0	0	0	1	0	3	15				
TRIM42	287015	broad.mit.edu	37	3	140397286	140397286	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr3:140397286A>G	ENST00000286349.3	+	1	406	c.215A>G	c.(214-216)aAt>aGt	p.N72S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	72	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTTGGGCCAATGATCCCAAC	0.537																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(214-216)aAt>aGt		tripartite motif containing 42							119.0	96.0	104.0					3																	140397286		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397286A>G	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.215A>G	3.37:g.140397286A>G	ENSP00000286349:p.Asn72Ser						p.N72S	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			1	406	+			72			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.215A>G	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.815978	0.70912	.	.	ENSG00000155890	ENST00000286349	T	0.17054	2.3	5.66	5.66	0.87406	.	0.194905	0.35615	N	0.003084	T	0.26159	0.0638	N	0.19112	0.55	0.33408	D	0.578292	D	0.63880	0.993	D	0.72625	0.978	T	0.35475	-0.9787	10	0.62326	D	0.03	-25.7213	12.2977	0.54857	1.0:0.0:0.0:0.0	.	72	Q8IWZ5	TRI42_HUMAN	S	72	ENSP00000286349:N72S	ENSP00000286349:N72S	N	+	2	0	TRIM42	141879976	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	1.974000	0.40559	2.154000	0.67381	0.533000	0.62120	AAT		0.537	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		17	53	0	0	0	1	0	17	53				
BNIPL	149428	broad.mit.edu	37	1	151011474	151011474	+	Silent	SNP	G	G	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:151011474G>A	ENST00000368931.3	+	4	561	c.405G>A	c.(403-405)ctG>ctA	p.L135L	BNIPL_ENST00000295294.7_Silent_p.L53L	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	135					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGAGCAGCTGGACAGTGGAC	0.502																																						ENST00000295294.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10						c.(157-159)ctG>ctA		BCL2/adenovirus E1B 19kD interacting protein like							81.0	71.0	75.0					1																	151011474		2203	4300	6503	SO:0001819	synonymous_variant	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151011474G>A	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.405G>A	1.37:g.151011474G>A						BNIPL_ENST00000368931.3_Silent_p.L135L	p.L53L	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	768	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		135					Q6DK43|Q8TCY7|Q8WYG2	Silent	SNP	ENST00000368931.3	37	c.159G>A	CCDS978.2																																																																																				0.502	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		3	17	0	0	0	1	0	3	17				
GLTSCR1L	23506	broad.mit.edu	37	6	42832986	42832986	+	Missense_Mutation	SNP	C	C	G	rs373499042		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr6:42832986C>G	ENST00000314073.5	+	13	3218	c.3042C>G	c.(3040-3042)atC>atG	p.I1014M	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.I1014M			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	1014																	TTAAGAACATCTTGGAACTCA	0.493																																						ENST00000314073.5																			0											c.(3040-3042)atC>atG		GLTSCR1-like							52.0	58.0	56.0					6																	42832986		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832986C>G	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.3042C>G	6.37:g.42832986C>G	ENSP00000313933:p.Ile1014Met					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.I1014M	p.I1014M							13	3218	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.3042C>G	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990013	0.54041	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.55760	0.5;0.5	5.56	3.77	0.43336	.	0.082573	0.52532	D	0.000075	T	0.17704	0.0425	N	0.24115	0.695	0.35126	D	0.767498	B	0.24368	0.102	B	0.22152	0.038	T	0.08411	-1.0723	10	0.87932	D	0	-19.2535	3.4174	0.07381	0.1403:0.5766:0.1358:0.1473	.	1014	Q6AI39	K0240_HUMAN	M	1014	ENSP00000313933:I1014M;ENSP00000377723:I1014M	ENSP00000313933:I1014M	I	+	3	3	KIAA0240	42940964	0.982000	0.34865	1.000000	0.80357	0.997000	0.91878	0.017000	0.13399	1.346000	0.45694	0.655000	0.94253	ATC		0.493	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		11	31	0	0	0	1	0	11	31				
PCDHA8	56140	broad.mit.edu	37	5	140222414	140222414	+	Nonsense_Mutation	SNP	C	C	A	rs376777545		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:140222414C>A	ENST00000531613.1	+	1	1508	c.1508C>A	c.(1507-1509)tCg>tAg	p.S503*	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.S503*|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	503	Cadherin 5. {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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCTCGCTGTCGAGC	0.667																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1507-1509)tCg>tAg									50.0	56.0	54.0					5																	140222414		2194	4263	6457	SO:0001587	stop_gained	0							g.chr5:140222414C>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1508C>A	5.37:g.140222414C>A	ENSP00000434655:p.Ser503*					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.S503*	p.S503*	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+								B9EGT7|O75281	Nonsense_Mutation	SNP	ENST00000531613.1	37	c.1508C>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331333	0.60853	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	.	.	.	3.72	1.85	0.25348	.	1.572370	0.04649	U	0.406814	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	8.7965	0.34883	0.0:0.8118:0.0:0.1882	.	.	.	.	X	503	.	ENSP00000367363:S503X	S	+	2	0	PCDHA8	140202598	0.198000	0.23374	0.618000	0.29105	0.207000	0.24258	0.878000	0.28126	0.176000	0.19873	0.306000	0.20318	TCG		0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		18	61	1	0	2.4624e-09	1	2.81417e-09	18	61				
OR4K2	390431	broad.mit.edu	37	14	20344905	20344905	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr14:20344905T>G	ENST00000298642.2	+	1	515	c.479T>G	c.(478-480)gTc>gGc	p.V160G		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGAGTCAGGTCATATTTGCC	0.483																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(478-480)gTc>gGc		olfactory receptor, family 4, subfamily K, member 2							391.0	379.0	383.0					14																	20344905		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344905T>G		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.479T>G	14.37:g.20344905T>G	ENSP00000298642:p.Val160Gly						p.V160G	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	515	+	all_cancers(95;0.00108)		160					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.479T>G	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	15.48	2.844643	0.51164	.	.	ENSG00000165762	ENST00000298642	T	0.00207	8.55	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.152787	0.30177	N	0.010234	T	0.00412	0.0013	M	0.74647	2.275	0.25018	N	0.991354	D	0.59357	0.985	P	0.62560	0.904	T	0.44832	-0.9302	10	0.87932	D	0	.	7.5106	0.27571	0.0:0.094:0.0:0.906	.	160	Q8NGD2	OR4K2_HUMAN	G	160	ENSP00000298642:V160G	ENSP00000298642:V160G	V	+	2	0	OR4K2	19414745	0.034000	0.19679	1.000000	0.80357	0.878000	0.50629	1.460000	0.35244	2.148000	0.66965	0.460000	0.39030	GTC		0.483	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			50	237	0	0	0	1	0	50	237				
TTC7A	57217	broad.mit.edu	37	2	47278891	47278891	+	Missense_Mutation	SNP	G	G	A	rs532590528		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr2:47278891G>A	ENST00000319190.5	+	18	2392	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	TTC7A_ENST00000263737.6_Missense_Mutation_p.R321Q|TTC7A_ENST00000394850.2_Missense_Mutation_p.R699Q|TTC7A_ENST00000409245.1_Missense_Mutation_p.R641Q	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	675					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCAGGCTCCCGGCGGGCTTCG	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.0					ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(2023-2025)cGg>cAg		tetratricopeptide repeat domain 7A							48.0	51.0	50.0					2																	47278891		2172	4238	6410	SO:0001583	missense	57217						binding	g.chr2:47278891G>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2024G>A	2.37:g.47278891G>A	ENSP00000316699:p.Arg675Gln					TTC7A_ENST00000409245.1_Missense_Mutation_p.R641Q|TTC7A_ENST00000394850.2_Missense_Mutation_p.R699Q|TTC7A_ENST00000263737.6_Missense_Mutation_p.R321Q	p.R675Q	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		18	2392	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	675					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.2024G>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564514	0.27915	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.30448	1.97;1.98;1.58;1.53	5.18	-1.32	0.09201	.	0.714105	0.14039	N	0.345581	T	0.08358	0.0208	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.32188	-0.9916	10	0.28530	T	0.3	-10.3818	6.2123	0.20636	0.6278:0.0:0.2237:0.1485	.	699;641;675;641	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	Q	641;675;699;321;502	ENSP00000386307:R641Q;ENSP00000316699:R675Q;ENSP00000378320:R699Q;ENSP00000263737:R321Q	ENSP00000263737:R321Q	R	+	2	0	TTC7A	47132395	0.000000	0.05858	0.989000	0.46669	0.735000	0.41995	0.439000	0.21575	-0.145000	0.11294	-0.136000	0.14681	CGG		0.662	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		10	52	0	0	0	1	0	10	52				
ZNF536	9745	broad.mit.edu	37	19	31038939	31038939	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr19:31038939C>T	ENST00000355537.3	+	4	2560	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	805					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCGGGAGCGGCAGAACGG	0.537																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2413-2415)Cgg>Tgg		zinc finger protein 536							67.0	73.0	71.0					19																	31038939		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31038939C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2413C>T	19.37:g.31038939C>T	ENSP00000347730:p.Arg805Trp						p.R805W	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2560	+	Esophageal squamous(110;0.0834)		805					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2413C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200011	0.38905	.	.	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.98	2.55	0.30701	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.17789	0.0427	L	0.32530	0.975	0.45172	D	0.998183	D;D	0.89917	1.0;1.0	D;D	0.65987	0.94;0.94	T	0.00617	-1.1642	10	0.87932	D	0	-19.5882	15.7677	0.78141	0.5855:0.4145:0.0:0.0	.	805;805	A7E228;O15090	.;ZN536_HUMAN	W	805	ENSP00000347730:R805W	ENSP00000347730:R805W	R	+	1	2	ZNF536	35730779	1.000000	0.71417	0.993000	0.49108	0.690000	0.40134	2.364000	0.44187	0.364000	0.24374	0.591000	0.81541	CGG		0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		8	33	0	0	0	1	0	8	33				
ITGAX	3687	broad.mit.edu	37	16	31382413	31382413	+	Silent	SNP	G	G	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr16:31382413G>A	ENST00000268296.4	+	15	1840	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	ITGAX_ENST00000562522.1_Silent_p.A573A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	573					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGCGGATCGCGGGCTCCCAGC	0.582																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1717-1719)gcG>gcA		integrin, alpha X (complement component 3 receptor 4 subunit)							77.0	86.0	83.0					16																	31382413		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382413G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1719G>A	16.37:g.31382413G>A						ITGAX_ENST00000562522.1_Silent_p.A573A	p.A573A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			15	1840	+			573					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1719G>A	CCDS10711.1																																																																																				0.582	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		14	50	0	0	0	1	0	14	50				
SEC23B	10483	broad.mit.edu	37	20	18496338	18496338	+	Silent	SNP	C	C	T			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr20:18496338C>T	ENST00000336714.3	+	4	756	c.324C>T	c.(322-324)gcC>gcT	p.A108A	SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377465.1_Silent_p.A108A|SEC23B_ENST00000262544.2_Silent_p.A108A|SEC23B_ENST00000377475.3_Silent_p.A108A	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	108					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATCAACCTGCCGAATTGATGC	0.348																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(322-324)gcC>gcT		Sec23 homolog B (S. cerevisiae)							171.0	126.0	141.0					20																	18496338		2203	4300	6503	SO:0001819	synonymous_variant	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18496338C>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.324C>T	20.37:g.18496338C>T						SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000262544.2_Silent_p.A108A|SEC23B_ENST00000377475.3_Silent_p.A108A|SEC23B_ENST00000377465.1_Silent_p.A108A	p.A108A	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			4	756	+			108					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	c.324C>T	CCDS13137.1																																																																																				0.348	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			17	82	0	0	0	1	0	17	82				
MUC2	4583	broad.mit.edu	37	11	1075772	1075772	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:1075772C>G	ENST00000441003.2	+	2	225	c.198C>G	c.(196-198)gaC>gaG	p.D66E	MUC2_ENST00000359061.5_Missense_Mutation_p.D66E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	66	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCGCCTCCGACTGCCGAGGCT	0.642																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(196-198)gaC>gaG		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						21.0	25.0	24.0					11																	1075772		2016	4168	6184	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1075772C>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.198C>G	11.37:g.1075772C>G	ENSP00000415183:p.Asp66Glu					MUC2_ENST00000359061.5_Missense_Mutation_p.D66E	p.D66E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	66			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.198C>G		.	.	.	.	.	.	.	.	.	.	C	8.179	0.793336	0.16327	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.60797	0.16;0.16	3.42	2.49	0.30216	.	0.077095	0.47455	U	0.000230	T	0.70500	0.3231	M	0.80422	2.495	0.32041	N	0.598185	P	0.51057	0.941	P	0.59171	0.853	T	0.74349	-0.3694	10	0.40728	T	0.16	.	11.2041	0.48758	0.0:0.822:0.0:0.178	.	66	E7EUV1	.	E	66	ENSP00000415183:D66E;ENSP00000351956:D66E	ENSP00000351956:D66E	D	+	3	2	MUC2	1065772	1.000000	0.71417	0.801000	0.32222	0.089000	0.18198	1.429000	0.34903	0.175000	0.19841	-1.134000	0.01955	GAC		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		7	9	0	0	0	1	0	7	9				
MOGAT2	80168	broad.mit.edu	37	11	75442268	75442268	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:75442268C>A	ENST00000198801.5	+	6	1012	c.942C>A	c.(940-942)aaC>aaA	p.N314K	MOGAT2_ENST00000526712.1_Missense_Mutation_p.N232K	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	314					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGCTGTGCAACCTCTTCGAGG	0.567																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(694-696)aaC>aaA		monoacylglycerol O-acyltransferase 2							122.0	106.0	112.0					11																	75442268		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442268C>A	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.942C>A	11.37:g.75442268C>A	ENSP00000198801:p.Asn314Lys					MOGAT2_ENST00000198801.5_Missense_Mutation_p.N314K	p.N232K			Q3SYC2	MOGT2_HUMAN			5	1469	+	Ovarian(111;0.103)		314					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.696C>A	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	3.482	-0.105663	0.06924	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.13196	2.61;2.61	6.17	3.25	0.37280	.	0.940855	0.09223	N	0.831639	T	0.04092	0.0114	N	0.01624	-0.795	0.22127	N	0.999342	B	0.02656	0.0	B	0.11329	0.006	T	0.41520	-0.9504	10	0.02654	T	1	-13.172	6.0048	0.19541	0.124:0.4355:0.3689:0.0716	.	314	Q3SYC2	MOGT2_HUMAN	K	314;232	ENSP00000198801:N314K;ENSP00000436283:N232K	ENSP00000198801:N314K	N	+	3	2	MOGAT2	75119916	0.003000	0.15002	0.677000	0.29947	0.998000	0.95712	-0.190000	0.09615	0.445000	0.26639	0.655000	0.94253	AAC		0.567	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		16	44	1	0	0.000566183	1	0.000566183	16	44				
DNAH17	8632	broad.mit.edu	37	17	76482396	76482396	+	Silent	SNP	G	G	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr17:76482396G>A	ENST00000585328.1	-	45	7120	c.6996C>T	c.(6994-6996)acC>acT	p.T2332T	DNAH17_ENST00000389840.5_Silent_p.T2323T|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2323					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGGGGGCACGGTCTTCTCCG	0.592																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6967-6969)acC>acT		dynein, axonemal, heavy chain 17							56.0	62.0	60.0					17																	76482396		2144	4247	6391	SO:0001819	synonymous_variant	8632							g.chr17:76482396G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6996C>T	17.37:g.76482396G>A						DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.T2332T	p.T2323T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		45	7093	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.6969C>T																																																																																					0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		6	41	0	0	0	1	0	6	41				
NFASC	23114	broad.mit.edu	37	1	204937483	204937483	+	Silent	SNP	C	C	T	rs140997318	byFrequency	TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:204937483C>T	ENST00000401399.1	+	8	1012	c.813C>T	c.(811-813)tcC>tcT	p.S271S	NFASC_ENST00000367169.4_Silent_p.S271S|NFASC_ENST00000403080.1_Silent_p.S271S|NFASC_ENST00000339876.6_Silent_p.S271S|NFASC_ENST00000367172.4_Silent_p.S271S|NFASC_ENST00000539706.1_Silent_p.S282S|NFASC_ENST00000360049.4_Silent_p.S282S|NFASC_ENST00000367171.4_Silent_p.S271S|NFASC_ENST00000338515.6_Silent_p.S271S|NFASC_ENST00000404076.1_Silent_p.S265S|NFASC_ENST00000404907.1_Silent_p.S282S|NFASC_ENST00000338586.6_Silent_p.S271S|NFASC_ENST00000367170.4_Silent_p.S271S|NFASC_ENST00000513543.1_Silent_p.S282S			O94856	NFASC_HUMAN	neurofascin	271	Ig-like C2-type 3.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.S282S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCATCGCCTCCGGGGTGTATG	0.557																																						ENST00000367172.4																			1	Substitution - coding silent(1)	p.S282S(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(811-813)tcC>tcT		neurofascin		C	,,,,,	0,4406		0,0,2203	107.0	85.0	93.0		813,813,846,846,795,846	-9.9	0.9	1	dbSNP_134	93	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFASC	NM_001005388.2,NM_001005389.1,NM_001160331.1,NM_001160332.1,NM_001160333.1,NM_015090.3	,,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,,	271/1241,271/620,282/1190,282/1175,265/614,282/1170	204937483	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204937483C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.813C>T	1.37:g.204937483C>T						NFASC_ENST00000338586.6_Silent_p.S271S|NFASC_ENST00000513543.1_Silent_p.S282S|NFASC_ENST00000338515.6_Silent_p.S271S|NFASC_ENST00000360049.4_Silent_p.S282S|NFASC_ENST00000339876.6_Silent_p.S271S|NFASC_ENST00000367170.4_Silent_p.S271S|NFASC_ENST00000367169.4_Silent_p.S271S|NFASC_ENST00000539706.1_Silent_p.S282S|NFASC_ENST00000401399.1_Silent_p.S271S|NFASC_ENST00000404076.1_Silent_p.S265S|NFASC_ENST00000403080.1_Silent_p.S271S|NFASC_ENST00000404907.1_Silent_p.S282S|NFASC_ENST00000367171.4_Silent_p.S271S	p.S271S			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		9	1141	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		271			Ig-like C2-type 3.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.813C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497972	0.26861	0.0	3.49E-4	ENSG00000163531	ENST00000367173	.	.	.	4.93	-9.86	0.00473	.	.	.	.	.	T	0.44393	0.1291	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53222	-0.8469	4	.	.	.	.	7.2635	0.26217	0.2824:0.124:0.0:0.5936	.	.	.	.	L	241	.	.	P	+	2	0	NFASC	203204106	0.000000	0.05858	0.885000	0.34714	0.973000	0.67179	-3.459000	0.00464	-1.434000	0.01975	-0.141000	0.14075	CCG		0.557	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		9	29	0	0	0	1	0	9	29				
PCDHB7	56129	broad.mit.edu	37	5	140554104	140554104	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:140554104A>G	ENST00000231137.3	+	1	1862	c.1688A>G	c.(1687-1689)tAc>tGc	p.Y563C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	563					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y563F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGTGCTGTACCCGCTGCAG	0.736																																						ENST00000231137.3																			1	Substitution - Missense(1)	p.Y563F(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1687-1689)tAc>tGc									27.0	32.0	31.0					5																	140554104		2181	4287	6468	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554104A>G	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1688A>G	5.37:g.140554104A>G	ENSP00000231137:p.Tyr563Cys						p.Y563C	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1862	+			563					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1688A>G	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	17.39|17.39	3.376803|3.376803	0.61735|0.61735	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000543636|ENST00000231137	.|T	.|0.61040	.|0.14	4.3|4.3	4.3|4.3	0.51218|0.51218	.|Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.80507|0.80507	0.4636|0.4636	M|M	0.92604|0.92604	3.325|3.325	0.37562|0.37562	D|D	0.91911|0.91911	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.87367|0.87367	0.2348|0.2348	6|9	0.87932|0.87932	D|D	0|0	.|.	13.4597|13.4597	0.61221|0.61221	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|563	.|Q9Y5E2	.|PCDB7_HUMAN	A|C	346|563	.|ENSP00000231137:Y563C	ENSP00000440828:T346A|ENSP00000231137:Y563C	T|Y	+|+	1|2	0|0	PCDHB7|PCDHB7	140534288|140534288	0.381000|0.381000	0.25140|0.25140	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	2.543000|2.543000	0.45752|0.45752	1.705000|1.705000	0.51264|0.51264	0.369000|0.369000	0.22263|0.22263	ACC|TAC		0.736	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		14	32	0	0	0	1	0	14	32				
SNAP47	116841	broad.mit.edu	37	1	227935845	227935845	+	Silent	SNP	G	G	A	rs139457264		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:227935845G>A	ENST00000366759.4	+	2	957	c.543G>A	c.(541-543)acG>acA	p.T181T	SNAP47_ENST00000366760.1_Intron|SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000315781.5_Silent_p.T181T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	181	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGAGGACACGGCGAGGGTCC	0.652																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(541-543)acG>acA		synaptosomal-associated protein, 47kDa							31.0	33.0	32.0					1																	227935845		2203	4300	6503	SO:0001819	synonymous_variant	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935845G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.543G>A	1.37:g.227935845G>A						SNAP47_ENST00000315781.5_Silent_p.T181T|SNAP47_ENST00000366760.1_Intron	p.T181T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			2	957	+			181			t-SNARE coiled-coil homology 1.		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Silent	SNP	ENST00000366759.4	37	c.543G>A	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.322669	0.01320	.	.	ENSG00000143740	ENST00000426344	.	.	.	4.12	-8.25	0.01025	.	.	.	.	.	T	0.46464	0.1394	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55891	-0.8069	4	.	.	.	-13.7884	6.848	0.23998	0.4204:0.0:0.3929:0.1867	.	.	.	.	S	173	.	.	G	+	1	0	SNAP47	226002468	0.023000	0.18921	0.000000	0.03702	0.017000	0.09413	-0.902000	0.04088	-3.466000	0.00158	-2.409000	0.00222	GGC		0.652	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		6	24	0	0	0	1	0	6	24				
PTCHD3	374308	broad.mit.edu	37	10	27702370	27702370	+	Silent	SNP	G	G	A	rs376677291		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr10:27702370G>A	ENST00000438700.3	-	1	927	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	270					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.Y270Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCCAGGCGTACAGGATCG	0.627																																						ENST00000438700.3																			1	Substitution - coding silent(1)	p.Y270Y(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(808-810)taC>taT		patched domain containing 3		A		1,4405	2.1+/-5.4	0,1,2202	52.0	57.0	55.0		810	0.1	0.0	10		55	0,8600		0,0,4300	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		270/768	27702370	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702370G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.810C>T	10.37:g.27702370G>A							p.Y270Y	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	927	-			270					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.810C>T	CCDS31173.1																																																																																				0.627	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		7	21	0	0	0	1	0	7	21				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	85	0	0	0	1	0	4	85				
EHHADH	1962	broad.mit.edu	37	3	184922509	184922509	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr3:184922509delG	ENST00000231887.3	-	6	680	c.605delC	c.(604-606)ccafs	p.P202fs	EHHADH_ENST00000456310.1_Frame_Shift_Del_p.P106fs	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	202	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GCTCTGAATTGGCTTGTTGCA	0.468																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(604-606)cafs		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						82.0	79.0	80.0					3																	184922509		2203	4300	6503	SO:0001589	frameshift_variant	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184922509delG	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.605delC	3.37:g.184922509delG	ENSP00000231887:p.Pro202fs					EHHADH_ENST00000456310.1_Frame_Shift_Del_p.P106fs	p.P202fs	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	680	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		202			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Frame_Shift_Del	DEL	ENST00000231887.3	37	c.605delC	CCDS33901.1																																																																																				0.468	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			13	79						13	79	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118344075	118344076	+	Frame_Shift_Ins	INS	-	-	A	rs11552439		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:118344075_118344076insA	ENST00000389506.5	+	3	2201_2202	c.2201_2202insA	c.(2200-2205)agaaaafs	p.RK734fs	KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.RK734fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.RK734fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	734					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GTATCCAATAGAAAAAGGAAAA	0.406																																						ENST00000534358.1																			0											c.(2200-2202)aaafs		lysine (K)-specific methyltransferase 2A																																				SO:0001589	frameshift_variant	4297							g.chr11:118344075_118344076insA	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2206dupA	11.37:g.118344080_118344080dupA	ENSP00000374157:p.Arg734fs					KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.K734fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.K734fs	p.K734fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	2224_2225	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	c.2201_2202insA	CCDS31686.1																																																																																				0.406	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		14	47						14	47	---	---	---	---
IKBIP	121457	broad.mit.edu	37	12	99007629	99007635	+	Frame_Shift_Del	DEL	AGCTTAG	AGCTTAG	-			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr12:99007629_99007635delAGCTTAG	ENST00000342502.2	-	3	1192_1198	c.781_787delCTAAGCT	c.(781-789)ctaagcttafs	p.LSL261fs	IKBIP_ENST00000420861.1_Frame_Shift_Del_p.LSL155fs|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	261					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCACCTTCTAAGCTTAGAAATCTATCT	0.377																																						ENST00000342502.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(781-789)tafs		IKBKB interacting protein																																				SO:0001589	frameshift_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007629_99007635delAGCTTAG	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.781_787delCTAAGCT	12.37:g.99007629_99007635delAGCTTAG	ENSP00000343471:p.Leu261fs					IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Frame_Shift_Del_p.LSL155fs	p.LSL261fs	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN			3	1192_1198	-			261					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Frame_Shift_Del	DEL	ENST00000342502.2	37	c.781_787delCTAAGCT	CCDS9067.1																																																																																				0.377	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		17	47						17	47	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			0							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			4	8						4	8	---	---	---	---
LLGL1	3996	broad.mit.edu	37	17	18138412	18138413	+	Frame_Shift_Ins	INS	-	-	C	rs572830833		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr17:18138412_18138413insC	ENST00000316843.4	+	10	1166_1167	c.1070_1071insC	c.(1069-1074)gaccccfs	p.DP357fs		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	357					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GAATTTGATGACCCCCAGGCCC	0.658																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1069-1071)gccfs		lethal giant larvae homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138412_18138413insC		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1075dupC	17.37:g.18138417_18138417dupC	ENSP00000321537:p.Asp357fs						p.A357fs	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			10	1166_1167	+	all_neural(463;0.228)		357					A7MBM7|O00188|Q58F11|Q86UK6	Frame_Shift_Ins	INS	ENST00000316843.4	37	c.1070_1071insC	CCDS32586.1																																																																																				0.658	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			16	26						16	26	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	0							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			3	3						3	3	---	---	---	---
ERN1	2081	broad.mit.edu	37	17	62207360	62207362	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr17:62207360_62207362delCAG	ENST00000433197.3	-	1	123_125	c.28_30delCTG	c.(28-30)ctgdel	p.L10del	ERN1_ENST00000606895.1_In_Frame_Del_p.L10del	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						gcagcagcgtcagcagcagcagc	0.793																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(28-30)del		endoplasmic reticulum to nucleus signaling 1				5,14,1499		2,0,1,3,8,745						2.7	1.0			2	0,38,3992		0,0,0,6,26,1983	no	codingComplex	ERN1	NM_001433.3		2,0,1,9,34,2728	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9429,1.2516,1.0274				5,52,5491				SO:0001651	inframe_deletion	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62207360_62207362delCAG	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.28_30delCTG	17.37:g.62207369_62207371delCAG	ENSP00000401445:p.Leu10del					ERN1_ENST00000606895.1_In_Frame_Del_p.L10del	p.L10del	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			1	123_125	-			10						In_Frame_Del	DEL	ENST00000433197.3	37	c.28_30delCTG	CCDS45762.1																																																																																				0.793	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		2	4						2	4	---	---	---	---
