#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
AHNAK2	113146	broad.mit.edu	37	14	105419464	105419464	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr14:105419464C>T	ENST00000333244.5	-	7	2443	c.2324G>A	c.(2323-2325)gGc>gAc	p.G775D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	775						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTTGGGGCCCTTGAGGTC	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2323-2325)gGc>gAc		AHNAK nucleoprotein 2							115.0	128.0	124.0					14																	105419464		1869	4095	5964	SO:0001583	missense	113146					nucleus		g.chr14:105419464C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2324G>A	14.37:g.105419464C>T	ENSP00000353114:p.Gly775Asp					AHNAK2_ENST00000557457.1_Intron	p.G775D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2443	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	775					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2324G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.21	1.868927	0.32977	.	.	ENSG00000185567	ENST00000333244	T	0.01981	4.52	2.56	0.244	0.15507	.	.	.	.	.	T	0.08179	0.0204	M	0.80847	2.515	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.30995	-0.9959	9	0.27785	T	0.31	-3.9564	2.2801	0.04112	0.1846:0.5017:0.1826:0.1311	.	775	Q8IVF2	AHNK2_HUMAN	D	775	ENSP00000353114:G775D	ENSP00000353114:G775D	G	-	2	0	AHNAK2	104490509	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	-1.221000	0.02968	0.360000	0.24265	0.485000	0.47835	GGC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		93	177	0	0	0	1	0	93	177				
KLHL30	377007	broad.mit.edu	37	2	239049642	239049642	+	Missense_Mutation	SNP	G	G	C	rs201253372	byFrequency	TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:239049642G>C	ENST00000409223.1	+	2	354	c.247G>C	c.(247-249)Gtg>Ctg	p.V83L	KLHL30_ENST00000305959.4_Missense_Mutation_p.V65L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	83	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGCCCGCCGTGGTGGGACA	0.672																																						ENST00000409223.1																			0				lung(4)	4						c.(247-249)Gtg>Ctg		kelch-like family member 30							92.0	108.0	103.0					2																	239049642		2180	4256	6436	SO:0001583	missense	377007							g.chr2:239049642G>C		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.247G>C	2.37:g.239049642G>C	ENSP00000386389:p.Val83Leu					KLHL30_ENST00000305959.4_Missense_Mutation_p.V65L	p.V83L			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	354	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	83			BTB.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.247G>C	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	7.010	0.556526	0.13436	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.69435	-0.4;-0.4	5.75	-0.349	0.12609	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.786910	0.12079	N	0.501498	T	0.65790	0.2725	M	0.73962	2.25	0.09310	N	1	B	0.27823	0.19	B	0.32465	0.146	T	0.59904	-0.7366	10	0.49607	T	0.09	.	10.6955	0.45896	0.3965:0.0:0.6035:0.0	.	83	Q0D2K2	KLH30_HUMAN	L	83;65	ENSP00000386389:V83L;ENSP00000302386:V65L	ENSP00000302386:V65L	V	+	1	0	KLHL30	238714381	0.040000	0.19996	0.012000	0.15200	0.174000	0.22865	1.511000	0.35801	-0.105000	0.12132	-0.136000	0.14681	GTG		0.672	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		59	136	0	0	0	1	0	59	136				
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060	byFrequency	TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.H100R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.H236R(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373																																						ENST00000217244.3																			2	Substitution - Missense(2)	p.H236R(2)	lung(1)|central_nervous_system(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(706-708)cAt>cGt		casein kinase 2, alpha 1 polypeptide							94.0	83.0	87.0					20																	470440		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470440T>C	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.707A>G	20.37:g.470440T>C	ENSP00000217244:p.His236Arg					CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR	p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1082	-		Breast(17;0.231)	236			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.707A>G	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018985	0.54576	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096383	0.85682	D	0.000000	T	0.35566	0.0936	N	0.01640	-0.785	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.27088	-1.0084	10	0.40728	T	0.16	-5.9305	14.2644	0.66107	0.0:0.0:0.0:1.0	.	236	P68400	CSK21_HUMAN	R	236;236;236;236;100	ENSP00000383086:H236R;ENSP00000339247:H236R;ENSP00000217244:H236R;ENSP00000383076:H100R	ENSP00000217244:H236R	H	-	2	0	CSNK2A1	418440	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.791000	0.85805	2.213000	0.71641	0.477000	0.44152	CAT		0.373	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		3	43	0	0	0	1	0	3	43				
CTR9	9646	broad.mit.edu	37	11	10800225	10800225	+	Splice_Site	SNP	G	G	C			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:10800225G>C	ENST00000361367.2	+	25	3521		c.e25-1			NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component						cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATCTTTGCCAGACATCCCAGG	0.448																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.e25-1		CTR9, Paf1/RNA polymerase II complex component							73.0	62.0	66.0					11																	10800225		2201	4294	6495	SO:0001630	splice_region_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10800225G>C	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.3096-1G>C	11.37:g.10800225G>C								NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	25	3521	+								D3DQV8|Q15015	Splice_Site	SNP	ENST00000361367.2	37		CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196906	0.58126	.	.	ENSG00000198730	ENST00000361367	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4004	0.60879	0.0:0.0:0.843:0.157	.	.	.	.	.	-1	.	.	.	+	.	.	CTR9	10756801	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	5.097000	0.64542	2.591000	0.87537	0.655000	0.94253	.		0.448	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	Intron	13	23	0	0	0	1	0	13	23				
KLC4	89953	broad.mit.edu	37	6	43038170	43038170	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr6:43038170C>T	ENST00000394056.2	+	8	1453	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	KLC4_ENST00000347162.5_Missense_Mutation_p.R320W|KLC4_ENST00000259708.3_Missense_Mutation_p.R338W|KLC4_ENST00000394058.1_Missense_Mutation_p.R320W|KLC4_ENST00000453940.2_Missense_Mutation_p.R243W|KLC4_ENST00000479388.1_Missense_Mutation_p.R320W			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	320						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TCTGTGCCAGCGGGCACTGGA	0.557											OREG0017448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(958-960)Cgg>Tgg		kinesin light chain 4							83.0	73.0	76.0					6																	43038170		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43038170C>T	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.958C>T	6.37:g.43038170C>T	ENSP00000377620:p.Arg320Trp		OREG0017448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	KLC4_ENST00000347162.5_Missense_Mutation_p.R320W|KLC4_ENST00000453940.2_Missense_Mutation_p.R243W|KLC4_ENST00000479388.1_Missense_Mutation_p.R320W|KLC4_ENST00000394058.1_Missense_Mutation_p.R320W|KLC4_ENST00000259708.3_Missense_Mutation_p.R338W	p.R320W			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		8	1453	+			320					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.958C>T	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164383	0.78339	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.81	4.93	0.64822	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000015	D	0.97952	0.9326	H	0.96604	3.85	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.99084	1.0838	10	0.87932	D	0	-13.1537	13.8188	0.63308	0.298:0.702:0.0:0.0	.	243;338;320	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	W	320;243;338;320;320;320	ENSP00000340221:R320W;ENSP00000395806:R243W;ENSP00000259708:R338W;ENSP00000418031:R320W;ENSP00000377620:R320W;ENSP00000377622:R320W	ENSP00000259708:R338W	R	+	1	2	KLC4	43146148	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.686000	0.46968	1.419000	0.47118	-0.274000	0.10170	CGG		0.557	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		14	47	0	0	0	1	0	14	47				
OR51I1	390063	broad.mit.edu	37	11	5462694	5462694	+	Silent	SNP	T	T	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:5462694T>A	ENST00000380211.1	-	1	50	c.51A>T	c.(49-51)acA>acT	p.T17T	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	17					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAATGCCTGTCAGCTGGA	0.522																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(49-51)acA>acT		olfactory receptor, family 51, subfamily I, member 1							83.0	84.0	83.0					11																	5462694		2201	4297	6498	SO:0001819	synonymous_variant	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462694T>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.51A>T	11.37:g.5462694T>A						AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.T17T	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	50	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	17					B9EKW2|Q6IF33	Silent	SNP	ENST00000380211.1	37	c.51A>T	CCDS31382.1																																																																																				0.522	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		26	49	0	0	0	1	0	26	49				
MUC16	94025	broad.mit.edu	37	19	9069310	9069310	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:9069310A>G	ENST00000397910.4	-	3	18339	c.18136T>C	c.(18136-18138)Tct>Cct	p.S6046P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6048	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCATCATAGATCCAGTAACC	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(18136-18138)Tct>Cct		mucin 16, cell surface associated							160.0	166.0	164.0					19																	9069310		2038	4193	6231	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069310A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18136T>C	19.37:g.9069310A>G	ENSP00000381008:p.Ser6046Pro						p.S6046P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18339	-			6048			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18136T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.152	-0.174056	0.06421	.	.	ENSG00000181143	ENST00000397910	T	0.27557	1.66	1.11	-2.01	0.07410	.	.	.	.	.	T	0.21387	0.0515	L	0.46157	1.445	.	.	.	B	0.18968	0.032	B	0.15484	0.013	T	0.29088	-1.0023	8	0.87932	D	0	.	2.2182	0.03965	0.4426:0.3168:0.2406:0.0	.	6046	B5ME49	.	P	6046	ENSP00000381008:S6046P	ENSP00000381008:S6046P	S	-	1	0	MUC16	8930310	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.275000	0.08525	-0.699000	0.05077	0.138000	0.15974	TCT		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		45	87	0	0	0	1	0	45	87				
CHEK2P2	646096	broad.mit.edu	37	15	20489434	20489434	+	RNA	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr15:20489434C>T	ENST00000555186.1	+	0	422					NR_038836.1				checkpoint kinase 2 pseudogene 2																		CACTGAAGGACCAGATCACCA	0.413																																						ENST00000555186.1																			0																																																			0							g.chr15:20489434C>T			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20489434C>T								NR_038836.1						0	422	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.413	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		5	62	0	0	0	1	0	5	62				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			5	144	0	0	0	1	0	5	144				
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs200408968		TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr15:78290635C>T	ENST00000300584.3	-	13	2758	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D903N	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	920							Rab GTPase activator activity (GO:0005097)	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617																																						ENST00000409931.3																			4	Substitution - Missense(4)	p.D903N(3)|p.R920Q(1)	cervix(2)|upper_aerodigestive_tract(1)|ovary(1)	breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2707-2709)Gac>Aac		TBC1 domain family, member 2B							39.0	33.0	35.0					15																	78290635		2196	4291	6487	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290635C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2759G>A	15.37:g.78290635C>T	ENSP00000300584:p.Arg920Gln					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR	p.D903N			Q9UPU7	TBD2B_HUMAN			13	2778	-			0					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2707G>A	CCDS45314.1	88|88	0.040293040293040296|0.040293040293040296	2|2	0.0040650406504065045|0.0040650406504065045	10|10	0.027624309392265192|0.027624309392265192	8|8	0.013986013986013986|0.013986013986013986	68|68	0.08970976253298153|0.08970976253298153	c|c	22.6|22.6	4.311579|4.311579	0.81358|0.81358	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039;ENST00000409931|ENST00000300584	T|T	0.11712|0.09445	2.75|2.98	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.787190|.	0.11177|.	N|.	0.591392|.	T|T	0.00608|0.00608	0.0020|0.0020	.|.	.|.	.|.	0.26703|0.26703	N|N	0.971136|0.971136	B|D	0.30193|0.57257	0.272|0.979	B|P	0.18561|0.51833	0.022|0.681	T|T	0.06807|0.06807	-1.0806|-1.0806	9|8	0.02654|0.23891	T|T	1|0.37	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903|920	Q9UPU7-2|Q9UPU7	.|TBD2B_HUMAN	N|Q	802;903|920	ENSP00000387165:D903N|ENSP00000300584:R920Q	ENSP00000387165:D903N|ENSP00000300584:R920Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76077690|76077690	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	6.002000|6.002000	0.70693|0.70693	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAC|CGA		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		3	18	0	0	0	1	0	3	18				
KIDINS220	57498	broad.mit.edu	37	2	8940605	8940605	+	Silent	SNP	G	G	A	rs371218344		TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:8940605G>A	ENST00000256707.3	-	9	1006	c.825C>T	c.(823-825)ggC>ggT	p.G275G	KIDINS220_ENST00000473731.1_Silent_p.G275G|KIDINS220_ENST00000319688.5_Silent_p.G276G|KIDINS220_ENST00000418530.1_Silent_p.G233G|KIDINS220_ENST00000427284.1_Silent_p.G275G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	275					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCTGACAGCGCCAATCAACA	0.373																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(823-825)ggC>ggT		kinase D-interacting substrate, 220kDa							176.0	178.0	177.0					2																	8940605		1903	4110	6013	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8940605G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.825C>T	2.37:g.8940605G>A						KIDINS220_ENST00000427284.1_Silent_p.G275G|KIDINS220_ENST00000319688.5_Silent_p.G276G|KIDINS220_ENST00000473731.1_Silent_p.G275G|KIDINS220_ENST00000418530.1_Silent_p.G233G	p.G275G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			9	1006	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		275					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.825C>T	CCDS42650.1																																																																																				0.373	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		5	179	0	0	0	1	0	5	179				
GPR112	139378	broad.mit.edu	37	X	135487899	135487899	+	Silent	SNP	T	T	C			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chrX:135487899T>C	ENST00000394143.1	+	23	8994	c.8703T>C	c.(8701-8703)taT>taC	p.Y2901Y	GPR112_ENST00000287534.4_Silent_p.Y2654Y|GPR112_ENST00000394141.1_Silent_p.Y2696Y|GPR112_ENST00000412101.1_Silent_p.Y2696Y|GPR112_ENST00000370652.1_Silent_p.Y2901Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2901					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGTGGCTTATTTTTGCCTCA	0.368																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(8701-8703)taT>taC		G protein-coupled receptor 112							190.0	155.0	167.0					X																	135487899		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135487899T>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8703T>C	X.37:g.135487899T>C						GPR112_ENST00000370652.1_Silent_p.Y2901Y|GPR112_ENST00000287534.4_Silent_p.Y2654Y|GPR112_ENST00000412101.1_Silent_p.Y2696Y|GPR112_ENST00000394141.1_Silent_p.Y2696Y	p.Y2901Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			23	8994	+	Acute lymphoblastic leukemia(192;0.000127)		2901					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.8703T>C	CCDS35409.1																																																																																				0.368	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			4	29	0	0	0	1	0	4	29				
GDE1	51573	broad.mit.edu	37	16	19519049	19519049	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr16:19519049T>C	ENST00000353258.3	-	4	776	c.596A>G	c.(595-597)aAt>aGt	p.N199S		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	199	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GACCACACTATTATTATACAG	0.318																																						ENST00000353258.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						c.(595-597)aAt>aGt		glycerophosphodiester phosphodiesterase 1							92.0	94.0	94.0					16																	19519049		2197	4300	6497	SO:0001583	missense	51573				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding	g.chr16:19519049T>C		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.596A>G	16.37:g.19519049T>C	ENSP00000261386:p.Asn199Ser						p.N199S	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN			4	776	-			199			GDPD.		O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	37	c.596A>G	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	T	4.334	0.061462	0.08339	.	.	ENSG00000006007	ENST00000353258	T	0.11277	2.79	5.75	-5.5	0.02576	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.387082	0.32518	N	0.005999	T	0.02807	0.0084	N	0.02697	-0.525	0.27119	N	0.962188	B	0.02656	0.0	B	0.04013	0.001	T	0.35276	-0.9795	10	0.27785	T	0.31	-12.0075	6.075	0.19911	0.1:0.4647:0.2979:0.1373	.	199	Q9NZC3	GDE1_HUMAN	S	199	ENSP00000261386:N199S	ENSP00000261386:N199S	N	-	2	0	GDE1	19426550	0.893000	0.30496	0.929000	0.37066	0.784000	0.44337	-0.198000	0.09505	-0.408000	0.07565	-1.069000	0.02264	AAT		0.318	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		24	50	0	0	0	1	0	24	50				
ACAN	176	broad.mit.edu	37	15	89402162	89402162	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr15:89402162G>A	ENST00000561243.1	+	11	6346	c.6346G>A	c.(6346-6348)Gcc>Acc	p.A2116T	ACAN_ENST00000439576.2_Missense_Mutation_p.A2116T|ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T|ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T			P16112	PGCA_HUMAN	aggrecan	2001	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCATCTGCCGCCCCTGAGGC	0.562																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6346-6348)Gcc>Acc		aggrecan							45.0	47.0	47.0					15																	89402162		1908	4116	6024	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402162G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6346G>A	15.37:g.89402162G>A	ENSP00000453342:p.Ala2116Thr					ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T|ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T|ACAN_ENST00000561243.1_Missense_Mutation_p.A2116T	p.A2116T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6720	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2116					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6346G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	4.445	0.082406	0.08533	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02197	4.61;4.4	5.18	3.18	0.36537	.	0.000000	0.32503	N	0.006010	T	0.06005	0.0156	M	0.68317	2.08	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.60789	0.794;0.879	T	0.28964	-1.0027	10	0.20046	T	0.44	-7.8812	4.7799	0.13197	0.1896:0.1793:0.6311:0.0	.	2116;2116	E7ENV9;E7EX88	.;.	T	2116;2116;2002	ENSP00000387356:A2116T;ENSP00000341615:A2116T	ENSP00000268134:A2002T	A	+	1	0	ACAN	87203166	0.000000	0.05858	0.092000	0.20876	0.011000	0.07611	-0.226000	0.09139	1.170000	0.42753	0.555000	0.69702	GCC		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		19	60	0	0	0	1	0	19	60				
POU2AF1	5450	broad.mit.edu	37	11	111228347	111228347	+	Silent	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:111228347C>T	ENST00000393067.3	-	4	793	c.279G>A	c.(277-279)ccG>ccA	p.P93P		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	93					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCAGGGTGGCCGGGGTGGGCT	0.627			T	BCL6	NHL																																	ENST00000393067.3				Dom	yes		11	11q23.1	5450	T	"""POU domain, class 2, associating factor 1 (OBF1)"""			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(277-279)ccG>ccA		POU class 2 associating factor 1							26.0	27.0	27.0					11																	111228347		2201	4297	6498	SO:0001819	synonymous_variant	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111228347C>T		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.279G>A	11.37:g.111228347C>T							p.P93P	NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	4	793	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	93					B2R8Z9|Q14983	Silent	SNP	ENST00000393067.3	37	c.279G>A	CCDS31675.1																																																																																				0.627	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		3	41	0	0	0	1	0	3	41				
DCHS2	54798	broad.mit.edu	37	4	155298502	155298502	+	Missense_Mutation	SNP	C	C	T	rs571144811		TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr4:155298502C>T	ENST00000357232.4	-	3	328	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	DCHS2_ENST00000339452.1_Missense_Mutation_p.R716Q	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGGTCGATCCGGAATGCCTG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20467	0.0		0.0	False		,,,				2504	0.001					ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(328-330)cGg>cAg		dachsous cadherin-related 2							123.0	114.0	117.0					4																	155298502		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155298502C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.329G>A	4.37:g.155298502C>T	ENSP00000349768:p.Arg110Gln					DCHS2_ENST00000339452.1_Missense_Mutation_p.R716Q	p.R110Q	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	3	328	-	all_hematologic(180;0.208)	Renal(120;0.0854)	110			Cadherin 1.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.329G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	4.815	0.151457	0.09185	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.54675	0.56;0.56	5.64	-2.3	0.06785	Cadherin (5);Cadherin-like (1);	1.121600	0.06748	N	0.779490	T	0.22205	0.0535	N	0.04335	-0.225	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.001	T	0.38222	-0.9671	10	0.09590	T	0.72	.	2.8556	0.05571	0.1069:0.1868:0.1096:0.5967	.	716;110	E9PC11;Q6V1P9	.;PCD23_HUMAN	Q	110;716;716	ENSP00000349768:R110Q;ENSP00000345062:R716Q	ENSP00000345062:R716Q	R	-	2	0	DCHS2	155517952	0.542000	0.26426	0.144000	0.22314	0.377000	0.30045	0.016000	0.13377	-0.640000	0.05495	-0.254000	0.11334	CGG		0.468	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		29	59	0	0	0	1	0	29	59				
TCF20	6942	broad.mit.edu	37	22	42611326	42611326	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr22:42611326C>T	ENST00000359486.3	-	0	122				TCF20_ENST00000335626.4_De_novo_Start_InFrame	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCAGCAGCACAGCAGCAGGC	0.478																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66								transcription factor 20 (AR1)							60.0	60.0	60.0					22																	42611326		2203	4300	6503			6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42611326C>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920		22.37:g.42611326C>T						TCF20_ENST00000335626.4_De_novo_Start_InFrame		NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			0	122	-								A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Translation_Start_Site	SNP	ENST00000359486.3	37		CCDS14033.1																																																																																				0.478	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		23	56	0	0	0	1	0	23	56				
GABRG1	2565	broad.mit.edu	37	4	46067417	46067417	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr4:46067417C>T	ENST00000295452.4	-	4	673	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	169					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATTCCAAATTCGAAGCAGACG	0.323																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(505-507)cGa>cAa		gamma-aminobutyric acid (GABA) A receptor, gamma 1							85.0	84.0	84.0					4																	46067417		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067417C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.506G>A	4.37:g.46067417C>T	ENSP00000295452:p.Arg169Gln						p.R169Q	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	673	-			169					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.506G>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	36	5.608946	0.96637	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.79033	-1.23	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	M	0.85462	2.755	0.80722	D	1	P	0.51147	0.942	P	0.51974	0.686	D	0.88841	0.3312	10	0.87932	D	0	.	17.8218	0.88652	0.0:1.0:0.0:0.0	.	169	Q8N1C3	GBRG1_HUMAN	Q	169	ENSP00000295452:R169Q	ENSP00000295452:R169Q	R	-	2	0	GABRG1	45762174	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.759000	0.85235	2.513000	0.84729	0.508000	0.49915	CGA		0.323	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		21	33	0	0	0	1	0	21	33				
PDK4	5166	broad.mit.edu	37	7	95217071	95217071	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr7:95217071C>T	ENST00000005178.5	-	8	1035	c.838G>A	c.(838-840)Gtt>Att	p.V280I		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	280	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CCCAAGACAACAATAACCTCT	0.388																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(838-840)Gtt>Att		pyruvate dehydrogenase kinase, isozyme 4							81.0	77.0	78.0					7																	95217071		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95217071C>T	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.838G>A	7.37:g.95217071C>T	ENSP00000005178:p.Val280Ile						p.V280I	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		8	1035	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		280			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.838G>A	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885410	0.51908	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.54675	0.56	5.47	5.47	0.80525	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.055210	0.64402	D	0.000001	T	0.40322	0.1112	N	0.17082	0.46	0.80722	D	1	B	0.22146	0.065	B	0.30495	0.116	T	0.24799	-1.0150	10	0.07813	T	0.8	.	19.7045	0.96068	0.0:1.0:0.0:0.0	.	280	Q16654	PDK4_HUMAN	I	280;244	ENSP00000005178:V280I	ENSP00000005178:V280I	V	-	1	0	PDK4	95055007	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	4.710000	0.61873	2.727000	0.93392	0.591000	0.81541	GTT		0.388	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		3	34	0	0	0	1	0	3	34				
LRRC7	57554	broad.mit.edu	37	1	70504094	70504094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr1:70504094C>T	ENST00000035383.5	+	19	2503	c.2473C>T	c.(2473-2475)Cag>Tag	p.Q825*	LRRC7_ENST00000310961.5_Nonsense_Mutation_p.Q830*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.Q109*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	825						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGAACTCGAGCAGTCTACACA	0.493																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2488-2490)Cag>Tag		leucine rich repeat containing 7							85.0	85.0	85.0					1																	70504094		2203	4300	6503	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504094C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2473C>T	1.37:g.70504094C>T	ENSP00000035383:p.Gln825*					LRRC7_ENST00000415775.2_Nonsense_Mutation_p.Q109*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.Q825*	p.Q830*			Q96NW7	LRRC7_HUMAN			22	2906	+			825					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.2488C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	48	14.110804	0.99780	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	.	.	.	5.53	5.53	0.82687	.	0.130788	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	.	.	.	X	830;825;109;648	.	ENSP00000035383:Q825X	Q	+	1	0	LRRC7	70276682	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.604000	0.67626	2.614000	0.88457	0.467000	0.42956	CAG		0.493	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		30	45	0	0	0	1	0	30	45				
SNX17	9784	broad.mit.edu	37	2	27599352	27599352	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:27599352C>T	ENST00000233575.2	+	14	1486	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	SNX17_ENST00000543024.1_Missense_Mutation_p.P208S|SNX17_ENST00000542478.1_Missense_Mutation_p.P208S|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.P397S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	422	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGAGTCACCTGATGCCAC	0.547																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(1264-1266)Cct>Tct		sorting nexin 17							162.0	151.0	155.0					2																	27599352		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599352C>T	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1264C>T	2.37:g.27599352C>T	ENSP00000233575:p.Pro422Ser					SNX17_ENST00000543024.1_Missense_Mutation_p.P208S|SNX17_ENST00000537606.1_Missense_Mutation_p.P397S|SNX17_ENST00000542478.1_Missense_Mutation_p.P208S	p.P422S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			14	1486	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		422					B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.1264C>T	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442166	0.63067	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.30448	1.96;1.53;1.55;1.53	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.40040	0.1101	N	0.25144	0.715	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.03	D;D;D;B	0.79108	0.992;0.992;0.992;0.019	T	0.05419	-1.0886	10	0.13108	T	0.6	-9.1624	17.8169	0.88637	0.0:1.0:0.0:0.0	.	397;410;402;422	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	S	422;208;397;208	ENSP00000233575:P422S;ENSP00000441779:P208S;ENSP00000439208:P397S;ENSP00000442567:P208S	ENSP00000233575:P422S	P	+	1	0	SNX17	27452856	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.338000	0.65947	2.797000	0.96272	0.561000	0.74099	CCT		0.547	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		32	99	0	0	0	1	0	32	99				
CLEC4A	50856	broad.mit.edu	37	12	8290795	8290795	+	Missense_Mutation	SNP	G	G	A	rs375140919		TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr12:8290795G>A	ENST00000229332.5	+	6	873	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	209	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CTAAATTTTCGTAAATCACCC	0.433													g|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001					ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(625-627)cGt>cAt		C-type lectin domain family 4, member A		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	172.0	149.0	156.0		626,509,410,527	-6.0	0.0	12		156	0,8600		0,0,4300	no	missense,missense,missense,missense	CLEC4A	NM_016184.3,NM_194447.2,NM_194448.2,NM_194450.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	209/238,170/199,137/166,176/205	8290795	1,13005	2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8290795G>A	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.626G>A	12.37:g.8290795G>A	ENSP00000229332:p.Arg209His					CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H	p.R209H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	6	873	+			209			C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.626G>A	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738849	0.15642	2.27E-4	0.0	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	3.0	-6.0	0.02206	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	2.476500	0.01943	N	0.042020	T	0.05547	0.0146	N	0.11106	0.095	0.09310	N	1	B;B;P;B	0.35411	0.103;0.103;0.5;0.126	B;B;B;B	0.29716	0.021;0.06;0.106;0.036	T	0.24728	-1.0152	10	0.09084	T	0.74	.	0.8766	0.01225	0.4398:0.1383:0.2083:0.2136	.	170;137;176;209	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	H	209;137;176;170	ENSP00000229332:R209H;ENSP00000344646:R137H;ENSP00000247243:R176H;ENSP00000353690:R170H	ENSP00000229332:R209H	R	+	2	0	CLEC4A	8182062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.884000	0.04166	-1.684000	0.01443	-0.198000	0.12761	CGT		0.433	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		9	70	0	0	0	1	0	9	70				
CHST3	9469	broad.mit.edu	37	10	73767311	73767311	+	Silent	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr10:73767311C>T	ENST00000373115.4	+	3	959	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	174					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						CAGTGTCCTTCGAGCCGGGGG	0.647																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(520-522)ttC>ttT		carbohydrate (chondroitin 6) sulfotransferase 3							21.0	22.0	21.0					10																	73767311		2203	4297	6500	SO:0001819	synonymous_variant	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767311C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.522C>T	10.37:g.73767311C>T							p.F174F	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	959	+			174					O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	c.522C>T	CCDS7312.1																																																																																				0.647	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		6	17	0	0	0	1	0	6	17				
RAG2	5897	broad.mit.edu	37	11	36615227	36615227	+	Silent	SNP	A	A	G			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:36615227A>G	ENST00000311485.3	-	2	653	c.492T>C	c.(490-492)tcT>tcC	p.S164S	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000534635.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	164					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTCTGTGGGTAGAAGGCATGT	0.453									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(490-492)tcT>tcC		recombination activating gene 2							123.0	118.0	119.0					11																	36615227		2202	4298	6500	SO:0001819	synonymous_variant	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36615227A>G	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.492T>C	11.37:g.36615227A>G							p.S164S	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	653	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	164					A8K9E9|Q8TBL4	Silent	SNP	ENST00000311485.3	37	c.492T>C	CCDS7903.1																																																																																				0.453	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		40	63	0	0	0	1	0	40	63				
CRTC1	23373	broad.mit.edu	37	19	18856727	18856727	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:18856727C>T	ENST00000321949.8	+	3	364	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CRTC1_ENST00000601916.1_Missense_Mutation_p.S38F|CRTC1_ENST00000338797.6_Missense_Mutation_p.S129F|CRTC1_ENST00000594658.1_Missense_Mutation_p.S72F	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CGGCTCGGCTCCCCACACCGC	0.692																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(385-387)tCc>tTc		CREB regulated transcription coactivator 1							31.0	37.0	35.0					19																	18856727		2203	4299	6502	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18856727C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.338C>T	19.37:g.18856727C>T	ENSP00000323332:p.Ser113Phe					CRTC1_ENST00000321949.8_Missense_Mutation_p.S113F|CRTC1_ENST00000601916.1_Missense_Mutation_p.S38F|CRTC1_ENST00000594658.1_Missense_Mutation_p.S72F	p.S129F	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			4	411	+			113						Missense_Mutation	SNP	ENST00000321949.8	37	c.386C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003304	0.93287	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.15834	2.39;2.44	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	M	0.77103	2.36	0.80722	D	1	P;D	0.89917	0.531;1.0	B;D	0.87578	0.2;0.998	T	0.48364	-0.9042	10	0.87932	D	0	-31.9144	16.8448	0.85977	0.0:1.0:0.0:0.0	.	129;113	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	F	113;129;113	ENSP00000345001:S129F;ENSP00000323332:S113F	ENSP00000262813:S113F	S	+	2	0	CRTC1	18717727	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.378000	0.79679	2.332000	0.79248	0.555000	0.69702	TCC		0.692	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		35	62	0	0	0	1	0	35	62				
OR5B2	390190	broad.mit.edu	37	11	58190360	58190360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:58190360G>T	ENST00000302581.2	-	1	426	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C125C(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGGGGTTTGCACACTGCTG	0.507																																						ENST00000302581.2																			1	Substitution - coding silent(1)	p.C125C(1)	lung(1)	NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(373-375)tgC>tgA		olfactory receptor, family 5, subfamily B, member 2							108.0	89.0	95.0					11																	58190360		2201	4295	6496	SO:0001587	stop_gained	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190360G>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.375C>A	11.37:g.58190360G>T	ENSP00000303076:p.Cys125*						p.C125*	NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN			1	426	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	125					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Nonsense_Mutation	SNP	ENST00000302581.2	37	c.375C>A	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842652	0.16963	.	.	ENSG00000172365	ENST00000302581	.	.	.	3.84	-4.65	0.03339	.	0.000000	0.38605	U	0.001635	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6963	11.1627	0.48524	0.4733:0.0:0.5267:0.0	.	.	.	.	X	125	.	ENSP00000303076:C125X	C	-	3	2	OR5B2	57946936	0.000000	0.05858	0.121000	0.21740	0.101000	0.19017	-0.911000	0.04050	-1.150000	0.02840	-0.237000	0.12165	TGC		0.507	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		28	49	1	0	1.42536e-11	1	1.49845e-11	28	49				
MROH2B	133558	broad.mit.edu	37	5	41048479	41048479	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr5:41048479T>C	ENST00000399564.4	-	16	2081	c.1631A>G	c.(1630-1632)aAa>aGa	p.K544R	MROH2B_ENST00000506092.2_Missense_Mutation_p.K99R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	544																	GTCTACCAATTTTGGGTGAAT	0.478																																						ENST00000399564.4																			0											c.(1630-1632)aAa>aGa		maestro heat-like repeat family member 2B							144.0	134.0	137.0					5																	41048479		1877	4112	5989	SO:0001583	missense	133558							g.chr5:41048479T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1631A>G	5.37:g.41048479T>C	ENSP00000382476:p.Lys544Arg					MROH2B_ENST00000506092.2_Missense_Mutation_p.K99R	p.K544R	NM_173489.4	NP_775760.3					16	2081	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1631A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	9.391	1.075570	0.20227	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.07800	3.16;3.16	4.87	3.69	0.42338	Armadillo-type fold (1);	0.410761	0.23581	N	0.046641	T	0.06781	0.0173	L	0.36672	1.1	0.28520	N	0.913124	B	0.30281	0.275	B	0.31337	0.128	T	0.28964	-1.0027	10	0.15952	T	0.53	.	8.7434	0.34571	0.0:0.0:0.1918:0.8082	.	544	Q7Z745	HTRB2_HUMAN	R	99;248;544	ENSP00000441504:K99R;ENSP00000382476:K544R	ENSP00000296803:K248R	K	-	2	0	HEATR7B2	41084236	0.562000	0.26586	0.925000	0.36789	0.878000	0.50629	2.021000	0.41020	0.968000	0.38212	-0.313000	0.08912	AAA		0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		5	76	0	0	0	1	0	5	76				
ZFHX4	79776	broad.mit.edu	37	8	77766907	77766907	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr8:77766907G>A	ENST00000521891.2	+	10	8198	c.7750G>A	c.(7750-7752)Gat>Aat	p.D2584N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2539N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2539N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2558N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAACTAGACGATAAAGAAGA	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7750-7752)Gat>Aat		zinc finger homeobox 4							51.0	50.0	50.0					8																	77766907		1906	4115	6021	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766907G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7750G>A	8.37:g.77766907G>A	ENSP00000430497:p.Asp2584Asn	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2539N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2539N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2558N	p.D2584N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8198	+			2539					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7750G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932587	0.34096	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.68;0.67	5.38	5.38	0.77491	.	0.144113	0.31010	U	0.008431	T	0.42017	0.1184	N	0.19112	0.55	0.80722	D	1	D;D;B	0.59357	0.985;0.973;0.297	P;P;B	0.45681	0.49;0.464;0.063	T	0.46119	-0.9214	10	0.72032	D	0.01	.	19.3233	0.94252	0.0:0.0:1.0:0.0	.	2539;2539;2584	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	2584;2568;2539;2539;2558	ENSP00000430497:D2584N;ENSP00000399605:D2539N;ENSP00000050961:D2539N;ENSP00000430848:D2558N	ENSP00000050961:D2539N	D	+	1	0	ZFHX4	77929462	1.000000	0.71417	0.555000	0.28281	0.015000	0.08874	9.643000	0.98464	2.791000	0.96007	0.650000	0.86243	GAT		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	48	0	0	0	1	0	4	48				
TTN	7273	broad.mit.edu	37	2	179584367	179584367	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:179584367G>T	ENST00000591111.1	-	80	23125	c.22901C>A	c.(22900-22902)gCc>gAc	p.A7634D	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6707D|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A7951D|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13184	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCATTTCGGCACAGGGGAT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23851-23853)gCc>gAc		titin							168.0	161.0	163.0					2																	179584367		1871	4109	5980	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584367G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22901C>A	2.37:g.179584367G>T	ENSP00000465570:p.Ala7634Asp					TTN_ENST00000342992.6_Missense_Mutation_p.A6707D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7634D	p.A7951D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		82	24076	-			7634			Ig-like 62.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23852C>A		.	.	.	.	.	.	.	.	.	.	G	11.03	1.519893	0.27211	.	.	ENSG00000155657	ENST00000342992	T	0.71103	-0.54	6.08	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81875	0.4915	M	0.92784	3.345	0.80722	D	1	P	0.35363	0.497	P	0.44623	0.455	D	0.83674	0.0168	9	0.87932	D	0	.	12.7567	0.57339	0.1317:0.0:0.8683:0.0	.	7634	Q8WZ42	TITIN_HUMAN	D	6707	ENSP00000343764:A6707D	ENSP00000343764:A6707D	A	-	2	0	TTN	179292612	1.000000	0.71417	0.956000	0.39512	0.947000	0.59692	4.699000	0.61796	0.917000	0.36895	-0.140000	0.14226	GCC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	117	1	0	0.000602214	1	0.000602214	5	117				
TGFBI	7045	broad.mit.edu	37	5	135390426	135390426	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr5:135390426C>T	ENST00000442011.2	+	10	1447	c.1286C>T	c.(1285-1287)gCc>gTc	p.A429V	TGFBI_ENST00000305126.8_Missense_Mutation_p.A429V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	429	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAATTGATGCCCATACAAGG	0.453																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1285-1287)gCc>gTc		transforming growth factor, beta-induced, 68kDa							238.0	231.0	233.0					5																	135390426		1876	4115	5991	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390426C>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1286C>T	5.37:g.135390426C>T	ENSP00000416330:p.Ala429Val					TGFBI_ENST00000305126.8_Missense_Mutation_p.A429V	p.A429V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1447	+			429			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1286C>T	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046816	0.36085	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	D;D	0.90955	-2.76;-2.76	5.83	2.86	0.33363	FAS1 domain (5);	0.394451	0.29980	N	0.010705	D	0.88537	0.6463	L	0.58101	1.795	0.09310	N	1	B;B	0.29590	0.25;0.196	B;B	0.36719	0.231;0.165	T	0.78861	-0.2037	10	0.33940	T	0.23	-9.9639	11.0385	0.47816	0.1129:0.4086:0.4784:0.0	.	162;429	B9ZVW9;Q15582	.;BGH3_HUMAN	V	429;162;429	ENSP00000416330:A429V;ENSP00000306306:A429V	ENSP00000306306:A429V	A	+	2	0	TGFBI	135418325	0.007000	0.16637	0.220000	0.23810	0.025000	0.11179	-0.006000	0.12833	0.764000	0.33197	0.655000	0.94253	GCC		0.453	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			5	333	0	0	0	1	0	5	333				
SLC41A2	84102	broad.mit.edu	37	12	105198937	105198937	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr12:105198937C>G	ENST00000258538.3	-	10	1842	c.1715G>C	c.(1714-1716)gGa>gCa	p.G572A	SLC41A2_ENST00000549713.1_5'UTR	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	572					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTATTAGTCTCCAACATCTCC	0.393																																					Esophageal Squamous(195;176 2919 4272 35572)	ENST00000258538.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						c.(1714-1716)gGa>gCa		solute carrier family 41 (magnesium transporter), member 2							199.0	211.0	207.0					12																	105198937		2203	4300	6503	SO:0001583	missense	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105198937C>G	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1715G>C	12.37:g.105198937C>G	ENSP00000258538:p.Gly572Ala					SLC41A2_ENST00000549713.1_5'UTR	p.G572A	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN			10	1842	-			572					Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	c.1715G>C	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913984	0.92178	.	.	ENSG00000136052	ENST00000258538	T	0.60920	0.15	5.66	5.66	0.87406	.	0.054620	0.64402	D	0.000001	T	0.75568	0.3867	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.77621	-0.2519	10	0.72032	D	0.01	-0.9213	19.7589	0.96306	0.0:1.0:0.0:0.0	.	572	Q96JW4	S41A2_HUMAN	A	572	ENSP00000258538:G572A	ENSP00000258538:G572A	G	-	2	0	SLC41A2	103723067	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.656000	0.83736	2.654000	0.90174	0.585000	0.79938	GGA		0.393	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		5	264	0	0	0	1	0	5	264				
RFXANK	8625	broad.mit.edu	37	19	19309477	19309477	+	Silent	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:19309477G>A	ENST00000303088.4	+	8	1050	c.576G>A	c.(574-576)acG>acA	p.T192T	RFXANK_ENST00000353145.1_Silent_p.T169T|RFXANK_ENST00000407360.3_Silent_p.T192T|RFXANK_ENST00000392324.4_Silent_p.T169T|RFXANK_ENST00000456252.3_Silent_p.T170T	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	192					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			ATGGAGGGACGCCACTGCTGT	0.592																																						ENST00000303088.4																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14						c.(574-576)acG>acA		regulatory factor X-associated ankyrin-containing protein							92.0	81.0	85.0					19																	19309477		2203	4300	6503	SO:0001819	synonymous_variant	8625					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:19309477G>A	AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.576G>A	19.37:g.19309477G>A						RFXANK_ENST00000456252.3_Silent_p.T170T|RFXANK_ENST00000392324.4_Silent_p.T169T|RFXANK_ENST00000353145.1_Silent_p.T169T|RFXANK_ENST00000407360.3_Silent_p.T192T	p.T192T	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	Epithelial(12;0.00228)		8	1050	+			192					O95839|Q24JQ1|Q6FGA8	Silent	SNP	ENST00000303088.4	37	c.576G>A	CCDS12395.1																																																																																				0.592	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		34	61	0	0	0	1	0	34	61				
AFF2	2334	broad.mit.edu	37	X	148069054	148069054	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chrX:148069054G>T	ENST00000370460.2	+	20	4260	c.3781G>T	c.(3781-3783)Gat>Tat	p.D1261Y	AFF2_ENST00000342251.3_Missense_Mutation_p.D1228Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D1226Y|AFF2_ENST00000286437.5_Missense_Mutation_p.D902Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1261					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGAACACTGGGATATGGCCGA	0.478																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3781-3783)Gat>Tat		AF4/FMR2 family, member 2							199.0	154.0	169.0					X																	148069054		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148069054G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3781G>T	X.37:g.148069054G>T	ENSP00000359489:p.Asp1261Tyr					AFF2_ENST00000342251.3_Missense_Mutation_p.D1228Y|AFF2_ENST00000286437.5_Missense_Mutation_p.D902Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D1226Y	p.D1261Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			20	4260	+	Acute lymphoblastic leukemia(192;6.56e-05)		1261					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3781G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338626	0.81911	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.74	4.87	0.63330	.	0.119263	0.53938	D	0.000043	T	0.82093	0.4962	M	0.77820	2.39	0.80722	D	1	D;D;D;P;P;D	0.76494	0.997;0.999;0.997;0.956;0.956;0.964	D;D;D;P;P;P	0.85130	0.993;0.997;0.996;0.66;0.66;0.771	D	0.84637	0.0693	10	0.87932	D	0	.	15.8962	0.79336	0.0:0.1319:0.8681:0.0	.	902;1226;1226;1222;1251;1261	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	1261;1226;1228;902	ENSP00000359489:D1261Y;ENSP00000359486:D1226Y;ENSP00000345459:D1228Y;ENSP00000286437:D902Y	ENSP00000286437:D902Y	D	+	1	0	AFF2	147876760	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.827000	0.99397	1.175000	0.42826	-0.229000	0.12294	GAT		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		46	23	1	0	1.19451e-25	1	1.28882e-25	46	23				
OR4S1	256148	broad.mit.edu	37	11	48328501	48328501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:48328501A>T	ENST00000319988.1	+	1	727	c.727A>T	c.(727-729)Atc>Ttc	p.I243F		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTCACACGTAATCACTGTCCT	0.453																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(727-729)Atc>Ttc		olfactory receptor, family 4, subfamily S, member 1							251.0	227.0	235.0					11																	48328501		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328501A>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.727A>T	11.37:g.48328501A>T	ENSP00000321447:p.Ile243Phe						p.I243F	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	727	+			243					Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.727A>T	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168963	0.38315	.	.	ENSG00000176555	ENST00000319988	T	0.37752	1.18	5.02	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.43100	0.1232	L	0.60012	1.86	0.09310	N	1	B	0.29671	0.254	B	0.41412	0.356	T	0.46247	-0.9205	9	0.87932	D	0	.	9.0975	0.36647	0.9111:0.0:0.0889:0.0	.	243	Q8NGB4	OR4S1_HUMAN	F	243	ENSP00000321447:I243F	ENSP00000321447:I243F	I	+	1	0	OR4S1	48285077	0.000000	0.05858	0.010000	0.14722	0.610000	0.37248	-0.106000	0.10890	0.866000	0.35629	0.533000	0.62120	ATC		0.453	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		41	93	0	0	0	1	0	41	93				
RAP2B	5912	broad.mit.edu	37	3	152880765	152880765	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr3:152880765C>A	ENST00000323534.2	+	1	737	c.283C>A	c.(283-285)Ccc>Acc	p.P95T	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	95					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGACATCAAGCCCATGCGGGA	0.612																																						ENST00000323534.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(283-285)Ccc>Acc		RAP2B, member of RAS oncogene family							102.0	90.0	94.0					3																	152880765		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880765C>A		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.283C>A	3.37:g.152880765C>A	ENSP00000319096:p.Pro95Thr						p.P95T	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	737	+			95					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.283C>A	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712635	0.30413	.	.	ENSG00000181467	ENST00000323534	T	0.75704	-0.96	4.53	4.53	0.55603	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	T	0.65657	0.2712	N	0.03930	-0.32	0.80722	D	1	D	0.55605	0.972	P	0.61003	0.882	T	0.63717	-0.6574	10	0.10636	T	0.68	.	16.0121	0.80409	0.0:1.0:0.0:0.0	.	95	P61225	RAP2B_HUMAN	T	95	ENSP00000319096:P95T	ENSP00000319096:P95T	P	+	1	0	RAP2B	154363455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.324000	0.78689	0.563000	0.77884	CCC		0.612	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		4	92	1	0	0.00024832	1	0.000254528	4	92				
TTN	7273	broad.mit.edu	37	2	179623770	179623770	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:179623770G>A	ENST00000591111.1	-	44	10468	c.10244C>T	c.(10243-10245)aCg>aTg	p.T3415M	TTN_ENST00000359218.5_Missense_Mutation_p.T3369M|TTN_ENST00000342992.6_Missense_Mutation_p.T3415M|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T3415M|TTN_ENST00000360870.5_Missense_Mutation_p.T3415M|TTN_ENST00000460472.2_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13731	Ig-like 20.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAACAAACGTGTAAGTTCC	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10243-10245)aCg>aTg		titin							144.0	131.0	135.0					2																	179623770		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179623770G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10244C>T	2.37:g.179623770G>A	ENSP00000465570:p.Thr3415Met					TTN_ENST00000360870.5_Missense_Mutation_p.T3415M|TTN_ENST00000342992.6_Missense_Mutation_p.T3415M|TTN_ENST00000342175.6_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3369M|TTN_ENST00000591111.1_Missense_Mutation_p.T3415M	p.T3415M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10468	-			3128			Ig-like 20.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10244C>T		.	.	.	.	.	.	.	.	.	.	G	15.72	2.915858	0.52546	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000446208	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84279	0.5437	M	0.75264	2.295	0.29602	N	0.847607	P;P;D;D;D	0.89917	0.841;0.841;0.994;0.977;1.0	P;P;P;P;D	0.63703	0.643;0.643;0.714;0.714;0.917	T	0.80714	-0.1259	9	0.87932	D	0	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	3369;3369;3369;3415;3415	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	3415;3369;3369;3369;3369;3415;20	ENSP00000343764:T3415M;ENSP00000434586:T3369M;ENSP00000340554:T3369M;ENSP00000352154:T3369M;ENSP00000354117:T3415M	ENSP00000340554:T3369M	T	-	2	0	TTN	179332015	1.000000	0.71417	0.976000	0.42696	0.963000	0.63663	7.822000	0.86651	2.804000	0.96469	0.655000	0.94253	ACG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	52	0	0	0	1	0	19	52				
LRRC8B	23507	broad.mit.edu	37	1	90048354	90048354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr1:90048354C>T	ENST00000330947.2	+	5	505	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.Q49*|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.Q49*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	49					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CCAGCTGACGCAGAGCAGGGT	0.507																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(145-147)Cag>Tag		leucine rich repeat containing 8 family, member B							113.0	96.0	102.0					1																	90048354		2203	4300	6503	SO:0001587	stop_gained	23507					integral to membrane		g.chr1:90048354C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.145C>T	1.37:g.90048354C>T	ENSP00000332674:p.Gln49*					LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.Q49*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.Q49*	p.Q49*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	505	+		all_lung(203;0.17)	49					D3DT28|Q6UY21|Q8N106|Q92627	Nonsense_Mutation	SNP	ENST00000330947.2	37	c.145C>T	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815833	0.90790	.	.	ENSG00000197147	ENST00000449440;ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	.	.	.	5.29	4.32	0.51571	.	0.159305	0.43919	D	0.000501	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	16.5333	0.84366	0.0:0.8696:0.1303:0.0	.	.	.	.	X	49	.	ENSP00000332674:Q49X	Q	+	1	0	LRRC8B	89820942	1.000000	0.71417	0.957000	0.39632	0.967000	0.64934	6.049000	0.71053	2.619000	0.88677	0.655000	0.94253	CAG		0.507	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		5	87	0	0	0	1	0	5	87				
OR7E62P	26479	broad.mit.edu	37	2	71283122	71283123	+	RNA	INS	-	-	T	rs377557477|rs35074164|rs368732130	byFrequency	TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:71283122_71283123insT	ENST00000434990.1	-	0	61																											GGCACCACCCCCAGGAGTGGTG	0.53													?|-|T|unsure	814	0.16254	0.1286	0.1282	5008	,	,		19280	0.2272		0.0835	False		,,,				2504	0.2474					ENST00000434990.1																			0																																																			0							g.chr2:71283122_71283123insT																													2.37:g.71283122_71283123insT														0	61	-									RNA	INS	ENST00000434990.1	37																																																																																						0.530	AC007040.8-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000332235.4			4	7						4	7	---	---	---	---
USP17L17	100287327	broad.mit.edu	37	4	9245880	9245880	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr4:9245880delC	ENST00000511568.1	+	1	276	c.276delC	c.(274-276)aacfs	p.N92fs		NM_001256857.1	NP_001243786.1	D6RBQ6	U17LH_HUMAN	ubiquitin specific peptidase 17-like family member 17	92	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)										GCTACGTGAACGCTTCCTTGC	0.572																																						ENST00000511568.1																			0											c.(274-276)aafs		ubiquitin specific peptidase 17-like family member 17																																				SO:0001589	frameshift_variant	100287327							g.chr4:9245880delC		CCDS59458.1	4p16.1	2012-10-09			ENSG00000249104	ENSG00000249104			44445	protein-coding gene	gene with protein product							Standard	NM_001256857		Approved		uc031sdl.1	D6RBQ6	OTTHUMG00000160158	ENST00000511568.1:c.276delC	4.37:g.9245880delC	ENSP00000422621:p.Asn92fs						p.N92fs	NM_001256857.1	NP_001243786.1					1	276	+									Frame_Shift_Del	DEL	ENST00000511568.1	37	c.276delC	CCDS59458.1																																																																																				0.572	USP17L17-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359426.1	NM_001256857		3	3						3	3	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110464996	110464996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr8:110464996delG	ENST00000378402.5	+	43	6661	c.6557delG	c.(6556-6558)tggfs	p.W2186fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2186	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATTTCTCATGGGGGGGAAAA	0.388										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(6556-6558)tgfs		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							40.0	37.0	38.0					8																	110464996		1807	4071	5878	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110464996delG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6557delG	8.37:g.110464996delG	ENSP00000367655:p.Trp2186fs	HNSCC(38;0.096)					p.W2186fs	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		43	6661	+			2186			G8 1.		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.6557delG	CCDS47911.1																																																																																				0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		2	4						2	4	---	---	---	---
ZFPM1	161882	broad.mit.edu	37	16	88593283	88593283	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr16:88593283delC	ENST00000319555.3	+	5	786	c.464delC	c.(463-465)gccfs	p.A155fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	155					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CTGCCCCAGGCCCTGACTGAG	0.677																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(463-465)gcfs		zinc finger protein, FOG family member 1							33.0	30.0	31.0					16																	88593283		2164	4282	6446	SO:0001589	frameshift_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88593283delC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.464delC	16.37:g.88593283delC	ENSP00000326630:p.Ala155fs					RP11-21B21.4_ENST00000563243.1_RNA	p.A155fs	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	5	786	+			155						Frame_Shift_Del	DEL	ENST00000319555.3	37	c.464delC	CCDS32502.1																																																																																				0.677	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			2	4						2	4	---	---	---	---
LOC146880	146880	broad.mit.edu	37	17	62750914	62750914	+	RNA	DEL	T	T	-			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr17:62750914delT	ENST00000400873.3	-	0	1841					NR_026899.1																						CTGATTATGCttttttttttg	0.433																																						ENST00000400873.3																			0																																																			0							g.chr17:62750914delT																													17.37:g.62750914delT								NR_026899.1						0	1841	-									RNA	DEL	ENST00000400873.3	37																																																																																						0.433	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---
